Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71643968_71643990delCA2586969510DYSFc.1945_1967del
c.1162_1184del
c.1270_1292del
c.4414_4436del
c.4531_4553del
c.4417_4439del
c.4480_4502del
c.4528_4550del
c.4510_4532del
c.4438_4460del
c.4465_4487del
c.4468_4490del
c.4507_4529del
c.4477_4499del
n.713_735del
n.1299_1321del
c.4372_4394del
c.4435_4457del
c.4375_4397del
c.4573_4595del
c.4570_4592del
n.4731_4753del
2g.71643988G>ACA275268DYSFc.1965G>A (p.Trp655Ter)
c.1182G>A (p.Trp394Ter)
c.1290G>A (p.Trp430Ter)
c.4434G>A (p.Trp1478Ter)
c.4551G>A (p.Trp1517Ter)
c.4437G>A (p.Trp1479Ter)
c.4500G>A (p.Trp1500Ter)
c.4548G>A (p.Trp1516Ter)
c.4530G>A (p.Trp1510Ter)
c.4458G>A (p.Trp1486Ter)
c.4485G>A (p.Trp1495Ter)
c.4488G>A (p.Trp1496Ter)
c.4527G>A (p.Trp1509Ter)
c.4497G>A (p.Trp1499Ter)
n.733G>A
n.1319G>A
c.4392G>A (p.Trp1464Ter)
c.4455G>A (p.Trp1485Ter)
c.4395G>A (p.Trp1465Ter)
c.4593G>A (p.Trp1531Ter)
c.4590G>A (p.Trp1530Ter)
n.4751G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71643988G>CCA347217854DYSFc.1965G>C (p.Trp655Cys)
c.1182G>C (p.Trp394Cys)
c.1290G>C (p.Trp430Cys)
c.4434G>C (p.Trp1478Cys)
c.4551G>C (p.Trp1517Cys)
c.4437G>C (p.Trp1479Cys)
c.4500G>C (p.Trp1500Cys)
c.4548G>C (p.Trp1516Cys)
c.4530G>C (p.Trp1510Cys)
c.4458G>C (p.Trp1486Cys)
c.4485G>C (p.Trp1495Cys)
c.4488G>C (p.Trp1496Cys)
c.4527G>C (p.Trp1509Cys)
c.4497G>C (p.Trp1499Cys)
n.733G>C
n.1319G>C
c.4392G>C (p.Trp1464Cys)
c.4455G>C (p.Trp1485Cys)
c.4395G>C (p.Trp1465Cys)
c.4593G>C (p.Trp1531Cys)
c.4590G>C (p.Trp1530Cys)
n.4751G>C
2g.71643988G=CA1260140072DYSFc.1965G= (p.Trp655=)
c.1182G= (p.Trp394=)
c.1290G= (p.Trp430=)
c.4434G= (p.Trp1478=)
c.4551G= (p.Trp1517=)
c.4437G= (p.Trp1479=)
c.4500G= (p.Trp1500=)
c.4548G= (p.Trp1516=)
c.4530G= (p.Trp1510=)
c.4458G= (p.Trp1486=)
c.4485G= (p.Trp1495=)
c.4488G= (p.Trp1496=)
c.4527G= (p.Trp1509=)
c.4497G= (p.Trp1499=)
n.733G=
n.1319G=
c.4392G= (p.Trp1464=)
c.4455G= (p.Trp1485=)
c.4395G= (p.Trp1465=)
c.4593G= (p.Trp1531=)
c.4590G= (p.Trp1530=)
n.4751G=
2g.71643988G>TCA347217855DYSFc.1965G>T (p.Trp655Cys)
c.1182G>T (p.Trp394Cys)
c.1290G>T (p.Trp430Cys)
c.4434G>T (p.Trp1478Cys)
c.4551G>T (p.Trp1517Cys)
c.4437G>T (p.Trp1479Cys)
c.4500G>T (p.Trp1500Cys)
c.4548G>T (p.Trp1516Cys)
c.4530G>T (p.Trp1510Cys)
c.4458G>T (p.Trp1486Cys)
c.4485G>T (p.Trp1495Cys)
c.4488G>T (p.Trp1496Cys)
c.4527G>T (p.Trp1509Cys)
c.4497G>T (p.Trp1499Cys)
n.733G>T
n.1319G>T
c.4392G>T (p.Trp1464Cys)
c.4455G>T (p.Trp1485Cys)
c.4395G>T (p.Trp1465Cys)
c.4593G>T (p.Trp1531Cys)
c.4590G>T (p.Trp1530Cys)
n.4751G>T
2g.71643989A=CA1260140073DYSFc.1966A= (p.Ser656=)
c.1183A= (p.Ser395=)
c.1291A= (p.Ser431=)
c.4435A= (p.Ser1479=)
c.4552A= (p.Ser1518=)
c.4438A= (p.Ser1480=)
c.4501A= (p.Ser1501=)
c.4549A= (p.Ser1517=)
c.4531A= (p.Ser1511=)
c.4459A= (p.Ser1487=)
c.4486A= (p.Ser1496=)
c.4489A= (p.Ser1497=)
c.4528A= (p.Ser1510=)
c.4498A= (p.Ser1500=)
n.734A=
n.1320A=
c.4393A= (p.Ser1465=)
c.4456A= (p.Ser1486=)
c.4396A= (p.Ser1466=)
c.4594A= (p.Ser1532=)
c.4591A= (p.Ser1531=)
n.4752A=
2g.71643989A>CCA347217856DYSFc.1966A>C (p.Ser656Arg)
c.1183A>C (p.Ser395Arg)
c.1291A>C (p.Ser431Arg)
c.4435A>C (p.Ser1479Arg)
c.4552A>C (p.Ser1518Arg)
c.4438A>C (p.Ser1480Arg)
c.4501A>C (p.Ser1501Arg)
c.4549A>C (p.Ser1517Arg)
c.4531A>C (p.Ser1511Arg)
c.4459A>C (p.Ser1487Arg)
c.4486A>C (p.Ser1496Arg)
c.4489A>C (p.Ser1497Arg)
