TMEM67 sequence variations (NM_153704) | Disease(s) | Reference(s) | ||
---|---|---|---|---|
c.DNA nomenclature | Protein change | Exon | ||
c.41G > A | p.Trp14* | E1 | JS | [8] |
c.175G > C | p.Ala59Pro | E2 | CK and DPM* | [6] |
c.245C > G | p.Pro82Arg | E2 | JS | |
c.270 T > G | p.Asn90Lys | E2 | JS | [10] |
c.274G > A | p.Gly92Arg | E2 | MKS | [11] |
c.297G > T | p.Lys99Asn | E2 | JS, COACH | |
c.300C > A | p.Cys100* | E2 | JS, COACH | |
c.329A > G | p.Asp110Gly | E3 | JS | |
c.370G > A | p.Glu124Lys | E3 | JS | [10] |
c.383_384delAC | p.His128fs*140 | E3 | MKS | [11] |
c.387 T > A | p.Cys129* | E3 | MKS | [10] |
c.389C > G | p.Pro130Arg | E3 | COACH | [4] |
c.395G > C | p.Gly132Ala | E3 | JS, COACH | |
c.434 T > G | p.Leu145Trp | E4 | COACH | [15] |
c.442G > T | p.Ala184Ser | E4 | JS | [12] |
c.475 T > C | p.Ser159Pro | E4 | JS | [12] |
c.515G > A | p.Arg172Gln | E5 | COACH | [4] |
c.517 T > C | p.Cys173Arg | E5 | JS | [16] |
c.579delA | p.Gly195Aspfs*27 | E6 | MKS | [10] |
c.579_580delAG | p.Gly195Ilefs*13 | E6 | JS | |
c.622A > T | p.Arg208* | E6 | RHYNS, MKS, JS, NPHP, ICHF, COACH | |
c.641A > G | p.Tyr214Cys | E6 | ICHF | [18] |
c.647delA | p.Glu216fs*221 | E6 | MKS | [11] |
c.675G > A | p.Trp225* | E8 | COACH, MKS | |
c.722C > G | p.Ala241Gly | E8 | JS | [12] |
c.725A > G | p.Asn242Ser | E8 | JS, COACH | |
c.730A > G | p.Thr244Ala | E8 | JS | [1] |
c.748G > A | p.Gly250Arg | E8 | JS | [9] |
c.755 T > C | p.Met252Thr | E8 | JS, MKS, NPHP | |
c.769A > G | p.Met257Val | E8 | JS, COACH | |
c.797A > C | p.Asp266Ala | E8 | JS | [8] |
c.869G > T | p.Trp290Leu | E8 | NPHP | [23] |
c.903C > G | p.Asp301Glu | E9 | JS | [10] |
c.934 T > C | p.Ser312Pro | E9 | JS | [16] |
c.950C > G | p.Thr317Arg | E9 | JS | |
c.986A > C | p.Lys329Thr | E10 | NPHP | [7] |
c.1027 T > G | p.Phe343Val | E10 | CK and DPM* | [6] |
c.1045 T > C | p.Leu349Ser | E10 | NPHP | [7] |
c.1046 T > C | p.Leu349Ser | E10 | COACH, MKS | |
c.1063C > T | p.Gln355* | E10 | CK and DPM* | [6] |
c.1073 T > C | p.Pro358Leu | E11 | JS, COACH | |
c.1077_1078del | p.Thr360Argfs*18 | E11 | JS | [10] |
c.1081G > T | p.Glu361* | E11 | JS, COACH | |
c.1115C > A | p.Thr372Lys | E11 | JS, COACH | |
c.1126C > G | p.Gln376Glu | E11 | JS, COACH | |
c.1127A > C | p.Gln376Pro | E11 | MKS | [11] |
c.1285C > T | p.Gln429* | E12 | JS | [10] |
c.1289A > G | p.Asp430Gly | E13 | RHYNS, NPHP | |
