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.104057031_104057061del | CA2610800885 | COL17A1 | c.1387_1417del (p.Trp464ProfsTer19) c.1339_1369del (p.Trp448ProfsTer19) | 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) | |
| 10 | g.104057073C>A | CA378073002 | COL17A1 | c.1367G>T (p.Cys456Phe) c.1319G>T (p.Cys440Phe) | |
| 10 | g.104057073C>G | CA378073003 | COL17A1 | c.1367G>C (p.Cys456Ser) c.1319G>C (p.Cys440Ser) | |
| 10 | g.104057073C>T | CA378073001 | COL17A1 | c.1367G>A (p.Cys456Tyr) c.1319G>A (p.Cys440Tyr) | |
| 10 | g.104057074A= | CA1933408590 | COL17A1 | c.1366T= (p.Cys456=) c.1318T= (p.Cys440=) | |
| 10 | g.104057074A>C | CA378073005 | COL17A1 | c.1366T>G (p.Cys456Gly) c.1318T>G (p.Cys440Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057074A>G | CA378073004 | COL17A1 | c.1366T>C (p.Cys456Arg) c.1318T>C (p.Cys440Arg) | |
| 10 | g.104057074A>T | CA378073006 | COL17A1 | c.1366T>A (p.Cys456Ser) c.1318T>A (p.Cys440Ser) | |
| 10 | g.104057075C>A | CA378073007 | COL17A1 | c.1365G>T (p.Trp455Cys) c.1317G>T (p.Trp439Cys) | |
| 10 | g.104057075C= | CA1933408595 | COL17A1 | c.1365G= (p.Trp455=) c.1317G= (p.Trp439=) | |
| 10 | g.104057075C>G | CA378073008 | COL17A1 | c.1365G>C (p.Trp455Cys) c.1317G>C (p.Trp439Cys) | |
| 10 | g.104057075C>T | CA378073009 | COL17A1 | c.1365G>A (p.Trp455Ter) c.1317G>A (p.Trp439Ter) | dbSNP |
| 10 | g.104057076C>A | CA378073010 | COL17A1 | c.1364G>T (p.Trp455Leu) c.1316G>T (p.Trp439Leu) | |
| 10 | g.104057076C>G | CA378073011 | COL17A1 | c.1364G>C (p.Trp455Ser) c.1316G>C (p.Trp439Ser) | |
| 10 | g.104057076C>T | CA378073012 | COL17A1 | c.1364G>A (p.Trp455Ter) c.1316G>A (p.Trp439Ter) | |
| 10 | g.104057077A>C | CA378073013 | COL17A1 | c.1363T>G (p.Trp455Gly) c.1315T>G (p.Trp439Gly) | |
| 10 | g.104057077A>G | CA378073014 | COL17A1 | c.1363T>C (p.Trp455Arg) c.1315T>C (p.Trp439Arg) | |
| 10 | g.104057077A>T | CA378073015 | COL17A1 | c.1363T>A (p.Trp455Arg) c.1315T>A (p.Trp439Arg) | |
| 10 | g.104057078G>A | CA471337853 | COL17A1 | c.1362C>T (p.Ala454=) c.1314C>T (p.Ala438=) | gnomAD v4 |
| 10 | g.104057078G>C | CA471337854 | COL17A1 | c.1362C>G (p.Ala454=) c.1314C>G (p.Ala438=) | |
| 10 | g.104057078G>T | CA471337855 | COL17A1 | c.1362C>A (p.Ala454=) c.1314C>A (p.Ala438=) | |
| 10 | g.104057079G>A | CA378073016 | COL17A1 | c.1361C>T (p.Ala454Val) c.1313C>T (p.Ala438Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057079G>C | CA378073017 | COL17A1 | c.1361C>G (p.Ala454Gly) c.1313C>G (p.Ala438Gly) | |
| 10 | g.104057079G= | CA1933408597 | COL17A1 | c.1361C= (p.Ala454=) c.1313C= (p.Ala438=) | |
| 10 | g.104057079G>T | CA378073018 | COL17A1 | c.1361C>A (p.Ala454Asp) c.1313C>A (p.Ala438Asp) | |
| 10 | g.104057080C>A | CA5679054 | COL17A1 | c.1360G>T (p.Ala454Ser) c.1312G>T (p.Ala438Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104057080C= | CA1933408600 | COL17A1 | c.1360G= (p.Ala454=) c.1312G= (p.Ala438=) | |
