UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104056972T>C | CA5679040 | COL17A1 | c.1465+3A>G (n.1465+3A>G) c.1417+3A>G (n.1417+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104056972T= | CA1933408414 | COL17A1 | c.1465+3A= (n.1465+3A=) c.1417+3A= (n.1417+3A=) | |
| 10 | g.104056973A>C | CA378072790 | COL17A1 | c.1465+2T>G (n.1465+2T>G) c.1417+2T>G (n.1417+2T>G) | |
| 10 | g.104056973A>G | CA378072791 | COL17A1 | c.1465+2T>C (n.1465+2T>C) c.1417+2T>C (n.1417+2T>C) | gnomAD v4 |
| 10 | g.104056973A>T | CA378072792 | COL17A1 | c.1465+2T>A (n.1465+2T>A) c.1417+2T>A (n.1417+2T>A) | |
| 10 | g.104056974C>A | CA378072793 | COL17A1 | c.1465+1G>T (n.1465+1G>T) c.1417+1G>T (n.1417+1G>T) | gnomAD v4 |
| 10 | g.104056974C= | CA1933408427 | COL17A1 | c.1465+1G= (n.1465+1G=) c.1417+1G= (n.1417+1G=) | |
| 10 | g.104056974C>G | CA378072794 | COL17A1 | c.1465+1G>C (n.1465+1G>C) c.1417+1G>C (n.1417+1G>C) | |
| 10 | g.104056974C>T | CA378072795 | COL17A1 | c.1465+1G>A (n.1465+1G>A) c.1417+1G>A (n.1417+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104056976del | CA2610800824 | COL17A1 | c.1465+1del c.1417+1del | gnomAD v4 |
| 10 | g.104056975C>A | CA378072798 | COL17A1 | c.1465G>T (p.Ala489Ser) c.1417G>T (p.Ala473Ser) | gnomAD v4 |
| 10 | g.104056975C= | CA1933408430 | COL17A1 | c.1465G= (p.Ala489=) c.1417G= (p.Ala473=) | |
| 10 | g.104056975C>G | CA378072796 | COL17A1 | c.1465G>C (p.Ala489Pro) c.1417G>C (p.Ala473Pro) | dbSNP |
| 10 | g.104056975C>T | CA378072797 | COL17A1 | c.1465G>A (p.Ala489Thr) c.1417G>A (p.Ala473Thr) | |
| 10 | g.104056976C>A | CA471337781 | COL17A1 | c.1464G>T (p.Leu488=) c.1416G>T (p.Leu472=) | gnomAD v4 |
| 10 | g.104056976C>G | CA471337782 | COL17A1 | c.1464G>C (p.Leu488=) c.1416G>C (p.Leu472=) | |
| 10 | g.104056976C>T | CA471337783 | COL17A1 | c.1464G>A (p.Leu488=) c.1416G>A (p.Leu472=) | gnomAD v4 |
| 10 | g.104056977A>C | CA378072799 | COL17A1 | c.1463T>G (p.Leu488Arg) c.1415T>G (p.Leu472Arg) | |
| 10 | g.104056977A>G | CA378072800 | COL17A1 | c.1463T>C (p.Leu488Pro) c.1415T>C (p.Leu472Pro) | gnomAD v4 |
| 10 | g.104056977A>T | CA378072801 | COL17A1 | c.1463T>A (p.Leu488Gln) c.1415T>A (p.Leu472Gln) | |
| 10 | g.104056978G>A | CA471337784 | COL17A1 | c.1462C>T (p.Leu488=) c.1414C>T (p.Leu472=) | dbSNP gnomAD v2 |
| 10 | g.104056978G>C | CA378072802 | COL17A1 | c.1462C>G (p.Leu488Val) c.1414C>G (p.Leu472Val) | |
| 10 | g.104056978G= | CA1933408435 | COL17A1 | c.1462C= (p.Leu488=) c.1414C= (p.Leu472=) | |
| 10 | g.104056978G>T | CA378072803 | COL17A1 | c.1462C>A (p.Leu488Met) c.1414C>A (p.Leu472Met) | |
| 10 | g.104056979A>C | CA471337785 | COL17A1 | c.1461T>G (p.Ala487=) c.1413T>G (p.Ala471=) | |
| 10 | g.104056979A>G | CA471337787 | COL17A1 | c.1461T>C (p.Ala487=) c.1413T>C (p.Ala471=) | |
| 10 | g.104056979A>T | CA471337786 | COL17A1 | c.1461T>A (p.Ala487=) c.1413T>A (p.Ala471=) | |
| 10 | g.104056980G>A | CA378072804 | COL17A1 | c.1460C>T (p.Ala487Val) c.1412C>T (p.Ala471Val) | gnomAD v4 |
| 10 | g.104056980G>C | CA378072805 | COL17A1 | c.1460C>G (p.Ala487Gly) c.1412C>G (p.Ala471Gly) | |
| 10 | g.104056980G>T | CA378072806 | COL17A1 | c.1460C>A (p.Ala487Asp) c.1412C>A (p.Ala471Asp) | |
| 10 | g.104056981C>A | CA378072807 | COL17A1 | c.1459G>T (p.Ala487Ser) c.1411G>T (p.Ala471Ser) | dbSNP gnomAD v4 |
| 10 | g.104056981C= | CA1933408440 | COL17A1 | c.1459G= (p.Ala487=) c.1411G= (p.Ala471=) | |
| 10 | g.104056981C>G | CA378072808 | COL17A1 | c.1459G>C (p.Ala487Pro) c.1411G>C (p.Ala471Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104056981C>T | CA378072809 | COL17A1 | c.1459G>A (p.Ala487Thr) c.1411G>A (p.Ala471Thr) | gnomAD v4 |
| 10 | g.104056982A= | CA1933408448 | COL17A1 | c.1458T= (p.Ile486=) c.1410T= (p.Ile470=) | |
| 10 | g.104056982A>C | CA378072810 | COL17A1 | c.1458T>G (p.Ile486Met) c.1410T>G (p.Ile470Met) | |
| 10 | g.104056982A>G | CA5679041 | COL17A1 | c.1458T>C (p.Ile486=) c.1410T>C (p.Ile470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104056982A>T | CA471337788 | COL17A1 | c.1458T>A (p.Ile486=) c.1410T>A (p.Ile470=) | gnomAD v4 |
| 10 | g.104056983A>C | CA378072813 | COL17A1 | c.1457T>G (p.Ile486Ser) c.1409T>G (p.Ile470Ser) | |
| 10 | g.104056983A>G | CA378072812 | COL17A1 | c.1457T>C (p.Ile486Thr) c.1409T>C (p.Ile470Thr) | gnomAD v4 |
| 10 | g.104056983A>T | CA378072811 | COL17A1 | c.1457T>A (p.Ile486Asn) c.1409T>A (p.Ile470Asn) | |
| 10 | g.104056984T>A | CA378072814 | COL17A1 | c.1456A>T (p.Ile486Phe) c.1408A>T (p.Ile470Phe) | |
| 10 | g.104056984T>C | CA378072815 | COL17A1 | c.1456A>G (p.Ile486Val) c.1408A>G (p.Ile470Val) | gnomAD v4 |
| 10 | g.104056984T>G | CA378072816 | COL17A1 | c.1456A>C (p.Ile486Leu) c.1408A>C (p.Ile470Leu) | |