c.4528A>C (p.Ser1510Arg)
c.4498A>C (p.Ser1500Arg)
n.734A>C
n.1320A>C
c.4393A>C (p.Ser1465Arg)
c.4456A>C (p.Ser1486Arg)
c.4396A>C (p.Ser1466Arg)
c.4594A>C (p.Ser1532Arg)
c.4591A>C (p.Ser1531Arg)
n.4752A>C
2g.71643989A>GCA347217857DYSFc.1966A>G (p.Ser656Gly)
c.1183A>G (p.Ser395Gly)
c.1291A>G (p.Ser431Gly)
c.4435A>G (p.Ser1479Gly)
c.4552A>G (p.Ser1518Gly)
c.4438A>G (p.Ser1480Gly)
c.4501A>G (p.Ser1501Gly)
c.4549A>G (p.Ser1517Gly)
c.4531A>G (p.Ser1511Gly)
c.4459A>G (p.Ser1487Gly)
c.4486A>G (p.Ser1496Gly)
c.4489A>G (p.Ser1497Gly)
c.4528A>G (p.Ser1510Gly)
c.4498A>G (p.Ser1500Gly)
n.734A>G
n.1320A>G
c.4393A>G (p.Ser1465Gly)
c.4456A>G (p.Ser1486Gly)
c.4396A>G (p.Ser1466Gly)
c.4594A>G (p.Ser1532Gly)
c.4591A>G (p.Ser1531Gly)
n.4752A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71643989A>TCA347217858DYSFc.1966A>T (p.Ser656Cys)
c.1183A>T (p.Ser395Cys)
c.1291A>T (p.Ser431Cys)
c.4435A>T (p.Ser1479Cys)
c.4552A>T (p.Ser1518Cys)
c.4438A>T (p.Ser1480Cys)
c.4501A>T (p.Ser1501Cys)
c.4549A>T (p.Ser1517Cys)
c.4531A>T (p.Ser1511Cys)
c.4459A>T (p.Ser1487Cys)
c.4486A>T (p.Ser1496Cys)
c.4489A>T (p.Ser1497Cys)
c.4528A>T (p.Ser1510Cys)
c.4498A>T (p.Ser1500Cys)
n.734A>T
n.1320A>T
c.4393A>T (p.Ser1465Cys)
c.4456A>T (p.Ser1486Cys)
c.4396A>T (p.Ser1466Cys)
c.4594A>T (p.Ser1532Cys)
c.4591A>T (p.Ser1531Cys)
n.4752A>T
2g.71643990G>ACA347217861DYSFc.1967G>A (p.Ser656Asn)
c.1184G>A (p.Ser395Asn)
c.1292G>A (p.Ser431Asn)
c.4436G>A (p.Ser1479Asn)
c.4553G>A (p.Ser1518Asn)
c.4439G>A (p.Ser1480Asn)
c.4502G>A (p.Ser1501Asn)
c.4550G>A (p.Ser1517Asn)
c.4532G>A (p.Ser1511Asn)
c.4460G>A (p.Ser1487Asn)
c.4487G>A (p.Ser1496Asn)
c.4490G>A (p.Ser1497Asn)
c.4529G>A (p.Ser1510Asn)
c.4499G>A (p.Ser1500Asn)
n.735G>A
n.1321G>A
c.4394G>A (p.Ser1465Asn)
c.4457G>A (p.Ser1486Asn)
c.4397G>A (p.Ser1466Asn)
c.4595G>A (p.Ser1532Asn)
c.4592G>A (p.Ser1531Asn)
n.4753G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71643990G>CCA347217860DYSFc.1967G>C (p.Ser656Thr)
c.1184G>C (p.Ser395Thr)
c.1292G>C (p.Ser431Thr)
c.4436G>C (p.Ser1479Thr)
c.4553G>C (p.Ser1518Thr)
c.4439G>C (p.Ser1480Thr)
c.4502G>C (p.Ser1501Thr)
c.4550G>C (p.Ser1517Thr)
c.4532G>C (p.Ser1511Thr)
c.4460G>C (p.Ser1487Thr)
c.4487G>C (p.Ser1496Thr)
c.4490G>C (p.Ser1497Thr)
c.4529G>C (p.Ser1510Thr)
c.4499G>C (p.Ser1500Thr)
n.735G>C
n.1321G>C
c.4394G>C (p.Ser1465Thr)
c.4457G>C (p.Ser1486Thr)
c.4397G>C (p.Ser1466Thr)
c.4595G>C (p.Ser1532Thr)
c.4592G>C (p.Ser1531Thr)
n.4753G>C
2g.71643990G=CA1260140074DYSFc.1967G= (p.Ser656=)
c.1184G= (p.Ser395=)
c.1292G= (p.Ser431=)
c.4436G= (p.Ser1479=)
c.4553G= (p.Ser1518=)
c.4439G= (p.Ser1480=)
c.4502G= (p.Ser1501=)
c.4550G= (p.Ser1517=)
c.4532G= (p.Ser1511=)
c.4460G= (p.Ser1487=)
c.4487G= (p.Ser1496=)
c.4490G= (p.Ser1497=)
c.4529G= (p.Ser1510=)
c.4499G= (p.Ser1500=)
n.735G=
n.1321G=
c.4394G= (p.Ser1465=)
c.4457G= (p.Ser1486=)
c.4397G= (p.Ser1466=)
c.4595G= (p.Ser1532=)
c.4592G= (p.Ser1531=)
n.4753G=
2g.71643990G>TCA347217859DYSFc.1967G>T (p.Ser656Ile)
c.1184G>T (p.Ser395Ile)
c.1292G>T (p.Ser431Ile)
c.4436G>T (p.Ser1479Ile)
c.4553G>T (p.Ser1518Ile)
c.4439G>T (p.Ser1480Ile)
c.4502G>T (p.Ser1501Ile)
c.4550G>T (p.Ser1517Ile)
c.4532G>T (p.Ser1511Ile)
c.4460G>T (p.Ser1487Ile)
c.4487G>T (p.Ser1496Ile)
c.4490G>T (p.Ser1497Ile)
c.4529G>T (p.Ser1510Ile)
c.4499G>T (p.Ser1500Ile)
n.735G>T
n.1321G>T
c.4394G>T (p.Ser1465Ile)