| 10 | g.104057080C>G | CA378073020 | COL17A1 | c.1360G>C (p.Ala454Pro) c.1312G>C (p.Ala438Pro) | |
| 10 | g.104057080C>T | CA378073019 | COL17A1 | c.1360G>A (p.Ala454Thr) c.1312G>A (p.Ala438Thr) | |
| 10 | g.104057081T>A | CA471337856 | COL17A1 | c.1359A>T (p.Pro453=) c.1311A>T (p.Pro437=) | |
| 10 | g.104057081T>C | CA471337857 | COL17A1 | c.1359A>G (p.Pro453=) c.1311A>G (p.Pro437=) | |
| 10 | g.104057081T>G | CA471337858 | COL17A1 | c.1359A>C (p.Pro453=) c.1311A>C (p.Pro437=) | |
| 10 | g.104057082G>A | CA378073021 | COL17A1 | c.1358C>T (p.Pro453Leu) c.1310C>T (p.Pro437Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057082G>C | CA378073022 | COL17A1 | c.1358C>G (p.Pro453Arg) c.1310C>G (p.Pro437Arg) | |
| 10 | g.104057082G= | CA1933408601 | COL17A1 | c.1358C= (p.Pro453=) c.1310C= (p.Pro437=) | |
| 10 | g.104057082G>T | CA378073023 | COL17A1 | c.1358C>A (p.Pro453Gln) c.1310C>A (p.Pro437Gln) | |
| 10 | g.104057083G>A | CA378073024 | COL17A1 | c.1357C>T (p.Pro453Ser) c.1309C>T (p.Pro437Ser) | dbSNP |
| 10 | g.104057083G>C | CA378073025 | COL17A1 | c.1357C>G (p.Pro453Ala) c.1309C>G (p.Pro437Ala) | |
| 10 | g.104057083G= | CA1933408605 | COL17A1 | c.1357C= (p.Pro453=) c.1309C= (p.Pro437=) | |
| 10 | g.104057083G>T | CA378073026 | COL17A1 | c.1357C>A (p.Pro453Thr) c.1309C>A (p.Pro437Thr) | |
| 10 | g.104057084C>A | CA471337859 | COL17A1 | c.1356G>T (p.Ala452=) c.1308G>T (p.Ala436=) | |
| 10 | g.104057084C= | CA1933408608 | COL17A1 | c.1356G= (p.Ala452=) c.1308G= (p.Ala436=) | |
| 10 | g.104057084C>G | CA471337860 | COL17A1 | c.1356G>C (p.Ala452=) c.1308G>C (p.Ala436=) | |
| 10 | g.104057084C>T | CA5679055 | COL17A1 | c.1356G>A (p.Ala452=) c.1308G>A (p.Ala436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057084_104057137delinsCGCTGGTCCCCAAGGGCCGCCGCCAGCGCCACCAACACCGCCACCTCCTCCACT | CA1933408610 | COL17A1 | c.1303_1356delinsAGTGGAGGAGGTGGCGGTGTTGGTGGCGCTGGCGGCGGCCCTTGGGGACCAGCG (p.Ser435=) c.1255_1308delinsAGTGGAGGAGGTGGCGGTGTTGGTGGCGCTGGCGGCGGCCCTTGGGGACCAGCG (p.Ser419=) | |
| 10 | g.104057085G>A | CA5679056 | COL17A1 | c.1355C>T (p.Ala452Val) c.1307C>T (p.Ala436Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057085G>C | CA378073027 | COL17A1 | c.1355C>G (p.Ala452Gly) c.1307C>G (p.Ala436Gly) | gnomAD v4 |
| 10 | g.104057085G= | CA1933408615 | COL17A1 | c.1355C= (p.Ala452=) c.1307C= (p.Ala436=) | |
| 10 | g.104057085G>T | CA378073028 | COL17A1 | c.1355C>A (p.Ala452Glu) c.1307C>A (p.Ala436Glu) | |
| 10 | g.104057087_104057139del | CA1933408613 | COL17A1 | c.1303_1355del (p.Ser435AlafsTer?) c.1255_1307del (p.Ser419AlafsTer?) | dbSNP |
| 10 | g.104057086C>A | CA378073029 | COL17A1 | c.1354G>T (p.Ala452Ser) c.1306G>T (p.Ala436Ser) | |
| 10 | g.104057086C= | CA1933408618 | COL17A1 | c.1354G= (p.Ala452=) c.1306G= (p.Ala436=) | |