| 10 | g.104056985G>A | CA471337789 | COL17A1 | c.1455C>T (p.Leu485=) c.1407C>T (p.Leu469=) | gnomAD v4 |
| 10 | g.104056985G>C | CA5679042 | COL17A1 | c.1455C>G (p.Leu485=) c.1407C>G (p.Leu469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104056985G= | CA1933408451 | COL17A1 | c.1455C= (p.Leu485=) c.1407C= (p.Leu469=) | |
| 10 | g.104056985G>T | CA471337790 | COL17A1 | c.1455C>A (p.Leu485=) c.1407C>A (p.Leu469=) | gnomAD v4 |
| 10 | g.104056986A>C | CA378072817 | COL17A1 | c.1454T>G (p.Leu485Arg) c.1406T>G (p.Leu469Arg) | |
| 10 | g.104056986A>G | CA378072818 | COL17A1 | c.1454T>C (p.Leu485Pro) c.1406T>C (p.Leu469Pro) | gnomAD v4 |
| 10 | g.104056986A>T | CA378072819 | COL17A1 | c.1454T>A (p.Leu485His) c.1406T>A (p.Leu469His) | gnomAD v4 |
| 10 | g.104056987G>A | CA378072820 | COL17A1 | c.1453C>T (p.Leu485Phe) c.1405C>T (p.Leu469Phe) | gnomAD v4 |
| 10 | g.104056987G>C | CA378072821 | COL17A1 | c.1453C>G (p.Leu485Val) c.1405C>G (p.Leu469Val) | |
| 10 | g.104056987G>T | CA378072822 | COL17A1 | c.1453C>A (p.Leu485Ile) c.1405C>A (p.Leu469Ile) | |
| 10 | g.104056988G>A | CA471337791 | COL17A1 | c.1452C>T (p.Gly484=) c.1404C>T (p.Gly468=) | gnomAD v4 |
| 10 | g.104056988G>C | CA471337792 | COL17A1 | c.1452C>G (p.Gly484=) c.1404C>G (p.Gly468=) | |
| 10 | g.104056988G>T | CA471337793 | COL17A1 | c.1452C>A (p.Gly484=) c.1404C>A (p.Gly468=) | gnomAD v4 |
| 10 | g.104056989C>A | CA378072823 | COL17A1 | c.1451G>T (p.Gly484Val) c.1403G>T (p.Gly468Val) | dbSNP gnomAD v4 |
| 10 | g.104056989C= | CA1933408454 | COL17A1 | c.1451G= (p.Gly484=) c.1403G= (p.Gly468=) | |
| 10 | g.104056989C>G | CA378072824 | COL17A1 | c.1451G>C (p.Gly484Ala) c.1403G>C (p.Gly468Ala) | |
| 10 | g.104056989C>T | CA378072825 | COL17A1 | c.1451G>A (p.Gly484Asp) c.1403G>A (p.Gly468Asp) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104056990C>A | CA378072826 | COL17A1 | c.1450G>T (p.Gly484Cys) c.1402G>T (p.Gly468Cys) | gnomAD v4 |
| 10 | g.104056990C= | CA1933408460 | COL17A1 | c.1450G= (p.Gly484=) c.1402G= (p.Gly468=) | |
| 10 | g.104056990C>G | CA378072827 | COL17A1 | c.1450G>C (p.Gly484Arg) c.1402G>C (p.Gly468Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104056990C>T | CA5679043 | COL17A1 | c.1450G>A (p.Gly484Ser) c.1402G>A (p.Gly468Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104056991G>A | CA471337794 | COL17A1 | c.1449C>T (p.Phe483=) c.1401C>T (p.Phe467=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104056991G>C | CA378072828 | COL17A1 | c.1449C>G (p.Phe483Leu) c.1401C>G (p.Phe467Leu) | gnomAD v4 |
| 10 | g.104056991G= | CA1933408466 | COL17A1 | c.1449C= (p.Phe483=) c.1401C= (p.Phe467=) | |
| 10 | g.104056991G>T | CA378072829 | COL17A1 | c.1449C>A (p.Phe483Leu) c.1401C>A (p.Phe467Leu) | gnomAD v4 |
| 10 | g.104056992A>C | CA378072830 | COL17A1 | c.1448T>G (p.Phe483Cys) c.1400T>G (p.Phe467Cys) | |
| 10 | g.104056992A>G | CA378072831 | COL17A1 | c.1448T>C (p.Phe483Ser) c.1400T>C (p.Phe467Ser) | |
| 10 | g.104056992A>T | CA378072832 | COL17A1 | c.1448T>A (p.Phe483Tyr) c.1400T>A (p.Phe467Tyr) | |
| 10 | g.104056993A>C | CA378072833 | COL17A1 | c.1447T>G (p.Phe483Val) c.1399T>G (p.Phe467Val) | |
| 10 | g.104056993A>G | CA378072834 | COL17A1 | c.1447T>C (p.Phe483Leu) c.1399T>C (p.Phe467Leu) | |
| 10 | g.104056993A>T | CA378072835 | COL17A1 | c.1447T>A (p.Phe483Ile) c.1399T>A (p.Phe467Ile) | |
| 10 | g.104056994G>A | CA5679044 | COL17A1 | c.1446C>T (p.Leu482=) c.1398C>T (p.Leu466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104056994G>C | CA471337795 | COL17A1 | c.1446C>G (p.Leu482=) c.1398C>G (p.Leu466=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104056994G= | CA1933408471 | COL17A1 | c.1446C= (p.Leu482=) c.1398C= (p.Leu466=) | |
| 10 | g.104056994G>T | CA471337796 | COL17A1 | c.1446C>A (p.Leu482=) c.1398C>A (p.Leu466=) | gnomAD v4 |
| 10 | g.104056995A>C | CA378072836 | COL17A1 | c.1445T>G (p.Leu482Arg) c.1397T>G (p.Leu466Arg) | |
| 10 | g.104056995A>G | CA378072837 | COL17A1 | c.1445T>C (p.Leu482Pro) c.1397T>C (p.Leu466Pro) | |
| 10 | g.104056995A>T | CA378072838 | COL17A1 | c.1445T>A (p.Leu482His) c.1397T>A (p.Leu466His) | gnomAD v4 |
| 10 | g.104056996G>A | CA378072839 | COL17A1 | c.1444C>T (p.Leu482Phe) c.1396C>T (p.Leu466Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104056996G>C | CA378072840 | COL17A1 | c.1444C>G (p.Leu482Val) c.1396C>G (p.Leu466Val) | gnomAD v4 |
| 10 | g.104056996G= | CA1933408477 | COL17A1 | c.1444C= (p.Leu482=) c.1396C= (p.Leu466=) | |
| 10 | g.104056996G>T | CA378072841 | COL17A1 | c.1444C>A (p.Leu482Ile) c.1396C>A (p.Leu466Ile) | |
| 10 | g.104056997C>A | CA471337797 | COL17A1 | c.1443G>T (p.Leu481=) c.1395G>T (p.Leu465=) | gnomAD v4 |