c.4457G>T (p.Ser1486Ile)
c.4397G>T (p.Ser1466Ile)
c.4595G>T (p.Ser1532Ile)
c.4592G>T (p.Ser1531Ile)
n.4753G>T
2g.71643991delCA2573135996DYSFc.1968del (p.Ser656ArgfsTer7)
c.1185del (p.Ser395ArgfsTer7)
c.1293del (p.Ser431ArgfsTer7)
c.4437del (p.Ser1479ArgfsTer7)
c.4554del (p.Ser1518ArgfsTer7)
c.4440del (p.Ser1480ArgfsTer7)
c.4503del (p.Ser1501ArgfsTer7)
c.4551del (p.Ser1517ArgfsTer7)
c.4533del (p.Ser1511ArgfsTer7)
c.4461del (p.Ser1487ArgfsTer7)
c.4488del (p.Ser1496ArgfsTer7)
c.4491del (p.Ser1497ArgfsTer7)
c.4530del (p.Ser1510ArgfsTer7)
c.4500del (p.Ser1500ArgfsTer7)
n.736del
n.1322del
c.4395del (p.Ser1465ArgfsTer7)
c.4458del (p.Ser1486ArgfsTer7)
c.4398del (p.Ser1466ArgfsTer7)
c.4596del (p.Ser1532ArgfsTer7)
c.4593del (p.Ser1531ArgfsTer7)
n.4754del
 ClinVar dbSNP
2g.71643991C>ACA347217863DYSFc.1968C>A (p.Ser656Arg)
c.1185C>A (p.Ser395Arg)
c.1293C>A (p.Ser431Arg)
c.4437C>A (p.Ser1479Arg)
c.4554C>A (p.Ser1518Arg)
c.4440C>A (p.Ser1480Arg)
c.4503C>A (p.Ser1501Arg)
c.4551C>A (p.Ser1517Arg)
c.4533C>A (p.Ser1511Arg)
c.4461C>A (p.Ser1487Arg)
c.4488C>A (p.Ser1496Arg)
c.4491C>A (p.Ser1497Arg)
c.4530C>A (p.Ser1510Arg)
c.4500C>A (p.Ser1500Arg)
n.736C>A
n.1322C>A
c.4395C>A (p.Ser1465Arg)
c.4458C>A (p.Ser1486Arg)
c.4398C>A (p.Ser1466Arg)
c.4596C>A (p.Ser1532Arg)
c.4593C>A (p.Ser1531Arg)
n.4754C>A
2g.71643991C=CA1260140075DYSFc.1968C= (p.Ser656=)
c.1185C= (p.Ser395=)
c.1293C= (p.Ser431=)
c.4437C= (p.Ser1479=)
c.4554C= (p.Ser1518=)
c.4440C= (p.Ser1480=)
c.4503C= (p.Ser1501=)
c.4551C= (p.Ser1517=)
c.4533C= (p.Ser1511=)
c.4461C= (p.Ser1487=)
c.4488C= (p.Ser1496=)
c.4491C= (p.Ser1497=)
c.4530C= (p.Ser1510=)
c.4500C= (p.Ser1500=)
n.736C=
n.1322C=
c.4395C= (p.Ser1465=)
c.4458C= (p.Ser1486=)
c.4398C= (p.Ser1466=)
c.4596C= (p.Ser1532=)
c.4593C= (p.Ser1531=)
n.4754C=
2g.71643991C>GCA347217862DYSFc.1968C>G (p.Ser656Arg)
c.1185C>G (p.Ser395Arg)
c.1293C>G (p.Ser431Arg)
c.4437C>G (p.Ser1479Arg)
c.4554C>G (p.Ser1518Arg)
c.4440C>G (p.Ser1480Arg)
c.4503C>G (p.Ser1501Arg)
c.4551C>G (p.Ser1517Arg)
c.4533C>G (p.Ser1511Arg)
c.4461C>G (p.Ser1487Arg)
c.4488C>G (p.Ser1496Arg)
c.4491C>G (p.Ser1497Arg)
c.4530C>G (p.Ser1510Arg)
c.4500C>G (p.Ser1500Arg)
n.736C>G
n.1322C>G
c.4395C>G (p.Ser1465Arg)
c.4458C>G (p.Ser1486Arg)
c.4398C>G (p.Ser1466Arg)
c.4596C>G (p.Ser1532Arg)
c.4593C>G (p.Ser1531Arg)
n.4754C>G
2g.71643991C>TCA426703051DYSFc.1968C>T (p.Ser656=)
c.1185C>T (p.Ser395=)
c.1293C>T (p.Ser431=)
c.4437C>T (p.Ser1479=)
c.4554C>T (p.Ser1518=)
c.4440C>T (p.Ser1480=)
c.4503C>T (p.Ser1501=)
c.4551C>T (p.Ser1517=)
c.4533C>T (p.Ser1511=)
c.4461C>T (p.Ser1487=)
c.4488C>T (p.Ser1496=)
c.4491C>T (p.Ser1497=)
c.4530C>T (p.Ser1510=)
c.4500C>T (p.Ser1500=)
n.736C>T
n.1322C>T
c.4395C>T (p.Ser1465=)
c.4458C>T (p.Ser1486=)
c.4398C>T (p.Ser1466=)
c.4596C>T (p.Ser1532=)
c.4593C>T (p.Ser1531=)
n.4754C>T
 ClinVar dbSNP gnomAD v4
2g.71643992A>CCA347217864DYSFc.1969A>C (p.Lys657Gln)
c.1186A>C (p.Lys396Gln)
c.1294A>C (p.Lys432Gln)
c.4438A>C (p.Lys1480Gln)
c.4555A>C (p.Lys1519Gln)
c.4441A>C (p.Lys1481Gln)
c.4504A>C (p.Lys1502Gln)
c.4552A>C (p.Lys1518Gln)
c.4534A>C (p.Lys1512Gln)
c.4462A>C (p.Lys1488Gln)
c.4489A>C (p.Lys1497Gln)
c.4492A>C (p.Lys1498Gln)
c.4531A>C (p.Lys1511Gln)
c.4501A>C (p.Lys1501Gln)
n.737A>C
n.1323A>C
c.4396A>C (p.Lys1466Gln)
c.4459A>C (p.Lys1487Gln)
c.4399A>C (p.Lys1467Gln)
c.4597A>C (p.Lys1533Gln)
