| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26470424_26470691delinsC | CA2739274215 | OTOF | c.3925_4023+169delinsG c.1624_1722+169delinsG c.1684_1782+169delinsG c.1855_1953+169delinsG c.3910_4008+169delinsG c.3970_4068+169delinsG c.3865_3963+169delinsG | ClinVar |
| 2 | g.26470592C>A | CA346098567 | OTOF | c.4023+1G>T (n.4023+1G>T) c.1722+1G>T (n.1722+1G>T) c.1782+1G>T (n.1782+1G>T) c.1953+1G>T (n.1953+1G>T) c.4008+1G>T (n.4008+1G>T) c.4068+1G>T (n.4068+1G>T) c.3963+1G>T (n.3963+1G>T) | dbSNP |
| 2 | g.26470592C= | CA1239820932 | OTOF | c.4023+1G= (n.4023+1G=) c.1722+1G= (n.1722+1G=) c.1782+1G= (n.1782+1G=) c.1953+1G= (n.1953+1G=) c.4008+1G= (n.4008+1G=) c.4068+1G= (n.4068+1G=) c.3963+1G= (n.3963+1G=) | |
| 2 | g.26470592C>G | CA346098569 | OTOF | c.4023+1G>C (n.4023+1G>C) c.1722+1G>C (n.1722+1G>C) c.1782+1G>C (n.1782+1G>C) c.1953+1G>C (n.1953+1G>C) c.4008+1G>C (n.4008+1G>C) c.4068+1G>C (n.4068+1G>C) c.3963+1G>C (n.3963+1G>C) | |
| 2 | g.26470592C>T | CA142879 | OTOF | c.4023+1G>A (n.4023+1G>A) c.1722+1G>A (n.1722+1G>A) c.1782+1G>A (n.1782+1G>A) c.1953+1G>A (n.1953+1G>A) c.4008+1G>A (n.4008+1G>A) c.4068+1G>A (n.4068+1G>A) c.3963+1G>A (n.3963+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26470593C>A | CA346098574 | OTOF | c.4023G>T (p.Glu1341Asp) c.1722G>T (p.Glu574Asp) c.1782G>T (p.Glu594Asp) c.1953G>T (p.Glu651Asp) c.4008G>T (p.Glu1336Asp) c.4068G>T (p.Glu1356Asp) c.3963G>T (p.Glu1321Asp) | |
| 2 | g.26470593C>G | CA346098577 | OTOF | c.4023G>C (p.Glu1341Asp) c.1722G>C (p.Glu574Asp) c.1782G>C (p.Glu594Asp) c.1953G>C (p.Glu651Asp) c.4008G>C (p.Glu1336Asp) c.4068G>C (p.Glu1356Asp) c.3963G>C (p.Glu1321Asp) | |
| 2 | g.26470593C>T | CA425201621 | OTOF | c.4023G>A (p.Glu1341=) c.1722G>A (p.Glu574=) c.1782G>A (p.Glu594=) c.1953G>A (p.Glu651=) c.4008G>A (p.Glu1336=) c.4068G>A (p.Glu1356=) c.3963G>A (p.Glu1321=) | |
| 2 | g.26470594T>A | CA346098585 | OTOF | c.4022A>T (p.Glu1341Val) c.1721A>T (p.Glu574Val) c.1781A>T (p.Glu594Val) c.1952A>T (p.Glu651Val) c.4007A>T (p.Glu1336Val) c.4067A>T (p.Glu1356Val) c.3962A>T (p.Glu1321Val) | |
| 2 | g.26470594T>C | CA346098580 | OTOF | c.4022A>G (p.Glu1341Gly) c.1721A>G (p.Glu574Gly) c.1781A>G (p.Glu594Gly) c.1952A>G (p.Glu651Gly) c.4007A>G (p.Glu1336Gly) c.4067A>G (p.Glu1356Gly) c.3962A>G (p.Glu1321Gly) | |