| 10 | g.104056997C>G | CA471337798 | COL17A1 | c.1443G>C (p.Leu481=) c.1395G>C (p.Leu465=) | |
| 10 | g.104056997C>T | CA471337799 | COL17A1 | c.1443G>A (p.Leu481=) c.1395G>A (p.Leu465=) | gnomAD v4 |
| 10 | g.104056998A>C | CA378072844 | COL17A1 | c.1442T>G (p.Leu481Arg) c.1394T>G (p.Leu465Arg) | |
| 10 | g.104056998A>G | CA378072842 | COL17A1 | c.1442T>C (p.Leu481Pro) c.1394T>C (p.Leu465Pro) | |
| 10 | g.104056998A>T | CA378072843 | COL17A1 | c.1442T>A (p.Leu481Gln) c.1394T>A (p.Leu465Gln) | |
| 10 | g.104056999G>A | CA471337800 | COL17A1 | c.1441C>T (p.Leu481=) c.1393C>T (p.Leu465=) | gnomAD v4 |
| 10 | g.104056999G>C | CA378072845 | COL17A1 | c.1441C>G (p.Leu481Val) c.1393C>G (p.Leu465Val) | |
| 10 | g.104056999G>T | CA378072846 | COL17A1 | c.1441C>A (p.Leu481Met) c.1393C>A (p.Leu465Met) | gnomAD v4 |
| 10 | g.104057000C>A | CA471337802 | COL17A1 | c.1440G>T (p.Gly480=) c.1392G>T (p.Gly464=) | gnomAD v4 |
| 10 | g.104057000C>G | CA471337803 | COL17A1 | c.1440G>C (p.Gly480=) c.1392G>C (p.Gly464=) | |
| 10 | g.104057000C>T | CA471337801 | COL17A1 | c.1440G>A (p.Gly480=) c.1392G>A (p.Gly464=) | gnomAD v4 |
| 10 | g.104057003del | CA2610800862 | COL17A1 | c.1440del (p.Leu481CysfsTer12) c.1392del (p.Leu465CysfsTer12) | gnomAD v4 |
| 10 | g.104057001C>A | CA378072847 | COL17A1 | c.1439G>T (p.Gly480Val) c.1391G>T (p.Gly464Val) | dbSNP gnomAD v4 |
| 10 | g.104057001C= | CA1933408481 | COL17A1 | c.1439G= (p.Gly480=) c.1391G= (p.Gly464=) | |
| 10 | g.104057001C>G | CA378072848 | COL17A1 | c.1439G>C (p.Gly480Ala) c.1391G>C (p.Gly464Ala) | |
| 10 | g.104057001C>T | CA378072849 | COL17A1 | c.1439G>A (p.Gly480Glu) c.1391G>A (p.Gly464Glu) | |
| 10 | g.104057002C>A | CA378072850 | COL17A1 | c.1438G>T (p.Gly480Trp) c.1390G>T (p.Gly464Trp) | gnomAD v4 |
| 10 | g.104057002C>G | CA378072851 | COL17A1 | c.1438G>C (p.Gly480Arg) c.1390G>C (p.Gly464Arg) | |
| 10 | g.104057002C>T | CA378072852 | COL17A1 | c.1438G>A (p.Gly480Arg) c.1390G>A (p.Gly464Arg) | gnomAD v4 |
| 10 | g.104057007_104057019del | CA2610800864 | COL17A1 | c.1426_1438del (p.Leu476GlyfsTer13) c.1378_1390del (p.Leu460GlyfsTer13) | gnomAD v4 |
| 10 | g.104057003C>A | CA5679045 | COL17A1 | c.1437G>T (p.Leu479=) c.1389G>T (p.Leu463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104057003C= | CA1933408484 | COL17A1 | c.1437G= (p.Leu479=) c.1389G= (p.Leu463=) | |
| 10 | g.104057003C>G | CA471337805 | COL17A1 | c.1437G>C (p.Leu479=) c.1389G>C (p.Leu463=) | |
| 10 | g.104057003C>T | CA471337804 | COL17A1 | c.1437G>A (p.Leu479=) c.1389G>A (p.Leu463=) | ClinVar gnomAD v4 |
| 10 | g.104057004A>C | CA378072853 | COL17A1 | c.1436T>G (p.Leu479Arg) c.1388T>G (p.Leu463Arg) | gnomAD v4 |
| 10 | g.104057004A>G | CA378072854 | COL17A1 | c.1436T>C (p.Leu479Pro) c.1388T>C (p.Leu463Pro) | |
| 10 | g.104057004A>T | CA378072855 | COL17A1 | c.1436T>A (p.Leu479Gln) c.1388T>A (p.Leu463Gln) | |
| 10 | g.104057005G>A | CA471337806 | COL17A1 | c.1435C>T (p.Leu479=) c.1387C>T (p.Leu463=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057005G>C | CA378072856 | COL17A1 | c.1435C>G (p.Leu479Val) c.1387C>G (p.Leu463Val) | |
| 10 | g.104057005G= | CA1933408486 | COL17A1 | c.1435C= (p.Leu479=) c.1387C= (p.Leu463=) | |
| 10 | g.104057005G>T | CA378072857 | COL17A1 | c.1435C>A (p.Leu479Met) c.1387C>A (p.Leu463Met) | gnomAD v4 |
| 10 | g.104057006G>A | CA471337807 | COL17A1 | c.1434C>T (p.Leu478=) c.1386C>T (p.Leu462=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057006G>C | CA471337809 | COL17A1 | c.1434C>G (p.Leu478=) c.1386C>G (p.Leu462=) | |
| 10 | g.104057006G= | CA1933408490 | COL17A1 | c.1434C= (p.Leu478=) c.1386C= (p.Leu462=) | |
| 10 | g.104057006G>T | CA471337808 | COL17A1 | c.1434C>A (p.Leu478=) c.1386C>A (p.Leu462=) | gnomAD v4 |
| 10 | g.104057007A= | CA1933408494 | COL17A1 | c.1433T= (p.Leu478=) c.1385T= (p.Leu462=) | |
| 10 | g.104057007A>C | CA378072858 | COL17A1 | c.1433T>G (p.Leu478Arg) c.1385T>G (p.Leu462Arg) | |
| 10 | g.104057007A>G | CA378072859 | COL17A1 | c.1433T>C (p.Leu478Pro) c.1385T>C (p.Leu462Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057007A>T | CA378072860 | COL17A1 | c.1433T>A (p.Leu478His) c.1385T>A (p.Leu462His) | |
| 10 | g.104057008G>A | CA378072861 | COL17A1 | c.1432C>T (p.Leu478Phe) c.1384C>T (p.Leu462Phe) | gnomAD v4 |
| 10 | g.104057008G>C | CA378072862 | COL17A1 | c.1432C>G (p.Leu478Val) c.1384C>G (p.Leu462Val) | |
| 10 | g.104057008G>T | CA378072863 | COL17A1 | c.1432C>A (p.Leu478Ile) c.1384C>A (p.Leu462Ile) | |
| 10 | g.104057009T>A | CA471337810 | COL17A1 | c.1431A>T (p.Leu477=) c.1383A>T (p.Leu461=) | |
| 10 | g.104057009T>C | CA471337811 | COL17A1 | c.1431A>G (p.Leu477=) c.1383A>G (p.Leu461=) | gnomAD v4 |