c.4594A>C (p.Lys1532Gln)
n.4755A>C
2g.71643992A>GCA347217865DYSFc.1969A>G (p.Lys657Glu)
c.1186A>G (p.Lys396Glu)
c.1294A>G (p.Lys432Glu)
c.4438A>G (p.Lys1480Glu)
c.4555A>G (p.Lys1519Glu)
c.4441A>G (p.Lys1481Glu)
c.4504A>G (p.Lys1502Glu)
c.4552A>G (p.Lys1518Glu)
c.4534A>G (p.Lys1512Glu)
c.4462A>G (p.Lys1488Glu)
c.4489A>G (p.Lys1497Glu)
c.4492A>G (p.Lys1498Glu)
c.4531A>G (p.Lys1511Glu)
c.4501A>G (p.Lys1501Glu)
n.737A>G
n.1323A>G
c.4396A>G (p.Lys1466Glu)
c.4459A>G (p.Lys1487Glu)
c.4399A>G (p.Lys1467Glu)
c.4597A>G (p.Lys1533Glu)
c.4594A>G (p.Lys1532Glu)
n.4755A>G
2g.71643992A>TCA347217866DYSFc.1969A>T (p.Lys657Ter)
c.1186A>T (p.Lys396Ter)
c.1294A>T (p.Lys432Ter)
c.4438A>T (p.Lys1480Ter)
c.4555A>T (p.Lys1519Ter)
c.4441A>T (p.Lys1481Ter)
c.4504A>T (p.Lys1502Ter)
c.4552A>T (p.Lys1518Ter)
c.4534A>T (p.Lys1512Ter)
c.4462A>T (p.Lys1488Ter)
c.4489A>T (p.Lys1497Ter)
c.4492A>T (p.Lys1498Ter)
c.4531A>T (p.Lys1511Ter)
c.4501A>T (p.Lys1501Ter)
n.737A>T
n.1323A>T
c.4396A>T (p.Lys1466Ter)
c.4459A>T (p.Lys1487Ter)
c.4399A>T (p.Lys1467Ter)
c.4597A>T (p.Lys1533Ter)
c.4594A>T (p.Lys1532Ter)
n.4755A>T
2g.71643994delCA2586969512DYSFc.1971del (p.Lys657AsnfsTer6)
c.1188del (p.Lys396AsnfsTer6)
c.1296del (p.Lys432AsnfsTer6)
c.4440del (p.Lys1480AsnfsTer6)
c.4557del (p.Lys1519AsnfsTer6)
c.4443del (p.Lys1481AsnfsTer6)
c.4506del (p.Lys1502AsnfsTer6)
c.4554del (p.Lys1518AsnfsTer6)
c.4536del (p.Lys1512AsnfsTer6)
c.4464del (p.Lys1488AsnfsTer6)
c.4491del (p.Lys1497AsnfsTer6)
c.4494del (p.Lys1498AsnfsTer6)
c.4533del (p.Lys1511AsnfsTer6)
c.4503del (p.Lys1501AsnfsTer6)
n.739del
n.1325del
c.4398del (p.Lys1466AsnfsTer6)
c.4461del (p.Lys1487AsnfsTer6)
c.4401del (p.Lys1467AsnfsTer6)
c.4599del (p.Lys1533AsnfsTer6)
c.4596del (p.Lys1532AsnfsTer6)
n.4757del
2g.71643993A=CA1260140076DYSFc.1970A= (p.Lys657=)
c.1187A= (p.Lys396=)
c.1295A= (p.Lys432=)
c.4439A= (p.Lys1480=)
c.4556A= (p.Lys1519=)
c.4442A= (p.Lys1481=)
c.4505A= (p.Lys1502=)
c.4553A= (p.Lys1518=)
c.4535A= (p.Lys1512=)
c.4463A= (p.Lys1488=)
c.4490A= (p.Lys1497=)
c.4493A= (p.Lys1498=)
c.4532A= (p.Lys1511=)
c.4502A= (p.Lys1501=)
n.738A=
n.1324A=
c.4397A= (p.Lys1466=)
c.4460A= (p.Lys1487=)
c.4400A= (p.Lys1467=)
c.4598A= (p.Lys1533=)
c.4595A= (p.Lys1532=)
n.4756A=
2g.71643993A>CCA222170DYSFc.1970A>C (p.Lys657Thr)
c.1187A>C (p.Lys396Thr)
c.1295A>C (p.Lys432Thr)
c.4439A>C (p.Lys1480Thr)
c.4556A>C (p.Lys1519Thr)
c.4442A>C (p.Lys1481Thr)
c.4505A>C (p.Lys1502Thr)
c.4553A>C (p.Lys1518Thr)
c.4535A>C (p.Lys1512Thr)
c.4463A>C (p.Lys1488Thr)
c.4490A>C (p.Lys1497Thr)
c.4493A>C (p.Lys1498Thr)
c.4532A>C (p.Lys1511Thr)
c.4502A>C (p.Lys1501Thr)
n.738A>C
n.1324A>C
c.4397A>C (p.Lys1466Thr)
c.4460A>C (p.Lys1487Thr)
c.4400A>C (p.Lys1467Thr)
c.4598A>C (p.Lys1533Thr)
c.4595A>C (p.Lys1532Thr)
n.4756A>C
 ClinVar dbSNP gnomAD v4
2g.71643993A>GCA347217868DYSFc.1970A>G (p.Lys657Arg)
c.1187A>G (p.Lys396Arg)
c.1295A>G (p.Lys432Arg)
c.4439A>G (p.Lys1480Arg)
c.4556A>G (p.Lys1519Arg)
c.4442A>G (p.Lys1481Arg)
c.4505A>G (p.Lys1502Arg)
c.4553A>G (p.Lys1518Arg)
c.4535A>G (p.Lys1512Arg)
c.4463A>G (p.Lys1488Arg)
c.4490A>G (p.Lys1497Arg)
c.4493A>G (p.Lys1498Arg)
c.4532A>G (p.Lys1511Arg)
c.4502A>G (p.Lys1501Arg)
n.738A>G
n.1324A>G
c.4397A>G (p.Lys1466Arg)
c.4460A>G (p.Lys1487Arg)
c.4400A>G (p.Lys1467Arg)
c.4598A>G (p.Lys1533Arg)
c.4595A>G (p.Lys1532Arg)
n.4756A>G