| 2 | g.26470594T>G | CA346098582 | OTOF | c.4022A>C (p.Glu1341Ala) c.1721A>C (p.Glu574Ala) c.1781A>C (p.Glu594Ala) c.1952A>C (p.Glu651Ala) c.4007A>C (p.Glu1336Ala) c.4067A>C (p.Glu1356Ala) c.3962A>C (p.Glu1321Ala) | |
| 2 | g.26470595C>A | CA346098588 | OTOF | c.4021G>T (p.Glu1341Ter) c.1720G>T (p.Glu574Ter) c.1780G>T (p.Glu594Ter) c.1951G>T (p.Glu651Ter) c.4006G>T (p.Glu1336Ter) c.4066G>T (p.Glu1356Ter) c.3961G>T (p.Glu1321Ter) | |
| 2 | g.26470595C= | CA1239820938 | OTOF | c.4021G= (p.Glu1341=) c.1720G= (p.Glu574=) c.1780G= (p.Glu594=) c.1951G= (p.Glu651=) c.4006G= (p.Glu1336=) c.4066G= (p.Glu1356=) c.3961G= (p.Glu1321=) | |
| 2 | g.26470595C>G | CA346098590 | OTOF | c.4021G>C (p.Glu1341Gln) c.1720G>C (p.Glu574Gln) c.1780G>C (p.Glu594Gln) c.1951G>C (p.Glu651Gln) c.4006G>C (p.Glu1336Gln) c.4066G>C (p.Glu1356Gln) c.3961G>C (p.Glu1321Gln) | |
| 2 | g.26470595C>T | CA346098593 | OTOF | c.4021G>A (p.Glu1341Lys) c.1720G>A (p.Glu574Lys) c.1780G>A (p.Glu594Lys) c.1951G>A (p.Glu651Lys) c.4006G>A (p.Glu1336Lys) c.4066G>A (p.Glu1356Lys) c.3961G>A (p.Glu1321Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26470596del | CA2658235388 | OTOF | c.4021del (p.Glu1341SerfsTer25) c.1720del (p.Glu574SerfsTer25) c.1780del (p.Glu594SerfsTer25) c.1951del (p.Glu651SerfsTer25) c.4006del (p.Glu1336SerfsTer25) c.4066del (p.Glu1356SerfsTer25) c.3961del (p.Glu1321SerfsTer25) | gnomAD v4 |
| 2 | g.26470596C>A | CA346098596 | OTOF | c.4020G>T (p.Lys1340Asn) c.1719G>T (p.Lys573Asn) c.1779G>T (p.Lys593Asn) c.1950G>T (p.Lys650Asn) c.4005G>T (p.Lys1335Asn) c.4065G>T (p.Lys1355Asn) c.3960G>T (p.Lys1320Asn) | |
| 2 | g.26470596C>G | CA346098599 | OTOF | c.4020G>C (p.Lys1340Asn) c.1719G>C (p.Lys573Asn) c.1779G>C (p.Lys593Asn) c.1950G>C (p.Lys650Asn) c.4005G>C (p.Lys1335Asn) c.4065G>C (p.Lys1355Asn) c.3960G>C (p.Lys1320Asn) | |
| 2 | g.26470596C>T | CA425201622 | OTOF | c.4020G>A (p.Lys1340=) c.1719G>A (p.Lys573=) c.1779G>A (p.Lys593=) c.1950G>A (p.Lys650=) c.4005G>A (p.Lys1335=) c.4065G>A (p.Lys1355=) c.3960G>A (p.Lys1320=) | |
| 2 | g.26470597T>A | CA346098602 | OTOF | c.4019A>T (p.Lys1340Met) c.1718A>T (p.Lys573Met) c.1778A>T (p.Lys593Met) c.1949A>T (p.Lys650Met) c.4004A>T (p.Lys1335Met) c.4064A>T (p.Lys1355Met) c.3959A>T (p.Lys1320Met) | |