| 10 | g.104057009T>G | CA471337812 | COL17A1 | c.1431A>C (p.Leu477=) c.1383A>C (p.Leu461=) | dbSNP |
| 10 | g.104057010A>C | CA378072864 | COL17A1 | c.1430T>G (p.Leu477Arg) c.1382T>G (p.Leu461Arg) | |
| 10 | g.104057010A>G | CA378072865 | COL17A1 | c.1430T>C (p.Leu477Pro) c.1382T>C (p.Leu461Pro) | |
| 10 | g.104057010A>T | CA378072866 | COL17A1 | c.1430T>A (p.Leu477Gln) c.1382T>A (p.Leu461Gln) | |
| 10 | g.104057011G>A | CA5679046 | COL17A1 | c.1429C>T (p.Leu477=) c.1381C>T (p.Leu461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104057011G>C | CA378072867 | COL17A1 | c.1429C>G (p.Leu477Val) c.1381C>G (p.Leu461Val) | |
| 10 | g.104057011G= | CA1933408497 | COL17A1 | c.1429C= (p.Leu477=) c.1381C= (p.Leu461=) | |
| 10 | g.104057011G>T | CA378072868 | COL17A1 | c.1429C>A (p.Leu477Ile) c.1381C>A (p.Leu461Ile) | |
| 10 | g.104057012C>A | CA471337813 | COL17A1 | c.1428G>T (p.Leu476=) c.1380G>T (p.Leu460=) | gnomAD v4 |
| 10 | g.104057012C>G | CA471337814 | COL17A1 | c.1428G>C (p.Leu476=) c.1380G>C (p.Leu460=) | |
| 10 | g.104057012C>T | CA471337815 | COL17A1 | c.1428G>A (p.Leu476=) c.1380G>A (p.Leu460=) | gnomAD v4 |
| 10 | g.104057013A>C | CA378072871 | COL17A1 | c.1427T>G (p.Leu476Arg) c.1379T>G (p.Leu460Arg) | |
| 10 | g.104057013A>G | CA378072870 | COL17A1 | c.1427T>C (p.Leu476Pro) c.1379T>C (p.Leu460Pro) | |
| 10 | g.104057013A>T | CA378072869 | COL17A1 | c.1427T>A (p.Leu476Gln) c.1379T>A (p.Leu460Gln) | |
| 10 | g.104057014G>A | CA471337816 | COL17A1 | c.1426C>T (p.Leu476=) c.1378C>T (p.Leu460=) | gnomAD v4 |
| 10 | g.104057014G>C | CA378072872 | COL17A1 | c.1426C>G (p.Leu476Val) c.1378C>G (p.Leu460Val) | |
| 10 | g.104057014G>T | CA378072873 | COL17A1 | c.1426C>A (p.Leu476Met) c.1378C>A (p.Leu460Met) | gnomAD v4 |
| 10 | g.104057015C>A | CA378072874 | COL17A1 | c.1425G>T (p.Trp475Cys) c.1377G>T (p.Trp459Cys) | gnomAD v4 |
| 10 | g.104057015C>G | CA378072875 | COL17A1 | c.1425G>C (p.Trp475Cys) c.1377G>C (p.Trp459Cys) | |
| 10 | g.104057015C>T | CA378072876 | COL17A1 | c.1425G>A (p.Trp475Ter) c.1377G>A (p.Trp459Ter) | gnomAD v4 |
| 10 | g.104057016C>A | CA378072877 | COL17A1 | c.1424G>T (p.Trp475Leu) c.1376G>T (p.Trp459Leu) | gnomAD v4 |
| 10 | g.104057016C= | CA1933408502 | COL17A1 | c.1424G= (p.Trp475=) c.1376G= (p.Trp459=) | |
| 10 | g.104057016C>G | CA378072878 | COL17A1 | c.1424G>C (p.Trp475Ser) c.1376G>C (p.Trp459Ser) | |
| 10 | g.104057016C>T | CA378072879 | COL17A1 | c.1424G>A (p.Trp475Ter) c.1376G>A (p.Trp459Ter) | ClinVar dbSNP |
| 10 | g.104057017A= | CA1933408505 | COL17A1 | c.1423T= (p.Trp475=) c.1375T= (p.Trp459=) | |
| 10 | g.104057017A>C | CA378072880 | COL17A1 | c.1423T>G (p.Trp475Gly) c.1375T>G (p.Trp459Gly) | |
| 10 | g.104057017A>G | CA378072881 | COL17A1 | c.1423T>C (p.Trp475Arg) c.1375T>C (p.Trp459Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057017A>T | CA378072882 | COL17A1 | c.1423T>A (p.Trp475Arg) c.1375T>A (p.Trp459Arg) | |
| 10 | g.104057018G>A | CA471337817 | COL17A1 | c.1422C>T (p.Thr474=) c.1374C>T (p.Thr458=) | |
| 10 | g.104057018G>C | CA212420831 | COL17A1 | c.1422C>G (p.Thr474=) c.1374C>G (p.Thr458=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057018G= | CA1933408509 | COL17A1 | c.1422C= (p.Thr474=) c.1374C= (p.Thr458=) | |
| 10 | g.104057018G>T | CA471337818 | COL17A1 | c.1422C>A (p.Thr474=) c.1374C>A (p.Thr458=) | |
| 10 | g.104057019G>A | CA378072883 | COL17A1 | c.1421C>T (p.Thr474Ile) c.1373C>T (p.Thr458Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104057019G>C | CA378072885 | COL17A1 | c.1421C>G (p.Thr474Ser) c.1373C>G (p.Thr458Ser) | |
| 10 | g.104057019G= | CA1933408512 | COL17A1 | c.1421C= (p.Thr474=) c.1373C= (p.Thr458=) | |
| 10 | g.104057019G>T | CA378072884 | COL17A1 | c.1421C>A (p.Thr474Asn) c.1373C>A (p.Thr458Asn) | |
| 10 | g.104057020T>A | CA378072886 | COL17A1 | c.1420A>T (p.Thr474Ser) c.1372A>T (p.Thr458Ser) | |
| 10 | g.104057020T>C | CA378072888 | COL17A1 | c.1420A>G (p.Thr474Ala) c.1372A>G (p.Thr458Ala) | |
| 10 | g.104057020T>G | CA378072887 | COL17A1 | c.1420A>C (p.Thr474Pro) c.1372A>C (p.Thr458Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057020T= | CA1933408515 | COL17A1 | c.1420A= (p.Thr474=) c.1372A= (p.Thr458=) | |
| 10 | g.104057021G>A | CA471337819 | COL17A1 | c.1419C>T (p.Leu473=) c.1371C>T (p.Leu457=) | gnomAD v4 COSMIC |
| 10 | g.104057021G>C | CA471337821 | COL17A1 | c.1419C>G (p.Leu473=) c.1371C>G (p.Leu457=) | |
| 10 | g.104057021G>T | CA471337820 | COL17A1 | c.1419C>A (p.Leu473=) c.1371C>A (p.Leu457=) | gnomAD v4 |
| 10 | g.104057022A= | CA1933408518 | COL17A1 | c.1418T= (p.Leu473=) c.1370T= (p.Leu457=) | |
| 10 | g.104057022A>C | CA378072889 | COL17A1 | c.1418T>G (p.Leu473Arg) c.1370T>G (p.Leu457Arg) | |