| 10 | g.104057086C>G | CA378073030 | COL17A1 | c.1354G>C (p.Ala452Pro) c.1306G>C (p.Ala436Pro) | |
| 10 | g.104057086C>T | CA5679057 | COL17A1 | c.1354G>A (p.Ala452Thr) c.1306G>A (p.Ala436Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057087T>A | CA471337861 | COL17A1 | c.1353A>T (p.Pro451=) c.1305A>T (p.Pro435=) | |
| 10 | g.104057087T>C | CA5679058 | COL17A1 | c.1353A>G (p.Pro451=) c.1305A>G (p.Pro435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104057087T>G | CA471337862 | COL17A1 | c.1353A>C (p.Pro451=) c.1305A>C (p.Pro435=) | |
| 10 | g.104057087T= | CA1933408621 | COL17A1 | c.1353A= (p.Pro451=) c.1305A= (p.Pro435=) | |
| 10 | g.104057088G>A | CA378073033 | COL17A1 | c.1352C>T (p.Pro451Leu) c.1304C>T (p.Pro435Leu) | |
| 10 | g.104057088G>C | CA378073031 | COL17A1 | c.1352C>G (p.Pro451Arg) c.1304C>G (p.Pro435Arg) | |
| 10 | g.104057088G>T | CA378073032 | COL17A1 | c.1352C>A (p.Pro451Gln) c.1304C>A (p.Pro435Gln) | |
| 10 | g.104057089G>A | CA378073034 | COL17A1 | c.1351C>T (p.Pro451Ser) c.1303C>T (p.Pro435Ser) | gnomAD v4 |
| 10 | g.104057089G>C | CA378073035 | COL17A1 | c.1351C>G (p.Pro451Ala) c.1303C>G (p.Pro435Ala) | dbSNP |
| 10 | g.104057089G>T | CA378073036 | COL17A1 | c.1351C>A (p.Pro451Thr) c.1303C>A (p.Pro435Thr) | |
| 10 | g.104057090T>A | CA471337863 | COL17A1 | c.1350A>T (p.Gly450=) c.1302A>T (p.Gly434=) | |
| 10 | g.104057090T>C | CA5679059 | COL17A1 | c.1350A>G (p.Gly450=) c.1302A>G (p.Gly434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057090T>G | CA471337864 | COL17A1 | c.1350A>C (p.Gly450=) c.1302A>C (p.Gly434=) | |
| 10 | g.104057090T= | CA1933408627 | COL17A1 | c.1350A= (p.Gly450=) c.1302A= (p.Gly434=) | |
| 10 | g.104057091C>A | CA378073037 | COL17A1 | c.1349G>T (p.Gly450Val) c.1301G>T (p.Gly434Val) | |
| 10 | g.104057091C>G | CA378073038 | COL17A1 | c.1349G>C (p.Gly450Ala) c.1301G>C (p.Gly434Ala) | |
| 10 | g.104057091C>T | CA378073039 | COL17A1 | c.1349G>A (p.Gly450Glu) c.1301G>A (p.Gly434Glu) | dbSNP gnomAD v4 |
| 10 | g.104057094del | CA2574666601 | COL17A1 | c.1349del (p.Gly450AspfsTer?) c.1301del (p.Gly434AspfsTer?) | |
| 10 | g.104057092C>A | CA378073040 | COL17A1 | c.1348G>T (p.Gly450Ter) c.1300G>T (p.Gly434Ter) | |
| 10 | g.104057092C>G | CA378073041 | COL17A1 | c.1348G>C (p.Gly450Arg) c.1300G>C (p.Gly434Arg) | |
| 10 | g.104057092C>T | CA378073042 | COL17A1 | c.1348G>A (p.Gly450Arg) c.1300G>A (p.Gly434Arg) | gnomAD v4 |
| 10 | g.104057093C>A | CA378073045 | COL17A1 | c.1347G>T (p.Trp449Cys) c.1299G>T (p.Trp433Cys) | dbSNP |
| 10 | g.104057093C= | CA1933408631 | COL17A1 | c.1347G= (p.Trp449=) c.1299G= (p.Trp433=) | |
| 10 | g.104057093C>G | CA378073044 | COL17A1 | c.1347G>C (p.Trp449Cys) c.1299G>C (p.Trp433Cys) | |
| 10 | g.104057093C>T | CA378073043 | COL17A1 | c.1347G>A (p.Trp449Ter) c.1299G>A (p.Trp433Ter) | |