2g.71643993A>TCA347217870DYSFc.1970A>T (p.Lys657Ile)
c.1187A>T (p.Lys396Ile)
c.1295A>T (p.Lys432Ile)
c.4439A>T (p.Lys1480Ile)
c.4556A>T (p.Lys1519Ile)
c.4442A>T (p.Lys1481Ile)
c.4505A>T (p.Lys1502Ile)
c.4553A>T (p.Lys1518Ile)
c.4535A>T (p.Lys1512Ile)
c.4463A>T (p.Lys1488Ile)
c.4490A>T (p.Lys1497Ile)
c.4493A>T (p.Lys1498Ile)
c.4532A>T (p.Lys1511Ile)
c.4502A>T (p.Lys1501Ile)
n.738A>T
n.1324A>T
c.4397A>T (p.Lys1466Ile)
c.4460A>T (p.Lys1487Ile)
c.4400A>T (p.Lys1467Ile)
c.4598A>T (p.Lys1533Ile)
c.4595A>T (p.Lys1532Ile)
n.4756A>T
 ClinVar
2g.71643994A=CA1260140077DYSFc.1971A= (p.Lys657=)
c.1188A= (p.Lys396=)
c.1296A= (p.Lys432=)
c.4440A= (p.Lys1480=)
c.4557A= (p.Lys1519=)
c.4443A= (p.Lys1481=)
c.4506A= (p.Lys1502=)
c.4554A= (p.Lys1518=)
c.4536A= (p.Lys1512=)
c.4464A= (p.Lys1488=)
c.4491A= (p.Lys1497=)
c.4494A= (p.Lys1498=)
c.4533A= (p.Lys1511=)
c.4503A= (p.Lys1501=)
n.739A=
n.1325A=
c.4398A= (p.Lys1466=)
c.4461A= (p.Lys1487=)
c.4401A= (p.Lys1467=)
c.4599A= (p.Lys1533=)
c.4596A= (p.Lys1532=)
n.4757A=
2g.71643994A>CCA347217871DYSFc.1971A>C (p.Lys657Asn)
c.1188A>C (p.Lys396Asn)
c.1296A>C (p.Lys432Asn)
c.4440A>C (p.Lys1480Asn)
c.4557A>C (p.Lys1519Asn)
c.4443A>C (p.Lys1481Asn)
c.4506A>C (p.Lys1502Asn)
c.4554A>C (p.Lys1518Asn)
c.4536A>C (p.Lys1512Asn)
c.4464A>C (p.Lys1488Asn)
c.4491A>C (p.Lys1497Asn)
c.4494A>C (p.Lys1498Asn)
c.4533A>C (p.Lys1511Asn)
c.4503A>C (p.Lys1501Asn)
n.739A>C
n.1325A>C
c.4398A>C (p.Lys1466Asn)
c.4461A>C (p.Lys1487Asn)
c.4401A>C (p.Lys1467Asn)
c.4599A>C (p.Lys1533Asn)
c.4596A>C (p.Lys1532Asn)
n.4757A>C
2g.71643994A>GCA426703052DYSFc.1971A>G (p.Lys657=)
c.1188A>G (p.Lys396=)
c.1296A>G (p.Lys432=)
c.4440A>G (p.Lys1480=)
c.4557A>G (p.Lys1519=)
c.4443A>G (p.Lys1481=)
c.4506A>G (p.Lys1502=)
c.4554A>G (p.Lys1518=)
c.4536A>G (p.Lys1512=)
c.4464A>G (p.Lys1488=)
c.4491A>G (p.Lys1497=)
c.4494A>G (p.Lys1498=)
c.4533A>G (p.Lys1511=)
c.4503A>G (p.Lys1501=)
n.739A>G
n.1325A>G
c.4398A>G (p.Lys1466=)
c.4461A>G (p.Lys1487=)
c.4401A>G (p.Lys1467=)
c.4599A>G (p.Lys1533=)
c.4596A>G (p.Lys1532=)
n.4757A>G
 ClinVar dbSNP gnomAD v4
2g.71643994A>TCA347217873DYSFc.1971A>T (p.Lys657Asn)
c.1188A>T (p.Lys396Asn)
c.1296A>T (p.Lys432Asn)
c.4440A>T (p.Lys1480Asn)
c.4557A>T (p.Lys1519Asn)
c.4443A>T (p.Lys1481Asn)
c.4506A>T (p.Lys1502Asn)
c.4554A>T (p.Lys1518Asn)
c.4536A>T (p.Lys1512Asn)
c.4464A>T (p.Lys1488Asn)
c.4491A>T (p.Lys1497Asn)
c.4494A>T (p.Lys1498Asn)
c.4533A>T (p.Lys1511Asn)
c.4503A>T (p.Lys1501Asn)
n.739A>T
n.1325A>T
c.4398A>T (p.Lys1466Asn)
c.4461A>T (p.Lys1487Asn)
c.4401A>T (p.Lys1467Asn)
c.4599A>T (p.Lys1533Asn)
c.4596A>T (p.Lys1532Asn)
n.4757A>T
2g.71643995T>ACA347217874DYSFc.1972T>A (p.Phe658Ile)
c.1189T>A (p.Phe397Ile)
c.1297T>A (p.Phe433Ile)
c.4441T>A (p.Phe1481Ile)
c.4558T>A (p.Phe1520Ile)
c.4444T>A (p.Phe1482Ile)
c.4507T>A (p.Phe1503Ile)
c.4555T>A (p.Phe1519Ile)
c.4537T>A (p.Phe1513Ile)
c.4465T>A (p.Phe1489Ile)
c.4492T>A (p.Phe1498Ile)
c.4495T>A (p.Phe1499Ile)
c.4534T>A (p.Phe1512Ile)
c.4504T>A (p.Phe1502Ile)
n.740T>A
n.1326T>A
c.4399T>A (p.Phe1467Ile)
c.4462T>A (p.Phe1488Ile)
c.4402T>A (p.Phe1468Ile)
c.4600T>A (p.Phe1534Ile)
c.4597T>A (p.Phe1533Ile)
n.4758T>A
2g.71643995T>CCA347217876DYSFc.1972T>C (p.Phe658Leu)
c.1189T>C (p.Phe397Leu)
c.1297T>C (p.Phe433Leu)
c.4441T>C (p.Phe1481Leu)
c.4558T>C (p.Phe1520Leu)
c.4444T>C (p.Phe1482Leu)
c.4507T>C (p.Phe1503Leu)