| 10 | g.104057022A>G | CA378072891 | COL17A1 | c.1418T>C (p.Leu473Pro) c.1370T>C (p.Leu457Pro) | dbSNP gnomAD v2 |
| 10 | g.104057022A>T | CA378072890 | COL17A1 | c.1418T>A (p.Leu473His) c.1370T>A (p.Leu457His) | |
| 10 | g.104057023G>A | CA378072892 | COL17A1 | c.1417C>T (p.Leu473Phe) c.1369C>T (p.Leu457Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104057023G>C | CA378072894 | COL17A1 | c.1417C>G (p.Leu473Val) c.1369C>G (p.Leu457Val) | |
| 10 | g.104057023G= | CA1933408520 | COL17A1 | c.1417C= (p.Leu473=) c.1369C= (p.Leu457=) | |
| 10 | g.104057023G>T | CA378072893 | COL17A1 | c.1417C>A (p.Leu473Ile) c.1369C>A (p.Leu457Ile) | |
| 10 | g.104057031_104057061del | CA2610800885 | COL17A1 | c.1387_1417del (p.Trp464ProfsTer19) c.1339_1369del (p.Trp448ProfsTer19) | gnomAD v4 |
| 10 | g.104057024C>A | CA471337822 | COL17A1 | c.1416G>T (p.Leu472=) c.1368G>T (p.Leu456=) | gnomAD v4 |
| 10 | g.104057024C= | CA1933408524 | COL17A1 | c.1416G= (p.Leu472=) c.1368G= (p.Leu456=) | |
| 10 | g.104057024C>G | CA212420838 | COL17A1 | c.1416G>C (p.Leu472=) c.1368G>C (p.Leu456=) | dbSNP gnomAD v4 |
| 10 | g.104057024C>T | CA471337823 | COL17A1 | c.1416G>A (p.Leu472=) c.1368G>A (p.Leu456=) | ClinVar |
| 10 | g.104057025A>C | CA378072895 | COL17A1 | c.1415T>G (p.Leu472Arg) c.1367T>G (p.Leu456Arg) | |
| 10 | g.104057025A>G | CA378072896 | COL17A1 | c.1415T>C (p.Leu472Pro) c.1367T>C (p.Leu456Pro) | |
| 10 | g.104057025A>T | CA378072897 | COL17A1 | c.1415T>A (p.Leu472Gln) c.1367T>A (p.Leu456Gln) | |
| 10 | g.104057026G>A | CA471337824 | COL17A1 | c.1414C>T (p.Leu472=) c.1366C>T (p.Leu456=) | gnomAD v4 |
| 10 | g.104057026G>C | CA378072898 | COL17A1 | c.1414C>G (p.Leu472Val) c.1366C>G (p.Leu456Val) | |
| 10 | g.104057026G= | CA1933408526 | COL17A1 | c.1414C= (p.Leu472=) c.1366C= (p.Leu456=) | |
| 10 | g.104057026G>T | CA378072899 | COL17A1 | c.1414C>A (p.Leu472Met) c.1366C>A (p.Leu456Met) | dbSNP gnomAD v4 |
| 10 | g.104057027C>A | CA471337825 | COL17A1 | c.1413G>T (p.Leu471=) c.1365G>T (p.Leu455=) | |
| 10 | g.104057027C= | CA1933408531 | COL17A1 | c.1413G= (p.Leu471=) c.1365G= (p.Leu455=) | |
| 10 | g.104057027C>G | CA471337826 | COL17A1 | c.1413G>C (p.Leu471=) c.1365G>C (p.Leu455=) | |
| 10 | g.104057027C>T | CA5679047 | COL17A1 | c.1413G>A (p.Leu471=) c.1365G>A (p.Leu455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104057028A>C | CA378072900 | COL17A1 | c.1412T>G (p.Leu471Arg) c.1364T>G (p.Leu455Arg) | |
| 10 | g.104057028A>G | CA378072901 | COL17A1 | c.1412T>C (p.Leu471Pro) c.1364T>C (p.Leu455Pro) | |
| 10 | g.104057028A>T | CA378072902 | COL17A1 | c.1412T>A (p.Leu471Gln) c.1364T>A (p.Leu455Gln) | |
| 10 | g.104057029G>A | CA471337827 | COL17A1 | c.1411C>T (p.Leu471=) c.1363C>T (p.Leu455=) | ClinVar gnomAD v4 |
| 10 | g.104057029G>C | CA378072903 | COL17A1 | c.1411C>G (p.Leu471Val) c.1363C>G (p.Leu455Val) | |
| 10 | g.104057029G>T | CA378072904 | COL17A1 | c.1411C>A (p.Leu471Met) c.1363C>A (p.Leu455Met) | |
| 10 | g.104057030G>A | CA471337828 | COL17A1 | c.1410C>T (p.Gly470=) c.1362C>T (p.Gly454=) | COSMIC |
| 10 | g.104057030G>C | CA471337829 | COL17A1 | c.1410C>G (p.Gly470=) c.1362C>G (p.Gly454=) | |
| 10 | g.104057030G>T | CA471337830 | COL17A1 | c.1410C>A (p.Gly470=) c.1362C>A (p.Gly454=) | gnomAD v4 |
| 10 | g.104057031C>A | CA378072907 | COL17A1 | c.1409G>T (p.Gly470Val) c.1361G>T (p.Gly454Val) | gnomAD v4 |
| 10 | g.104057031C>G | CA378072905 | COL17A1 | c.1409G>C (p.Gly470Ala) c.1361G>C (p.Gly454Ala) | |
| 10 | g.104057031C>T | CA378072906 | COL17A1 | c.1409G>A (p.Gly470Asp) c.1361G>A (p.Gly454Asp) | |
| 10 | g.104057032C>A | CA5679048 | COL17A1 | c.1408G>T (p.Gly470Cys) c.1360G>T (p.Gly454Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057032C= | CA1933408536 | COL17A1 | c.1408G= (p.Gly470=) c.1360G= (p.Gly454=) | |
| 10 | g.104057032C>G | CA378072908 | COL17A1 | c.1408G>C (p.Gly470Arg) c.1360G>C (p.Gly454Arg) | |
| 10 | g.104057032C>T | CA378072909 | COL17A1 | c.1408G>A (p.Gly470Ser) c.1360G>A (p.Gly454Ser) | |
| 10 | g.104057033C>A | CA471337831 | COL17A1 | c.1407G>T (p.Leu469=) c.1359G>T (p.Leu453=) | |
| 10 | g.104057033C= | CA1933408541 | COL17A1 | c.1407G= (p.Leu469=) c.1359G= (p.Leu453=) | |
| 10 | g.104057033C>G | CA471337832 | COL17A1 | c.1407G>C (p.Leu469=) c.1359G>C (p.Leu453=) | |
| 10 | g.104057033C>T | CA471337833 | COL17A1 | c.1407G>A (p.Leu469=) c.1359G>A (p.Leu453=) | dbSNP |
| 10 | g.104057034A= | CA1933408545 | COL17A1 | c.1406T= (p.Leu469=) c.1358T= (p.Leu453=) | |
| 10 | g.104057034A>C | CA378072910 | COL17A1 | c.1406T>G (p.Leu469Arg) c.1358T>G (p.Leu453Arg) | |