| 10 | g.104057094C>A | CA378073046 | COL17A1 | c.1346G>T (p.Trp449Leu) c.1298G>T (p.Trp433Leu) | |
| 10 | g.104057094C= | CA1933408634 | COL17A1 | c.1346G= (p.Trp449=) c.1298G= (p.Trp433=) | |
| 10 | g.104057094C>G | CA378073047 | COL17A1 | c.1346G>C (p.Trp449Ser) c.1298G>C (p.Trp433Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057094C>T | CA378073048 | COL17A1 | c.1346G>A (p.Trp449Ter) c.1298G>A (p.Trp433Ter) | gnomAD v4 |
| 10 | g.104057095A>C | CA378073049 | COL17A1 | c.1345T>G (p.Trp449Gly) c.1297T>G (p.Trp433Gly) | |
| 10 | g.104057095A>G | CA378073050 | COL17A1 | c.1345T>C (p.Trp449Arg) c.1297T>C (p.Trp433Arg) | |
| 10 | g.104057095A>T | CA378073051 | COL17A1 | c.1345T>A (p.Trp449Arg) c.1297T>A (p.Trp433Arg) | |
| 10 | g.104057096A= | CA1933408637 | COL17A1 | c.1344T= (p.Pro448=) c.1296T= (p.Pro432=) | |
| 10 | g.104057096A>C | CA471337867 | COL17A1 | c.1344T>G (p.Pro448=) c.1296T>G (p.Pro432=) | |
| 10 | g.104057096A>G | CA471337865 | COL17A1 | c.1344T>C (p.Pro448=) c.1296T>C (p.Pro432=) | dbSNP |
| 10 | g.104057096A>T | CA471337866 | COL17A1 | c.1344T>A (p.Pro448=) c.1296T>A (p.Pro432=) | |
| 10 | g.104057097G>A | CA378073052 | COL17A1 | c.1343C>T (p.Pro448Leu) c.1295C>T (p.Pro432Leu) | gnomAD v4 |
| 10 | g.104057097G>C | CA378073053 | COL17A1 | c.1343C>G (p.Pro448Arg) c.1295C>G (p.Pro432Arg) | |
| 10 | g.104057097G>T | CA378073054 | COL17A1 | c.1343C>A (p.Pro448His) c.1295C>A (p.Pro432His) | |
| 10 | g.104057098G>A | CA378073055 | COL17A1 | c.1342C>T (p.Pro448Ser) c.1294C>T (p.Pro432Ser) | |
| 10 | g.104057098G>C | CA378073056 | COL17A1 | c.1342C>G (p.Pro448Ala) c.1294C>G (p.Pro432Ala) | |
| 10 | g.104057098G>T | CA378073057 | COL17A1 | c.1342C>A (p.Pro448Thr) c.1294C>A (p.Pro432Thr) | |
| 10 | g.104057099G>A | CA471337868 | COL17A1 | c.1341C>T (p.Gly447=) c.1293C>T (p.Gly431=) | gnomAD v4 |
| 10 | g.104057099G>C | CA471337869 | COL17A1 | c.1341C>G (p.Gly447=) c.1293C>G (p.Gly431=) | dbSNP |
| 10 | g.104057099G= | CA1933408640 | COL17A1 | c.1341C= (p.Gly447=) c.1293C= (p.Gly431=) | |
| 10 | g.104057099G>T | CA471337870 | COL17A1 | c.1341C>A (p.Gly447=) c.1293C>A (p.Gly431=) | |
| 10 | g.104057099_104057108delinsGCCGCCGCCA | CA1933408641 | COL17A1 | c.1332_1341delinsTGGCGGCGGC (p.Ala444=) c.1284_1293delinsTGGCGGCGGC (p.Ala428=) | |
| 10 | g.104057100C>A | CA378073060 | COL17A1 | c.1340G>T (p.Gly447Val) c.1292G>T (p.Gly431Val) | |
| 10 | g.104057100C>G | CA378073059 | COL17A1 | c.1340G>C (p.Gly447Ala) c.1292G>C (p.Gly431Ala) | |
| 10 | g.104057100C>T | CA378073058 | COL17A1 | c.1340G>A (p.Gly447Asp) c.1292G>A (p.Gly431Asp) | |
| 10 | g.104057101dup | CA212420892 | COL17A1 | c.1340dup (p.Trp449LeufsTer?) c.1292dup (p.Trp433LeufsTer?) | dbSNP |