| 2 | g.26470597T>C | CA346098609 | OTOF | c.4019A>G (p.Lys1340Arg) c.1718A>G (p.Lys573Arg) c.1778A>G (p.Lys593Arg) c.1949A>G (p.Lys650Arg) c.4004A>G (p.Lys1335Arg) c.4064A>G (p.Lys1355Arg) c.3959A>G (p.Lys1320Arg) | |
| 2 | g.26470597T>G | CA1563337 | OTOF | c.4019A>C (p.Lys1340Thr) c.1718A>C (p.Lys573Thr) c.1778A>C (p.Lys593Thr) c.1949A>C (p.Lys650Thr) c.4004A>C (p.Lys1335Thr) c.4064A>C (p.Lys1355Thr) c.3959A>C (p.Lys1320Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26470597T= | CA1239820942 | OTOF | c.4019A= (p.Lys1340=) c.1718A= (p.Lys573=) c.1778A= (p.Lys593=) c.1949A= (p.Lys650=) c.4004A= (p.Lys1335=) c.4064A= (p.Lys1355=) c.3959A= (p.Lys1320=) | |
| 2 | g.26470598T>A | CA346098612 | OTOF | c.4018A>T (p.Lys1340Ter) c.1717A>T (p.Lys573Ter) c.1777A>T (p.Lys593Ter) c.1948A>T (p.Lys650Ter) c.4003A>T (p.Lys1335Ter) c.4063A>T (p.Lys1355Ter) c.3958A>T (p.Lys1320Ter) | |
| 2 | g.26470598T>C | CA346098615 | OTOF | c.4018A>G (p.Lys1340Glu) c.1717A>G (p.Lys573Glu) c.1777A>G (p.Lys593Glu) c.1948A>G (p.Lys650Glu) c.4003A>G (p.Lys1335Glu) c.4063A>G (p.Lys1355Glu) c.3958A>G (p.Lys1320Glu) | |
| 2 | g.26470598T>G | CA346098617 | OTOF | c.4018A>C (p.Lys1340Gln) c.1717A>C (p.Lys573Gln) c.1777A>C (p.Lys593Gln) c.1948A>C (p.Lys650Gln) c.4003A>C (p.Lys1335Gln) c.4063A>C (p.Lys1355Gln) c.3958A>C (p.Lys1320Gln) | |
| 2 | g.26470599del | CA2658235392 | OTOF | c.4017del (p.Met1339IlefsTer27) c.1716del (p.Met572IlefsTer27) c.1776del (p.Met592IlefsTer27) c.1947del (p.Met649IlefsTer27) c.4002del (p.Met1334IlefsTer27) c.4062del (p.Met1354IlefsTer27) c.3957del (p.Met1319IlefsTer27) | gnomAD v4 |
| 2 | g.26470599C>A | CA346098620 | OTOF | c.4017G>T (p.Met1339Ile) c.1716G>T (p.Met572Ile) c.1776G>T (p.Met592Ile) c.1947G>T (p.Met649Ile) c.4002G>T (p.Met1334Ile) c.4062G>T (p.Met1354Ile) c.3957G>T (p.Met1319Ile) | |
| 2 | g.26470599C>G | CA346098622 | OTOF | c.4017G>C (p.Met1339Ile) c.1716G>C (p.Met572Ile) c.1776G>C (p.Met592Ile) c.1947G>C (p.Met649Ile) c.4002G>C (p.Met1334Ile) c.4062G>C (p.Met1354Ile) c.3957G>C (p.Met1319Ile) | gnomAD v4 |
| 2 | g.26470599C>T | CA346098624 | OTOF | c.4017G>A (p.Met1339Ile) c.1716G>A (p.Met572Ile) c.1776G>A (p.Met592Ile) c.1947G>A (p.Met649Ile) c.4002G>A (p.Met1334Ile) c.4062G>A (p.Met1354Ile) c.3957G>A (p.Met1319Ile) | |