| 10 | g.104057034A>G | CA378072911 | COL17A1 | c.1406T>C (p.Leu469Pro) c.1358T>C (p.Leu453Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104057034A>T | CA378072912 | COL17A1 | c.1406T>A (p.Leu469Gln) c.1358T>A (p.Leu453Gln) | |
| 10 | g.104057035G>A | CA471337834 | COL17A1 | c.1405C>T (p.Leu469=) c.1357C>T (p.Leu453=) | gnomAD v4 |
| 10 | g.104057035G>C | CA378072913 | COL17A1 | c.1405C>G (p.Leu469Val) c.1357C>G (p.Leu453Val) | |
| 10 | g.104057035G>T | CA378072914 | COL17A1 | c.1405C>A (p.Leu469Met) c.1357C>A (p.Leu453Met) | |
| 10 | g.104057036C>A | CA471337835 | COL17A1 | c.1404G>T (p.Leu468=) c.1356G>T (p.Leu452=) | gnomAD v4 |
| 10 | g.104057036C>G | CA471337836 | COL17A1 | c.1404G>C (p.Leu468=) c.1356G>C (p.Leu452=) | |
| 10 | g.104057036C>T | CA471337837 | COL17A1 | c.1404G>A (p.Leu468=) c.1356G>A (p.Leu452=) | gnomAD v4 |
| 10 | g.104057037A>C | CA378072915 | COL17A1 | c.1403T>G (p.Leu468Arg) c.1355T>G (p.Leu452Arg) | |
| 10 | g.104057037A>G | CA378072916 | COL17A1 | c.1403T>C (p.Leu468Pro) c.1355T>C (p.Leu452Pro) | |
| 10 | g.104057037A>T | CA378072917 | COL17A1 | c.1403T>A (p.Leu468Gln) c.1355T>A (p.Leu452Gln) | |
| 10 | g.104057038G>A | CA471337838 | COL17A1 | c.1402C>T (p.Leu468=) c.1354C>T (p.Leu452=) | gnomAD v4 |
| 10 | g.104057038G>C | CA378072918 | COL17A1 | c.1402C>G (p.Leu468Val) c.1354C>G (p.Leu452Val) | |
| 10 | g.104057038G>T | CA378072919 | COL17A1 | c.1402C>A (p.Leu468Met) c.1354C>A (p.Leu452Met) | gnomAD v4 |
| 10 | g.104057039C>A | CA378072920 | COL17A1 | c.1401G>T (p.Trp467Cys) c.1353G>T (p.Trp451Cys) | |
| 10 | g.104057039C>G | CA378072921 | COL17A1 | c.1401G>C (p.Trp467Cys) c.1353G>C (p.Trp451Cys) | |
| 10 | g.104057039C>T | CA378072922 | COL17A1 | c.1401G>A (p.Trp467Ter) c.1353G>A (p.Trp451Ter) | |
| 10 | g.104057040C>A | CA378072923 | COL17A1 | c.1400G>T (p.Trp467Leu) c.1352G>T (p.Trp451Leu) | |
| 10 | g.104057040C>G | CA378072924 | COL17A1 | c.1400G>C (p.Trp467Ser) c.1352G>C (p.Trp451Ser) | |
| 10 | g.104057040C>T | CA378072925 | COL17A1 | c.1400G>A (p.Trp467Ter) c.1352G>A (p.Trp451Ter) | |
| 10 | g.104057041A>C | CA378072926 | COL17A1 | c.1399T>G (p.Trp467Gly) c.1351T>G (p.Trp451Gly) | |
| 10 | g.104057041A>G | CA378072927 | COL17A1 | c.1399T>C (p.Trp467Arg) c.1351T>C (p.Trp451Arg) | gnomAD v4 |
| 10 | g.104057041A>T | CA378072928 | COL17A1 | c.1399T>A (p.Trp467Arg) c.1351T>A (p.Trp451Arg) | ClinVar gnomAD v4 |
| 10 | g.104057042C>A | CA378072929 | COL17A1 | c.1398G>T (p.Lys466Asn) c.1350G>T (p.Lys450Asn) | |
| 10 | g.104057042C>G | CA378072930 | COL17A1 | c.1398G>C (p.Lys466Asn) c.1350G>C (p.Lys450Asn) | |
| 10 | g.104057042C>T | CA471337839 | COL17A1 | c.1398G>A (p.Lys466=) c.1350G>A (p.Lys450=) | |
| 10 | g.104057043T>A | CA378072933 | COL17A1 | c.1397A>T (p.Lys466Met) c.1349A>T (p.Lys450Met) | |
| 10 | g.104057043T>C | CA378072932 | COL17A1 | c.1397A>G (p.Lys466Arg) c.1349A>G (p.Lys450Arg) | |
| 10 | g.104057043T>G | CA378072931 | COL17A1 | c.1397A>C (p.Lys466Thr) c.1349A>C (p.Lys450Thr) | |
| 10 | g.104057044T>A | CA378072934 | COL17A1 | c.1396A>T (p.Lys466Ter) c.1348A>T (p.Lys450Ter) | |
| 10 | g.104057044T>C | CA378072935 | COL17A1 | c.1396A>G (p.Lys466Glu) c.1348A>G (p.Lys450Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057044T>G | CA378072936 | COL17A1 | c.1396A>C (p.Lys466Gln) c.1348A>C (p.Lys450Gln) | |
| 10 | g.104057044T= | CA1933408549 | COL17A1 | c.1396A= (p.Lys466=) c.1348A= (p.Lys450=) | |
| 10 | g.104057045C>A | CA378072937 | COL17A1 | c.1395G>T (p.Trp465Cys) c.1347G>T (p.Trp449Cys) | |
| 10 | g.104057045C>G | CA378072938 | COL17A1 | c.1395G>C (p.Trp465Cys) c.1347G>C (p.Trp449Cys) | |
| 10 | g.104057045C>T | CA378072939 | COL17A1 | c.1395G>A (p.Trp465Ter) c.1347G>A (p.Trp449Ter) | |
| 10 | g.104057046C>A | CA378072940 | COL17A1 | c.1394G>T (p.Trp465Leu) c.1346G>T (p.Trp449Leu) | |
| 10 | g.104057046C>G | CA378072941 | COL17A1 | c.1394G>C (p.Trp465Ser) c.1346G>C (p.Trp449Ser) | |
| 10 | g.104057046C>T | CA378072942 | COL17A1 | c.1394G>A (p.Trp465Ter) c.1346G>A (p.Trp449Ter) | |
| 10 | g.104057047A>C | CA378072943 | COL17A1 | c.1393T>G (p.Trp465Gly) c.1345T>G (p.Trp449Gly) | |
| 10 | g.104057047A>G | CA378072944 | COL17A1 | c.1393T>C (p.Trp465Arg) c.1345T>C (p.Trp449Arg) | |
| 10 | g.104057047A>T | CA378072945 | COL17A1 | c.1393T>A (p.Trp465Arg) c.1345T>A (p.Trp449Arg) | |
| 10 | g.104057048C>A | CA378072947 | COL17A1 | c.1392G>T (p.Trp464Cys) c.1344G>T (p.Trp448Cys) | |
| 10 | g.104057048C= | CA1933408553 | COL17A1 | c.1392G= (p.Trp464=) c.1344G= (p.Trp448=) | |
| 10 | g.104057048C>G | CA378072946 | COL17A1 | c.1392G>C (p.Trp464Cys) c.1344G>C (p.Trp448Cys) | |
| 10 | g.104057048C>T | CA212420860 | COL17A1 | c.1392G>A (p.Trp464Ter) c.1344G>A (p.Trp448Ter) | dbSNP |