| 10 | g.104057100_104057108del | CA595683594 | COL17A1 | c.1332_1340del (p.Gly445_Gly447del) c.1284_1292del (p.Gly429_Gly431del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057101C>A | CA5679060 | COL17A1 | c.1339G>T (p.Gly447Cys) c.1291G>T (p.Gly431Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057101C= | CA1933408650 | COL17A1 | c.1339G= (p.Gly447=) c.1291G= (p.Gly431=) | |
| 10 | g.104057101C>G | CA378073061 | COL17A1 | c.1339G>C (p.Gly447Arg) c.1291G>C (p.Gly431Arg) | |
| 10 | g.104057101C>T | CA5679061 | COL17A1 | c.1339G>A (p.Gly447Ser) c.1291G>A (p.Gly431Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057105_104057113del | CA2610801070 | COL17A1 | c.1331_1339del (p.Ala444_Gly446del) c.1283_1291del (p.Ala428_Gly430del) | gnomAD v4 |
| 10 | g.104057102G>A | CA471337871 | COL17A1 | c.1338C>T (p.Gly446=) c.1290C>T (p.Gly430=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057102G>C | CA471337872 | COL17A1 | c.1338C>G (p.Gly446=) c.1290C>G (p.Gly430=) | dbSNP |
| 10 | g.104057102G= | CA1933408653 | COL17A1 | c.1338C= (p.Gly446=) c.1290C= (p.Gly430=) | |
| 10 | g.104057102G>T | CA471337873 | COL17A1 | c.1338C>A (p.Gly446=) c.1290C>A (p.Gly430=) | |
| 10 | g.104057103C>A | CA378073062 | COL17A1 | c.1337G>T (p.Gly446Val) c.1289G>T (p.Gly430Val) | |
| 10 | g.104057103C>G | CA378073063 | COL17A1 | c.1337G>C (p.Gly446Ala) c.1289G>C (p.Gly430Ala) | |
| 10 | g.104057103C>T | CA378073064 | COL17A1 | c.1337G>A (p.Gly446Asp) c.1289G>A (p.Gly430Asp) | |
| 10 | g.104057104C>A | CA378073065 | COL17A1 | c.1336G>T (p.Gly446Cys) c.1288G>T (p.Gly430Cys) | |
| 10 | g.104057104C= | CA1933408657 | COL17A1 | c.1336G= (p.Gly446=) c.1288G= (p.Gly430=) | |
| 10 | g.104057104C>G | CA212420894 | COL17A1 | c.1336G>C (p.Gly446Arg) c.1288G>C (p.Gly430Arg) | dbSNP |
| 10 | g.104057104C>T | CA5679062 | COL17A1 | c.1336G>A (p.Gly446Ser) c.1288G>A (p.Gly430Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057105G>A | CA5679063 | COL17A1 | c.1335C>T (p.Gly445=) c.1287C>T (p.Gly429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057105G>C | CA471337874 | COL17A1 | c.1335C>G (p.Gly445=) c.1287C>G (p.Gly429=) | |
| 10 | g.104057105G= | CA1933408660 | COL17A1 | c.1335C= (p.Gly445=) c.1287C= (p.Gly429=) | |
| 10 | g.104057105G>T | CA471337875 | COL17A1 | c.1335C>A (p.Gly445=) c.1287C>A (p.Gly429=) | gnomAD v4 |
| 10 | g.104057106C>A | CA378073066 | COL17A1 | c.1334G>T (p.Gly445Val) c.1286G>T (p.Gly429Val) | |
| 10 | g.104057106C>G | CA378073067 | COL17A1 | c.1334G>C (p.Gly445Ala) c.1286G>C (p.Gly429Ala) | |
| 10 | g.104057106C>T | CA378073068 | COL17A1 | c.1334G>A (p.Gly445Asp) c.1286G>A (p.Gly429Asp) | |
| 10 | g.104057107C>A | CA378073071 | COL17A1 | c.1333G>T (p.Gly445Cys) c.1285G>T (p.Gly429Cys) | |
| 10 | g.104057107C>G | CA378073070 | COL17A1 | c.1333G>C (p.Gly445Arg) c.1285G>C (p.Gly429Arg) | |
| 10 | g.104057107C>T | CA378073069 | COL17A1 | c.1333G>A (p.Gly445Ser) c.1285G>A (p.Gly429Ser) | |