c.4555T>C (p.Phe1519Leu)
c.4537T>C (p.Phe1513Leu)
c.4465T>C (p.Phe1489Leu)
c.4492T>C (p.Phe1498Leu)
c.4495T>C (p.Phe1499Leu)
c.4534T>C (p.Phe1512Leu)
c.4504T>C (p.Phe1502Leu)
n.740T>C
n.1326T>C
c.4399T>C (p.Phe1467Leu)
c.4462T>C (p.Phe1488Leu)
c.4402T>C (p.Phe1468Leu)
c.4600T>C (p.Phe1534Leu)
c.4597T>C (p.Phe1533Leu)
n.4758T>C
2g.71643995T>GCA347217878DYSFc.1972T>G (p.Phe658Val)
c.1189T>G (p.Phe397Val)
c.1297T>G (p.Phe433Val)
c.4441T>G (p.Phe1481Val)
c.4558T>G (p.Phe1520Val)
c.4444T>G (p.Phe1482Val)
c.4507T>G (p.Phe1503Val)
c.4555T>G (p.Phe1519Val)
c.4537T>G (p.Phe1513Val)
c.4465T>G (p.Phe1489Val)
c.4492T>G (p.Phe1498Val)
c.4495T>G (p.Phe1499Val)
c.4534T>G (p.Phe1512Val)
c.4504T>G (p.Phe1502Val)
n.740T>G
n.1326T>G
c.4399T>G (p.Phe1467Val)
c.4462T>G (p.Phe1488Val)
c.4402T>G (p.Phe1468Val)
c.4600T>G (p.Phe1534Val)
c.4597T>G (p.Phe1533Val)
n.4758T>G
 COSMIC COSMIC
2g.71643996T>ACA347217881DYSFc.1973T>A (p.Phe658Tyr)
c.1190T>A (p.Phe397Tyr)
c.1298T>A (p.Phe433Tyr)
c.4442T>A (p.Phe1481Tyr)
c.4559T>A (p.Phe1520Tyr)
c.4445T>A (p.Phe1482Tyr)
c.4508T>A (p.Phe1503Tyr)
c.4556T>A (p.Phe1519Tyr)
c.4538T>A (p.Phe1513Tyr)
c.4466T>A (p.Phe1489Tyr)
c.4493T>A (p.Phe1498Tyr)
c.4496T>A (p.Phe1499Tyr)
c.4535T>A (p.Phe1512Tyr)
c.4505T>A (p.Phe1502Tyr)
n.741T>A
n.1327T>A
c.4400T>A (p.Phe1467Tyr)
c.4463T>A (p.Phe1488Tyr)
c.4403T>A (p.Phe1468Tyr)
c.4601T>A (p.Phe1534Tyr)
c.4598T>A (p.Phe1533Tyr)
n.4759T>A
2g.71643996T>CCA347217883DYSFc.1973T>C (p.Phe658Ser)
c.1190T>C (p.Phe397Ser)
c.1298T>C (p.Phe433Ser)
c.4442T>C (p.Phe1481Ser)
c.4559T>C (p.Phe1520Ser)
c.4445T>C (p.Phe1482Ser)
c.4508T>C (p.Phe1503Ser)
c.4556T>C (p.Phe1519Ser)
c.4538T>C (p.Phe1513Ser)
c.4466T>C (p.Phe1489Ser)
c.4493T>C (p.Phe1498Ser)
c.4496T>C (p.Phe1499Ser)
c.4535T>C (p.Phe1512Ser)
c.4505T>C (p.Phe1502Ser)
n.741T>C
n.1327T>C
c.4400T>C (p.Phe1467Ser)
c.4463T>C (p.Phe1488Ser)
c.4403T>C (p.Phe1468Ser)
c.4601T>C (p.Phe1534Ser)
c.4598T>C (p.Phe1533Ser)
n.4759T>C
2g.71643996T>GCA347217880DYSFc.1973T>G (p.Phe658Cys)
c.1190T>G (p.Phe397Cys)
c.1298T>G (p.Phe433Cys)
c.4442T>G (p.Phe1481Cys)
c.4559T>G (p.Phe1520Cys)
c.4445T>G (p.Phe1482Cys)
c.4508T>G (p.Phe1503Cys)
c.4556T>G (p.Phe1519Cys)
c.4538T>G (p.Phe1513Cys)
c.4466T>G (p.Phe1489Cys)
c.4493T>G (p.Phe1498Cys)
c.4496T>G (p.Phe1499Cys)
c.4535T>G (p.Phe1512Cys)
c.4505T>G (p.Phe1502Cys)
n.741T>G
n.1327T>G
c.4400T>G (p.Phe1467Cys)
c.4463T>G (p.Phe1488Cys)
c.4403T>G (p.Phe1468Cys)
c.4601T>G (p.Phe1534Cys)
c.4598T>G (p.Phe1533Cys)
n.4759T>G
2g.71643997C>ACA1707052DYSFc.1974C>A (p.Phe658Leu)
c.1191C>A (p.Phe397Leu)
c.1299C>A (p.Phe433Leu)
c.4443C>A (p.Phe1481Leu)
c.4560C>A (p.Phe1520Leu)
c.4446C>A (p.Phe1482Leu)
c.4509C>A (p.Phe1503Leu)
c.4557C>A (p.Phe1519Leu)
c.4539C>A (p.Phe1513Leu)
c.4467C>A (p.Phe1489Leu)
c.4494C>A (p.Phe1498Leu)
c.4497C>A (p.Phe1499Leu)
c.4536C>A (p.Phe1512Leu)
c.4506C>A (p.Phe1502Leu)
n.742C>A
n.1328C>A
c.4401C>A (p.Phe1467Leu)
c.4464C>A (p.Phe1488Leu)
c.4404C>A (p.Phe1468Leu)
c.4602C>A (p.Phe1534Leu)
c.4599C>A (p.Phe1533Leu)
n.4760C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71643997C=CA1260140078DYSFc.1974C= (p.Phe658=)
c.1191C= (p.Phe397=)
c.1299C= (p.Phe433=)
c.4443C= (p.Phe1481=)
c.4560C= (p.Phe1520=)
c.4446C= (p.Phe1482=)
c.4509C= (p.Phe1503=)
c.4557C= (p.Phe1519=)
c.4539C= (p.Phe1513=)
c.4467C= (p.Phe1489=)
c.4494C= (p.Phe1498=)