| 10 | g.104057049C>A | CA378072948 | COL17A1 | c.1391G>T (p.Trp464Leu) c.1343G>T (p.Trp448Leu) | |
| 10 | g.104057049C= | CA1933408556 | COL17A1 | c.1391G= (p.Trp464=) c.1343G= (p.Trp448=) | |
| 10 | g.104057049C>G | CA378072949 | COL17A1 | c.1391G>C (p.Trp464Ser) c.1343G>C (p.Trp448Ser) | |
| 10 | g.104057049C>T | CA5679049 | COL17A1 | c.1391G>A (p.Trp464Ter) c.1343G>A (p.Trp448Ter) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.104057050A>C | CA378072950 | COL17A1 | c.1390T>G (p.Trp464Gly) c.1342T>G (p.Trp448Gly) | |
| 10 | g.104057050A>G | CA378072951 | COL17A1 | c.1390T>C (p.Trp464Arg) c.1342T>C (p.Trp448Arg) | gnomAD v4 |
| 10 | g.104057050A>T | CA378072952 | COL17A1 | c.1390T>A (p.Trp464Arg) c.1342T>A (p.Trp448Arg) | |
| 10 | g.104057051G>A | CA471337840 | COL17A1 | c.1389C>T (p.Ser463=) c.1341C>T (p.Ser447=) | gnomAD v4 |
| 10 | g.104057051G>C | CA378072953 | COL17A1 | c.1389C>G (p.Ser463Arg) c.1341C>G (p.Ser447Arg) | |
| 10 | g.104057051G>T | CA378072954 | COL17A1 | c.1389C>A (p.Ser463Arg) c.1341C>A (p.Ser447Arg) | gnomAD v4 |
| 10 | g.104057052C>A | CA378072955 | COL17A1 | c.1388G>T (p.Ser463Ile) c.1340G>T (p.Ser447Ile) | |
| 10 | g.104057052C>G | CA378072956 | COL17A1 | c.1388G>C (p.Ser463Thr) c.1340G>C (p.Ser447Thr) | |
| 10 | g.104057052C>T | CA378072957 | COL17A1 | c.1388G>A (p.Ser463Asn) c.1340G>A (p.Ser447Asn) | |
| 10 | g.104057053T>A | CA378072958 | COL17A1 | c.1387A>T (p.Ser463Cys) c.1339A>T (p.Ser447Cys) | gnomAD v4 |
| 10 | g.104057053T>C | CA378072959 | COL17A1 | c.1387A>G (p.Ser463Gly) c.1339A>G (p.Ser447Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057053T>G | CA378072960 | COL17A1 | c.1387A>C (p.Ser463Arg) c.1339A>C (p.Ser447Arg) | |
| 10 | g.104057053T= | CA1933408558 | COL17A1 | c.1387A= (p.Ser463=) c.1339A= (p.Ser447=) | |
| 10 | g.104057054G>A | CA471337841 | COL17A1 | c.1386C>T (p.Cys462=) c.1338C>T (p.Cys446=) | |
| 10 | g.104057054G>C | CA378072962 | COL17A1 | c.1386C>G (p.Cys462Trp) c.1338C>G (p.Cys446Trp) | |
| 10 | g.104057054G>T | CA378072961 | COL17A1 | c.1386C>A (p.Cys462Ter) c.1338C>A (p.Cys446Ter) | gnomAD v4 |
| 10 | g.104057055C>A | CA378072963 | COL17A1 | c.1385G>T (p.Cys462Phe) c.1337G>T (p.Cys446Phe) | dbSNP |
| 10 | g.104057055C= | CA1933408561 | COL17A1 | c.1385G= (p.Cys462=) c.1337G= (p.Cys446=) | |
| 10 | g.104057055C>G | CA378072964 | COL17A1 | c.1385G>C (p.Cys462Ser) c.1337G>C (p.Cys446Ser) | |
| 10 | g.104057055C>T | CA378072965 | COL17A1 | c.1385G>A (p.Cys462Tyr) c.1337G>A (p.Cys446Tyr) | |
| 10 | g.104057056A>C | CA378072966 | COL17A1 | c.1384T>G (p.Cys462Gly) c.1336T>G (p.Cys446Gly) | |
| 10 | g.104057056A>G | CA378072967 | COL17A1 | c.1384T>C (p.Cys462Arg) c.1336T>C (p.Cys446Arg) | |
| 10 | g.104057056A>T | CA378072968 | COL17A1 | c.1384T>A (p.Cys462Ser) c.1336T>A (p.Cys446Ser) | |
| 10 | g.104057057G>A | CA471337842 | COL17A1 | c.1383C>T (p.Cys461=) c.1335C>T (p.Cys445=) | |
| 10 | g.104057057G>C | CA378072969 | COL17A1 | c.1383C>G (p.Cys461Trp) c.1335C>G (p.Cys445Trp) | gnomAD v4 |
| 10 | g.104057057G>T | CA378072970 | COL17A1 | c.1383C>A (p.Cys461Ter) c.1335C>A (p.Cys445Ter) | |
| 10 | g.104057058C>A | CA378072971 | COL17A1 | c.1382G>T (p.Cys461Phe) c.1334G>T (p.Cys445Phe) | |
| 10 | g.104057058C>G | CA378072972 | COL17A1 | c.1382G>C (p.Cys461Ser) c.1334G>C (p.Cys445Ser) | |
| 10 | g.104057058C>T | CA378072973 | COL17A1 | c.1382G>A (p.Cys461Tyr) c.1334G>A (p.Cys445Tyr) | gnomAD v4 |
| 10 | g.104057059A>C | CA378072975 | COL17A1 | c.1381T>G (p.Cys461Gly) c.1333T>G (p.Cys445Gly) | |
| 10 | g.104057059A>G | CA378072976 | COL17A1 | c.1381T>C (p.Cys461Arg) c.1333T>C (p.Cys445Arg) | gnomAD v4 |
| 10 | g.104057059A>T | CA378072974 | COL17A1 | c.1381T>A (p.Cys461Ser) c.1333T>A (p.Cys445Ser) | |
| 10 | g.104057060G>A | CA471337843 | COL17A1 | c.1380C>T (p.Ser460=) c.1332C>T (p.Ser444=) | |
| 10 | g.104057060G>C | CA471337844 | COL17A1 | c.1380C>G (p.Ser460=) c.1332C>G (p.Ser444=) | |
| 10 | g.104057060G>T | CA471337845 | COL17A1 | c.1380C>A (p.Ser460=) c.1332C>A (p.Ser444=) | |
| 10 | g.104057060_104057107dup | CA2610800968 | COL17A1 | c.1333_1380dup (p.Ser460_Cys461insGlyGlyGlyProTrpGlyProAlaProAlaTrpCysProCysGlySer) c.1285_1332dup (p.Ser444_Cys445insGlyGlyGlyProTrpGlyProAlaProAlaTrpCysProCysGlySer) | dbSNP gnomAD v4 |
| 10 | g.104057061G>A | CA378072977 | COL17A1 | c.1379C>T (p.Ser460Phe) c.1331C>T (p.Ser444Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057061G>C | CA378072978 | COL17A1 | c.1379C>G (p.Ser460Cys) c.1331C>G (p.Ser444Cys) | |
| 10 | g.104057061G= | CA1933408564 | COL17A1 | c.1379C= (p.Ser460=) c.1331C= (p.Ser444=) | |
| 10 | g.104057061G>T | CA378072979 | COL17A1 | c.1379C>A (p.Ser460Tyr) c.1331C>A (p.Ser444Tyr) | |