| 2 | g.26470600A>C | CA346098627 | OTOF | c.4016T>G (p.Met1339Arg) c.1715T>G (p.Met572Arg) c.1775T>G (p.Met592Arg) c.1946T>G (p.Met649Arg) c.4001T>G (p.Met1334Arg) c.4061T>G (p.Met1354Arg) c.3956T>G (p.Met1319Arg) | |
| 2 | g.26470600A>G | CA346098630 | OTOF | c.4016T>C (p.Met1339Thr) c.1715T>C (p.Met572Thr) c.1775T>C (p.Met592Thr) c.1946T>C (p.Met649Thr) c.4001T>C (p.Met1334Thr) c.4061T>C (p.Met1354Thr) c.3956T>C (p.Met1319Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26470600A>T | CA346098632 | OTOF | c.4016T>A (p.Met1339Lys) c.1715T>A (p.Met572Lys) c.1775T>A (p.Met592Lys) c.1946T>A (p.Met649Lys) c.4001T>A (p.Met1334Lys) c.4061T>A (p.Met1354Lys) c.3956T>A (p.Met1319Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26470601T>A | CA346099752 | OTOF | c.4015A>T (p.Met1339Leu) c.1714A>T (p.Met572Leu) c.1774A>T (p.Met592Leu) c.1945A>T (p.Met649Leu) c.4000A>T (p.Met1334Leu) c.4060A>T (p.Met1354Leu) c.3955A>T (p.Met1319Leu) | |
| 2 | g.26470601T>C | CA346099755 | OTOF | c.4015A>G (p.Met1339Val) c.1714A>G (p.Met572Val) c.1774A>G (p.Met592Val) c.1945A>G (p.Met649Val) c.4000A>G (p.Met1334Val) c.4060A>G (p.Met1354Val) c.3955A>G (p.Met1319Val) | |
| 2 | g.26470601T>G | CA346099757 | OTOF | c.4015A>C (p.Met1339Leu) c.1714A>C (p.Met572Leu) c.1774A>C (p.Met592Leu) c.1945A>C (p.Met649Leu) c.4000A>C (p.Met1334Leu) c.4060A>C (p.Met1354Leu) c.3955A>C (p.Met1319Leu) | |
| 2 | g.26470602G>A | CA425201624 | OTOF | c.4014C>T (p.Thr1338=) c.1713C>T (p.Thr571=) c.1773C>T (p.Thr591=) c.1944C>T (p.Thr648=) c.3999C>T (p.Thr1333=) c.4059C>T (p.Thr1353=) c.3954C>T (p.Thr1318=) | |
| 2 | g.26470602G>C | CA425201625 | OTOF | c.4014C>G (p.Thr1338=) c.1713C>G (p.Thr571=) c.1773C>G (p.Thr591=) c.1944C>G (p.Thr648=) c.3999C>G (p.Thr1333=) c.4059C>G (p.Thr1353=) c.3954C>G (p.Thr1318=) | |
| 2 | g.26470602G>T | CA425201626 | OTOF | c.4014C>A (p.Thr1338=) c.1713C>A (p.Thr571=) c.1773C>A (p.Thr591=) c.1944C>A (p.Thr648=) c.3999C>A (p.Thr1333=) c.4059C>A (p.Thr1353=) c.3954C>A (p.Thr1318=) | gnomAD v4 |
| 2 | g.26470603G>A | CA346099778 | OTOF | c.4013C>T (p.Thr1338Ile) c.1712C>T (p.Thr571Ile) c.1772C>T (p.Thr591Ile) c.1943C>T (p.Thr648Ile) c.3998C>T (p.Thr1333Ile) c.4058C>T (p.Thr1353Ile) c.3953C>T (p.Thr1318Ile) | gnomAD v4 |