c.4497C= (p.Phe1499=)
c.4536C= (p.Phe1512=)
c.4506C= (p.Phe1502=)
n.742C=
n.1328C=
c.4401C= (p.Phe1467=)
c.4464C= (p.Phe1488=)
c.4404C= (p.Phe1468=)
c.4602C= (p.Phe1534=)
c.4599C= (p.Phe1533=)
n.4760C=
2g.71643997C>GCA347217884DYSFc.1974C>G (p.Phe658Leu)
c.1191C>G (p.Phe397Leu)
c.1299C>G (p.Phe433Leu)
c.4443C>G (p.Phe1481Leu)
c.4560C>G (p.Phe1520Leu)
c.4446C>G (p.Phe1482Leu)
c.4509C>G (p.Phe1503Leu)
c.4557C>G (p.Phe1519Leu)
c.4539C>G (p.Phe1513Leu)
c.4467C>G (p.Phe1489Leu)
c.4494C>G (p.Phe1498Leu)
c.4497C>G (p.Phe1499Leu)
c.4536C>G (p.Phe1512Leu)
c.4506C>G (p.Phe1502Leu)
n.742C>G
n.1328C>G
c.4401C>G (p.Phe1467Leu)
c.4464C>G (p.Phe1488Leu)
c.4404C>G (p.Phe1468Leu)
c.4602C>G (p.Phe1534Leu)
c.4599C>G (p.Phe1533Leu)
n.4760C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71643997C>TCA1707053DYSFc.1974C>T (p.Phe658=)
c.1191C>T (p.Phe397=)
c.1299C>T (p.Phe433=)
c.4443C>T (p.Phe1481=)
c.4560C>T (p.Phe1520=)
c.4446C>T (p.Phe1482=)
c.4509C>T (p.Phe1503=)
c.4557C>T (p.Phe1519=)
c.4539C>T (p.Phe1513=)
c.4467C>T (p.Phe1489=)
c.4494C>T (p.Phe1498=)
c.4497C>T (p.Phe1499=)
c.4536C>T (p.Phe1512=)
c.4506C>T (p.Phe1502=)
n.742C>T
n.1328C>T
c.4401C>T (p.Phe1467=)
c.4464C>T (p.Phe1488=)
c.4404C>T (p.Phe1468=)
c.4602C>T (p.Phe1534=)
c.4599C>T (p.Phe1533=)
n.4760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71643998T>ACA347217886DYSFc.1975T>A (p.Phe659Ile)
c.1192T>A (p.Phe398Ile)
c.1300T>A (p.Phe434Ile)
c.4444T>A (p.Phe1482Ile)
c.4561T>A (p.Phe1521Ile)
c.4447T>A (p.Phe1483Ile)
c.4510T>A (p.Phe1504Ile)
c.4558T>A (p.Phe1520Ile)
c.4540T>A (p.Phe1514Ile)
c.4468T>A (p.Phe1490Ile)
c.4495T>A (p.Phe1499Ile)
c.4498T>A (p.Phe1500Ile)
c.4537T>A (p.Phe1513Ile)
c.4507T>A (p.Phe1503Ile)
n.743T>A
n.1329T>A
c.4402T>A (p.Phe1468Ile)
c.4465T>A (p.Phe1489Ile)
c.4405T>A (p.Phe1469Ile)
c.4603T>A (p.Phe1535Ile)
c.4600T>A (p.Phe1534Ile)
n.4761T>A
2g.71643998T>CCA347217888DYSFc.1975T>C (p.Phe659Leu)
c.1192T>C (p.Phe398Leu)
c.1300T>C (p.Phe434Leu)
c.4444T>C (p.Phe1482Leu)
c.4561T>C (p.Phe1521Leu)
c.4447T>C (p.Phe1483Leu)
c.4510T>C (p.Phe1504Leu)
c.4558T>C (p.Phe1520Leu)
c.4540T>C (p.Phe1514Leu)
c.4468T>C (p.Phe1490Leu)
c.4495T>C (p.Phe1499Leu)
c.4498T>C (p.Phe1500Leu)
c.4537T>C (p.Phe1513Leu)
c.4507T>C (p.Phe1503Leu)
n.743T>C
n.1329T>C
c.4402T>C (p.Phe1468Leu)
c.4465T>C (p.Phe1489Leu)
c.4405T>C (p.Phe1469Leu)
c.4603T>C (p.Phe1535Leu)
c.4600T>C (p.Phe1534Leu)
n.4761T>C
2g.71643998T>GCA347217890DYSFc.1975T>G (p.Phe659Val)
c.1192T>G (p.Phe398Val)
c.1300T>G (p.Phe434Val)
c.4444T>G (p.Phe1482Val)
c.4561T>G (p.Phe1521Val)
c.4447T>G (p.Phe1483Val)
c.4510T>G (p.Phe1504Val)
c.4558T>G (p.Phe1520Val)
c.4540T>G (p.Phe1514Val)
c.4468T>G (p.Phe1490Val)
c.4495T>G (p.Phe1499Val)
c.4498T>G (p.Phe1500Val)
c.4537T>G (p.Phe1513Val)
c.4507T>G (p.Phe1503Val)
n.743T>G
n.1329T>G
c.4402T>G (p.Phe1468Val)
c.4465T>G (p.Phe1489Val)
c.4405T>G (p.Phe1469Val)
c.4603T>G (p.Phe1535Val)
c.4600T>G (p.Phe1534Val)
n.4761T>G
2g.71643999T>ACA347217891DYSFc.1976T>A (p.Phe659Tyr)
c.1193T>A (p.Phe398Tyr)
c.1301T>A (p.Phe434Tyr)
c.4445T>A (p.Phe1482Tyr)
c.4562T>A (p.Phe1521Tyr)
c.4448T>A (p.Phe1483Tyr)
c.4511T>A (p.Phe1504Tyr)
c.4559T>A (p.Phe1520Tyr)
c.4541T>A (p.Phe1514Tyr)
c.4469T>A (p.Phe1490Tyr)
c.4496T>A (p.Phe1499Tyr)
c.4499T>A (p.Phe1500Tyr)
c.4538T>A (p.Phe1513Tyr)
c.4508T>A (p.Phe1503Tyr)
n.744T>A
n.1330T>A
c.4403T>A (p.Phe1468Tyr)