| 10 | g.104057062A>C | CA378072980 | COL17A1 | c.1378T>G (p.Ser460Ala) c.1330T>G (p.Ser444Ala) | |
| 10 | g.104057062A>G | CA378072981 | COL17A1 | c.1378T>C (p.Ser460Pro) c.1330T>C (p.Ser444Pro) | |
| 10 | g.104057062A>T | CA378072982 | COL17A1 | c.1378T>A (p.Ser460Thr) c.1330T>A (p.Ser444Thr) | |
| 10 | g.104057063G>A | CA471337846 | COL17A1 | c.1377C>T (p.Gly459=) c.1329C>T (p.Gly443=) | dbSNP gnomAD v2 |
| 10 | g.104057063G>C | CA471337848 | COL17A1 | c.1377C>G (p.Gly459=) c.1329C>G (p.Gly443=) | |
| 10 | g.104057063G= | CA1933408567 | COL17A1 | c.1377C= (p.Gly459=) c.1329C= (p.Gly443=) | |
| 10 | g.104057063G>T | CA471337847 | COL17A1 | c.1377C>A (p.Gly459=) c.1329C>A (p.Gly443=) | |
| 10 | g.104057064C>A | CA378072983 | COL17A1 | c.1376G>T (p.Gly459Val) c.1328G>T (p.Gly443Val) | |
| 10 | g.104057064C>G | CA378072984 | COL17A1 | c.1376G>C (p.Gly459Ala) c.1328G>C (p.Gly443Ala) | |
| 10 | g.104057064C>T | CA378072985 | COL17A1 | c.1376G>A (p.Gly459Asp) c.1328G>A (p.Gly443Asp) | |
| 10 | g.104057065C>A | CA378072986 | COL17A1 | c.1375G>T (p.Gly459Cys) c.1327G>T (p.Gly443Cys) | |
| 10 | g.104057065C= | CA1933408572 | COL17A1 | c.1375G= (p.Gly459=) c.1327G= (p.Gly443=) | |
| 10 | g.104057065C>G | CA378072987 | COL17A1 | c.1375G>C (p.Gly459Arg) c.1327G>C (p.Gly443Arg) | |
| 10 | g.104057065C>T | CA5679050 | COL17A1 | c.1375G>A (p.Gly459Ser) c.1327G>A (p.Gly443Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057065_104057066insA | CA2610800987 | COL17A1 | c.1374_1375insT (p.Gly459TrpfsTer?) c.1326_1327insT (p.Gly443TrpfsTer?) | gnomAD v4 |
| 10 | g.104057066G>A | CA5679051 | COL17A1 | c.1374C>T (p.Cys458=) c.1326C>T (p.Cys442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057066G>C | CA378072988 | COL17A1 | c.1374C>G (p.Cys458Trp) c.1326C>G (p.Cys442Trp) | |
| 10 | g.104057066G= | CA1933408577 | COL17A1 | c.1374C= (p.Cys458=) c.1326C= (p.Cys442=) | |
| 10 | g.104057066G>T | CA212420868 | COL17A1 | c.1374C>A (p.Cys458Ter) c.1326C>A (p.Cys442Ter) | ClinVar dbSNP |
| 10 | g.104057066dup | CA2789321328 | COL17A1 | c.1374dup (p.Gly459ArgfsTer?) c.1326dup (p.Gly443ArgfsTer?) | |
| 10 | g.104057067C>A | CA378072989 | COL17A1 | c.1373G>T (p.Cys458Phe) c.1325G>T (p.Cys442Phe) | |
| 10 | g.104057067C>G | CA378072990 | COL17A1 | c.1373G>C (p.Cys458Ser) c.1325G>C (p.Cys442Ser) | |
| 10 | g.104057067C>T | CA378072991 | COL17A1 | c.1373G>A (p.Cys458Tyr) c.1325G>A (p.Cys442Tyr) | gnomAD v4 |
| 10 | g.104057068A>C | CA378072992 | COL17A1 | c.1372T>G (p.Cys458Gly) c.1324T>G (p.Cys442Gly) | |
| 10 | g.104057068A>G | CA378072993 | COL17A1 | c.1372T>C (p.Cys458Arg) c.1324T>C (p.Cys442Arg) | |
| 10 | g.104057068A>T | CA378072994 | COL17A1 | c.1372T>A (p.Cys458Ser) c.1324T>A (p.Cys442Ser) | |
| 10 | g.104057069G>A | CA471337851 | COL17A1 | c.1371C>T (p.Pro457=) c.1323C>T (p.Pro441=) | |
| 10 | g.104057069G>C | CA471337849 | COL17A1 | c.1371C>G (p.Pro457=) c.1323C>G (p.Pro441=) | |
| 10 | g.104057069G>T | CA471337850 | COL17A1 | c.1371C>A (p.Pro457=) c.1323C>A (p.Pro441=) | |
| 10 | g.104057069_104057087delinsGGGGCACCAGGCTGGCGCT | CA1933408580 | COL17A1 | c.1353_1371delinsAGCGCCAGCCTGGTGCCCC (p.Pro451=) c.1305_1323delinsAGCGCCAGCCTGGTGCCCC (p.Pro435=) | |
| 10 | g.104057070G>A | CA378072995 | COL17A1 | c.1370C>T (p.Pro457Leu) c.1322C>T (p.Pro441Leu) | |
| 10 | g.104057070G>C | CA378072997 | COL17A1 | c.1370C>G (p.Pro457Arg) c.1322C>G (p.Pro441Arg) | |
| 10 | g.104057070G>T | CA378072996 | COL17A1 | c.1370C>A (p.Pro457His) c.1322C>A (p.Pro441His) | |
| 10 | g.104057072_104057089del | CA595683593 | COL17A1 | c.1353_1370del (p.Ala452_Pro457del) c.1305_1322del (p.Ala436_Pro441del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057071G>A | CA378072998 | COL17A1 | c.1369C>T (p.Pro457Ser) c.1321C>T (p.Pro441Ser) | gnomAD v4 |
| 10 | g.104057071G>C | CA5679052 | COL17A1 | c.1369C>G (p.Pro457Ala) c.1321C>G (p.Pro441Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057071G= | CA1933408584 | COL17A1 | c.1369C= (p.Pro457=) c.1321C= (p.Pro441=) | |
| 10 | g.104057071G>T | CA378072999 | COL17A1 | c.1369C>A (p.Pro457Thr) c.1321C>A (p.Pro441Thr) | dbSNP |
| 10 | g.104057074_104057084del | CA2610801005 | COL17A1 | c.1359_1369del (p.Ala454LeufsTer?) c.1311_1321del (p.Ala438LeufsTer?) | gnomAD v4 |
| 10 | g.104057072G>A | CA471337852 | COL17A1 | c.1368C>T (p.Cys456=) c.1320C>T (p.Cys440=) | gnomAD v4 |
| 10 | g.104057072G>C | CA5679053 | COL17A1 | c.1368C>G (p.Cys456Trp) c.1320C>G (p.Cys440Trp) | dbSNP ExAC gnomAD v2 |
| 10 | g.104057072G= | CA1933408587 | COL17A1 | c.1368C= (p.Cys456=) c.1320C= (p.Cys440=) | |
| 10 | g.104057072G>T | CA378073000 | COL17A1 | c.1368C>A (p.Cys456Ter) c.1320C>A (p.Cys440Ter) |