| 10 | g.104057108A>C | CA471337876 | COL17A1 | c.1332T>G (p.Ala444=) c.1284T>G (p.Ala428=) | |
| 10 | g.104057108A>G | CA471337877 | COL17A1 | c.1332T>C (p.Ala444=) c.1284T>C (p.Ala428=) | |
| 10 | g.104057108A>T | CA471337878 | COL17A1 | c.1332T>A (p.Ala444=) c.1284T>A (p.Ala428=) | |
| 10 | g.104057109G>A | CA378073072 | COL17A1 | c.1331C>T (p.Ala444Val) c.1283C>T (p.Ala428Val) | |
| 10 | g.104057109G>C | CA378073073 | COL17A1 | c.1331C>G (p.Ala444Gly) c.1283C>G (p.Ala428Gly) | |
| 10 | g.104057109G>T | CA378073074 | COL17A1 | c.1331C>A (p.Ala444Asp) c.1283C>A (p.Ala428Asp) | |
| 10 | g.104057109_104057121delinsGCGCCACCAACAC | CA1933408663 | COL17A1 | c.1319_1331delinsGTGTTGGTGGCGC (p.Gly440=) c.1271_1283delinsGTGTTGGTGGCGC (p.Gly424=) | |
| 10 | g.104057110C>A | CA378073075 | COL17A1 | c.1330G>T (p.Ala444Ser) c.1282G>T (p.Ala428Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057110C= | CA1933408668 | COL17A1 | c.1330G= (p.Ala444=) c.1282G= (p.Ala428=) | |
| 10 | g.104057110C>G | CA378073076 | COL17A1 | c.1330G>C (p.Ala444Pro) c.1282G>C (p.Ala428Pro) | |
| 10 | g.104057110C>T | CA5679065 | COL17A1 | c.1330G>A (p.Ala444Thr) c.1282G>A (p.Ala428Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104057111_104057116del | CA2574666602 | COL17A1 | c.1325_1330del (p.Gly442_Gly443del) c.1277_1282del (p.Gly426_Gly427del) | |
| 10 | g.104057117_104057128del | CA1933408666 | COL17A1 | c.1319_1330del (p.Gly440_Gly443del) c.1271_1282del (p.Gly424_Gly427del) | dbSNP |
| 10 | g.104057110_104057137delinsCGCCACCAACACCGCCACCTCCTCCACT | CA1933408670 | COL17A1 | c.1303_1330delinsAGTGGAGGAGGTGGCGGTGTTGGTGGCG (p.Ser435=) c.1255_1282delinsAGTGGAGGAGGTGGCGGTGTTGGTGGCG (p.Ser419=) | |
| 10 | g.104057111G>A | CA5679066 | COL17A1 | c.1329C>T (p.Gly443=) c.1281C>T (p.Gly427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104057111G>C | CA471337879 | COL17A1 | c.1329C>G (p.Gly443=) c.1281C>G (p.Gly427=) | |
| 10 | g.104057111G= | CA1933408675 | COL17A1 | c.1329C= (p.Gly443=) c.1281C= (p.Gly427=) | |
| 10 | g.104057111G>T | CA471337880 | COL17A1 | c.1329C>A (p.Gly443=) c.1281C>A (p.Gly427=) | |
| 10 | g.104057118_104057144del | CA5679064 | COL17A1 | c.1303_1329del (p.Ser435_Gly443del) c.1255_1281del (p.Ser419_Gly427del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104057112C>A | CA5679067 | COL17A1 | c.1328G>T (p.Gly443Val) c.1280G>T (p.Gly427Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057112C= | CA1933408680 | COL17A1 | c.1328G= (p.Gly443=) c.1280G= (p.Gly427=) | |
| 10 | g.104057112C>G | CA378073087 | COL17A1 | c.1328G>C (p.Gly443Ala) c.1280G>C (p.Gly427Ala) | |
| 10 | g.104057112C>T | CA378073089 | COL17A1 | c.1328G>A (p.Gly443Asp) c.1280G>A (p.Gly427Asp) | |
| 10 | g.104057112_104057118delinsCCACCAA | CA1933408679 | COL17A1 | c.1322_1328delinsTTGGTGG (p.Val441=) c.1274_1280delinsTTGGTGG (p.Val425=) | |