c.4466T>A (p.Phe1489Tyr)
c.4406T>A (p.Phe1469Tyr)
c.4604T>A (p.Phe1535Tyr)
c.4601T>A (p.Phe1534Tyr)
n.4762T>A
2g.71643999T>CCA347217894DYSFc.1976T>C (p.Phe659Ser)
c.1193T>C (p.Phe398Ser)
c.1301T>C (p.Phe434Ser)
c.4445T>C (p.Phe1482Ser)
c.4562T>C (p.Phe1521Ser)
c.4448T>C (p.Phe1483Ser)
c.4511T>C (p.Phe1504Ser)
c.4559T>C (p.Phe1520Ser)
c.4541T>C (p.Phe1514Ser)
c.4469T>C (p.Phe1490Ser)
c.4496T>C (p.Phe1499Ser)
c.4499T>C (p.Phe1500Ser)
c.4538T>C (p.Phe1513Ser)
c.4508T>C (p.Phe1503Ser)
n.744T>C
n.1330T>C
c.4403T>C (p.Phe1468Ser)
c.4466T>C (p.Phe1489Ser)
c.4406T>C (p.Phe1469Ser)
c.4604T>C (p.Phe1535Ser)
c.4601T>C (p.Phe1534Ser)
n.4762T>C
2g.71643999T>GCA347217892DYSFc.1976T>G (p.Phe659Cys)
c.1193T>G (p.Phe398Cys)
c.1301T>G (p.Phe434Cys)
c.4445T>G (p.Phe1482Cys)
c.4562T>G (p.Phe1521Cys)
c.4448T>G (p.Phe1483Cys)
c.4511T>G (p.Phe1504Cys)
c.4559T>G (p.Phe1520Cys)
c.4541T>G (p.Phe1514Cys)
c.4469T>G (p.Phe1490Cys)
c.4496T>G (p.Phe1499Cys)
c.4499T>G (p.Phe1500Cys)
c.4538T>G (p.Phe1513Cys)
c.4508T>G (p.Phe1503Cys)
n.744T>G
n.1330T>G
c.4403T>G (p.Phe1468Cys)
c.4466T>G (p.Phe1489Cys)
c.4406T>G (p.Phe1469Cys)
c.4604T>G (p.Phe1535Cys)
c.4601T>G (p.Phe1534Cys)
n.4762T>G
2g.71644000T>ACA347217895DYSFc.1977T>A (p.Phe659Leu)
c.1194T>A (p.Phe398Leu)
c.1302T>A (p.Phe434Leu)
c.4446T>A (p.Phe1482Leu)
c.4563T>A (p.Phe1521Leu)
c.4449T>A (p.Phe1483Leu)
c.4512T>A (p.Phe1504Leu)
c.4560T>A (p.Phe1520Leu)
c.4542T>A (p.Phe1514Leu)
c.4470T>A (p.Phe1490Leu)
c.4497T>A (p.Phe1499Leu)
c.4500T>A (p.Phe1500Leu)
c.4539T>A (p.Phe1513Leu)
c.4509T>A (p.Phe1503Leu)
n.745T>A
n.1331T>A
c.4404T>A (p.Phe1468Leu)
c.4467T>A (p.Phe1489Leu)
c.4407T>A (p.Phe1469Leu)
c.4605T>A (p.Phe1535Leu)
c.4602T>A (p.Phe1534Leu)
n.4763T>A
 gnomAD v4
2g.71644000T>CCA426703053DYSFc.1977T>C (p.Phe659=)
c.1194T>C (p.Phe398=)
c.1302T>C (p.Phe434=)
c.4446T>C (p.Phe1482=)
c.4563T>C (p.Phe1521=)
c.4449T>C (p.Phe1483=)
c.4512T>C (p.Phe1504=)
c.4560T>C (p.Phe1520=)
c.4542T>C (p.Phe1514=)
c.4470T>C (p.Phe1490=)
c.4497T>C (p.Phe1499=)
c.4500T>C (p.Phe1500=)
c.4539T>C (p.Phe1513=)
c.4509T>C (p.Phe1503=)
n.745T>C
n.1331T>C
c.4404T>C (p.Phe1468=)
c.4467T>C (p.Phe1489=)
c.4407T>C (p.Phe1469=)
c.4605T>C (p.Phe1535=)
c.4602T>C (p.Phe1534=)
n.4763T>C
2g.71644000T>GCA347217896DYSFc.1977T>G (p.Phe659Leu)
c.1194T>G (p.Phe398Leu)
c.1302T>G (p.Phe434Leu)
c.4446T>G (p.Phe1482Leu)
c.4563T>G (p.Phe1521Leu)
c.4449T>G (p.Phe1483Leu)
c.4512T>G (p.Phe1504Leu)
c.4560T>G (p.Phe1520Leu)
c.4542T>G (p.Phe1514Leu)
c.4470T>G (p.Phe1490Leu)
c.4497T>G (p.Phe1499Leu)
c.4500T>G (p.Phe1500Leu)
c.4539T>G (p.Phe1513Leu)
c.4509T>G (p.Phe1503Leu)
n.745T>G
n.1331T>G
c.4404T>G (p.Phe1468Leu)
c.4467T>G (p.Phe1489Leu)
c.4407T>G (p.Phe1469Leu)
c.4605T>G (p.Phe1535Leu)
c.4602T>G (p.Phe1534Leu)
n.4763T>G
2g.71644001G>ACA347217899DYSFc.1978G>A (p.Ala660Thr)
c.1195G>A (p.Ala399Thr)
c.1303G>A (p.Ala435Thr)
c.4447G>A (p.Ala1483Thr)
c.4564G>A (p.Ala1522Thr)
c.4450G>A (p.Ala1484Thr)
c.4513G>A (p.Ala1505Thr)
c.4561G>A (p.Ala1521Thr)
c.4543G>A (p.Ala1515Thr)
c.4471G>A (p.Ala1491Thr)
c.4498G>A (p.Ala1500Thr)
c.4501G>A (p.Ala1501Thr)
c.4540G>A (p.Ala1514Thr)
c.4510G>A (p.Ala1504Thr)
n.746G>A
n.1332G>A
c.4405G>A (p.Ala1469Thr)
c.4468G>A (p.Ala1490Thr)
c.4408G>A (p.Ala1470Thr)
c.4606G>A (p.Ala1536Thr)
c.4603G>A (p.Ala1535Thr)
n.4764G>A
 gnomAD v4

Number of alleles fetched