c.1319G > A | p.Arg440Gln | E13 | MKS | |
c.1321C > T | p.Arg441Cys | E13 | COACH | [4] |
c.1322G > T | p.Arg441Leu | E13 | MKS | [10] |
c.1336G > C | p.Asp446His | E13 | MKS | [20] |
c.1351C > T | p.Arg451* | E13 | JS, NPHP, COACH | |
c.1387C > T | p.Arg463* | E13 | NPHP | [7] |
c.1392C > T | p.Arg441Cys | E13 | MKS | [11] |
c.1438A > G | p.Tyr513Cys | E15 | COACH | [4] |
c.1453C > T | p.Pro458Ser | E15 | COACH | [4] |
c.1536_1537del | p.Tyr513* | E15 | JS | [12] |
c.1538A > G | p.Tyr513Cys | E15 | JS, COACH | |
c.1538_1539delAT | p.Tyr513* | E15 | MKS | [10] |
c.1634G > A | p.Gly545Glu | E16 | JS | [24] |
c.1645C > T | p.Arg549Cys | E16 | MKS | |
c.1706G > A | p.Gly569Asp | E17 | JS | [10] |
c.1715C > T | p.Ala572Val | E17 | CK and DPM* | [6] |
c.1769 T > C | p.Phe590Ser | E17 | JS | [10] |
c.1675-?_2241 +?del | p.T559_Q747del | E17_E21 | MKS | [20] |
c.1843 T > C | p.Cys615Arg | E18 | JS, COACH, NPHP, MKS | |
c.1847C > T | p.Ala616Val | E18 | JS | [10] |
c.1975 T > C | p.Ser659Pro | E20 | JS, COACH | [4] |
c.2002 T > C | p.Trp668Arg | E20 | MKS | [10] |
c.2018 T > C | p.Val673Ala | E20 | NPHP | [7] |
c.2086C > T | p.Leu696Phe | E20 | JS | [1] |
c.2290C > T | p.Arg764* | E22 | JS | [12] |
c.2301delT | p.Asp768Ilefs*5 | E23 | MKS | [10] |
c.2311 T > C | p.Ser771Pro | E23 | JS | [12] |
c.2345A > G | p.His782Arg | E23 | JS | [27] |
c.2357G > A | p.Gly786Glu | E23 | MKS | [10] |
c.2368C > A | p.His790Asn | E23 | JS | [1] |
c.2413C > T | p.Arg805* | E23 | JS, COACH | [4] |
c.2439G > A | p.Ala813Ala | E23 | MKS | [20] |
c.2461G > A | p.Gly821Ser | E24 | NPHP | [23] |
c.2497 T > C | p.Ile833Thr | E24 | COACH | [4] |
c. 2498 T > C | p.Ile833Thr | E24 | JS, COACH, NPHP | |
c.2522A > C | p.Gln841Pro | E24 | JS, COACH | |
c.2528A > G | p.Tyr843Cys | E24 | MKS | [10] |
c.2542G > T | p.Glu848* | E24 | MKS | [10] |
c.2557A > T | p.Lys853* | E25 | MKS | [20] |
c.2561dupA | p.Asn854Lysfs*5 | E25 | MKS | [10] |
c.2689_2690insTA | p.Leu897Ilefs*64 | E26 | MKS | [10] |
c.2758delT | p.Tyr920Thrfs*40 | E26 | JS, COACH | |
c.2801G > A | p.Gly934Glu | E27 | JS | [1] |
c.2802delA | p.Gly934Glyfs*26 | E27 | JS, COACH | |
c.2825 T > G | p.Phe942Cys | E27 | COACH | [4] |
c.2879C > T | p.Ala960Val | E27 | JS | [9] |
c.2891C > T | p.Thr964Ile | E27 | NPHP | [7] |
c.3145C > T | p.Arg1049* | E28 | COACH | [4] |
c.3347C > T | p.Thr1116Met | E28 | COACH | [4] |