| 2 | g.26470603G>C | CA346099793 | OTOF | c.4013C>G (p.Thr1338Ser) c.1712C>G (p.Thr571Ser) c.1772C>G (p.Thr591Ser) c.1943C>G (p.Thr648Ser) c.3998C>G (p.Thr1333Ser) c.4058C>G (p.Thr1353Ser) c.3953C>G (p.Thr1318Ser) | |
| 2 | g.26470603G>T | CA346099790 | OTOF | c.4013C>A (p.Thr1338Asn) c.1712C>A (p.Thr571Asn) c.1772C>A (p.Thr591Asn) c.1943C>A (p.Thr648Asn) c.3998C>A (p.Thr1333Asn) c.4058C>A (p.Thr1353Asn) c.3953C>A (p.Thr1318Asn) | gnomAD v4 |
| 2 | g.26470604T>A | CA346099799 | OTOF | c.4012A>T (p.Thr1338Ser) c.1711A>T (p.Thr571Ser) c.1771A>T (p.Thr591Ser) c.1942A>T (p.Thr648Ser) c.3997A>T (p.Thr1333Ser) c.4057A>T (p.Thr1353Ser) c.3952A>T (p.Thr1318Ser) | |
| 2 | g.26470604T>C | CA346099814 | OTOF | c.4012A>G (p.Thr1338Ala) c.1711A>G (p.Thr571Ala) c.1771A>G (p.Thr591Ala) c.1942A>G (p.Thr648Ala) c.3997A>G (p.Thr1333Ala) c.4057A>G (p.Thr1353Ala) c.3952A>G (p.Thr1318Ala) | |
| 2 | g.26470604T>G | CA346099817 | OTOF | c.4012A>C (p.Thr1338Pro) c.1711A>C (p.Thr571Pro) c.1771A>C (p.Thr591Pro) c.1942A>C (p.Thr648Pro) c.3997A>C (p.Thr1333Pro) c.4057A>C (p.Thr1353Pro) c.3952A>C (p.Thr1318Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26470604T= | CA1239820944 | OTOF | c.4012A= (p.Thr1338=) c.1711A= (p.Thr571=) c.1771A= (p.Thr591=) c.1942A= (p.Thr648=) c.3997A= (p.Thr1333=) c.4057A= (p.Thr1353=) c.3952A= (p.Thr1318=) | |
| 2 | g.26470605G>A | CA425201627 | OTOF | c.4011C>T (p.Asp1337=) c.1710C>T (p.Asp570=) c.1770C>T (p.Asp590=) c.1941C>T (p.Asp647=) c.3996C>T (p.Asp1332=) c.4056C>T (p.Asp1352=) c.3951C>T (p.Asp1317=) | |
| 2 | g.26470605G>C | CA346099822 | OTOF | c.4011C>G (p.Asp1337Glu) c.1710C>G (p.Asp570Glu) c.1770C>G (p.Asp590Glu) c.1941C>G (p.Asp647Glu) c.3996C>G (p.Asp1332Glu) c.4056C>G (p.Asp1352Glu) c.3951C>G (p.Asp1317Glu) | |
| 2 | g.26470605G>T | CA346099824 | OTOF | c.4011C>A (p.Asp1337Glu) c.1710C>A (p.Asp570Glu) c.1770C>A (p.Asp590Glu) c.1941C>A (p.Asp647Glu) c.3996C>A (p.Asp1332Glu) c.4056C>A (p.Asp1352Glu) c.3951C>A (p.Asp1317Glu) | |
| 2 | g.26470606T>A | CA346099828 | OTOF | c.4010A>T (p.Asp1337Val) c.1709A>T (p.Asp570Val) c.1769A>T (p.Asp590Val) c.1940A>T (p.Asp647Val) c.3995A>T (p.Asp1332Val) c.4055A>T (p.Asp1352Val) c.3950A>T (p.Asp1317Val) | dbSNP gnomAD v2 gnomAD v4 |