| 10 | g.104057113C>A | CA378073094 | COL17A1 | c.1327G>T (p.Gly443Cys) c.1279G>T (p.Gly427Cys) | |
| 10 | g.104057113C>G | CA378073096 | COL17A1 | c.1327G>C (p.Gly443Arg) c.1279G>C (p.Gly427Arg) | |
| 10 | g.104057113C>T | CA378073092 | COL17A1 | c.1327G>A (p.Gly443Ser) c.1279G>A (p.Gly427Ser) | gnomAD v4 |
| 10 | g.104057117_104057122del | CA5679068 | COL17A1 | c.1322_1327del (p.Val441_Gly442del) c.1274_1279del (p.Val425_Gly426del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057114A>C | CA471337941 | COL17A1 | c.1326T>G (p.Gly442=) c.1278T>G (p.Gly426=) | |
| 10 | g.104057114A>G | CA471337942 | COL17A1 | c.1326T>C (p.Gly442=) c.1278T>C (p.Gly426=) | |
| 10 | g.104057114A>T | CA471337943 | COL17A1 | c.1326T>A (p.Gly442=) c.1278T>A (p.Gly426=) | |
| 10 | g.104057115C>A | CA378073099 | COL17A1 | c.1325G>T (p.Gly442Val) c.1277G>T (p.Gly426Val) | |
| 10 | g.104057115C= | CA1933408685 | COL17A1 | c.1325G= (p.Gly442=) c.1277G= (p.Gly426=) | |
| 10 | g.104057115C>G | CA378073101 | COL17A1 | c.1325G>C (p.Gly442Ala) c.1277G>C (p.Gly426Ala) | |
| 10 | g.104057115C>T | CA5679069 | COL17A1 | c.1325G>A (p.Gly442Asp) c.1277G>A (p.Gly426Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104057116C>A | CA378073104 | COL17A1 | c.1324G>T (p.Gly442Cys) c.1276G>T (p.Gly426Cys) | |
| 10 | g.104057116C>G | CA378073105 | COL17A1 | c.1324G>C (p.Gly442Arg) c.1276G>C (p.Gly426Arg) | |
| 10 | g.104057116C>T | CA378073107 | COL17A1 | c.1324G>A (p.Gly442Ser) c.1276G>A (p.Gly426Ser) | |
| 10 | g.104057117A= | CA1933408688 | COL17A1 | c.1323T= (p.Val441=) c.1275T= (p.Val425=) | |
| 10 | g.104057117A>C | CA471337944 | COL17A1 | c.1323T>G (p.Val441=) c.1275T>G (p.Val425=) | |
| 10 | g.104057117A>G | CA471337945 | COL17A1 | c.1323T>C (p.Val441=) c.1275T>C (p.Val425=) | dbSNP |
| 10 | g.104057117A>T | CA471337946 | COL17A1 | c.1323T>A (p.Val441=) c.1275T>A (p.Val425=) | |
| 10 | g.104057118A= | CA1933408690 | COL17A1 | c.1322T= (p.Val441=) c.1274T= (p.Val425=) | |
| 10 | g.104057118A>C | CA212420930 | COL17A1 | c.1322T>G (p.Val441Gly) c.1274T>G (p.Val425Gly) | dbSNP |
| 10 | g.104057118A>G | CA378073109 | COL17A1 | c.1322T>C (p.Val441Ala) c.1274T>C (p.Val425Ala) | dbSNP |
| 10 | g.104057118A>T | CA378073111 | COL17A1 | c.1322T>A (p.Val441Asp) c.1274T>A (p.Val425Asp) | |
| 10 | g.104057119C>A | CA378073113 | COL17A1 | c.1321G>T (p.Val441Phe) c.1273G>T (p.Val425Phe) | |
| 10 | g.104057119C>G | CA378073115 | COL17A1 | c.1321G>C (p.Val441Leu) c.1273G>C (p.Val425Leu) | |
| 10 | g.104057119C>T | CA378073117 | COL17A1 | c.1321G>A (p.Val441Ile) c.1273G>A (p.Val425Ile) | gnomAD v4 |
| 10 | g.104057120A>C | CA471337947 | COL17A1 | c.1320T>G (p.Gly440=) c.1272T>G (p.Gly424=) | |
| 10 | g.104057120A>G | CA471337948 | COL17A1 | c.1320T>C (p.Gly440=) c.1272T>C (p.Gly424=) | |
| 10 | g.104057120A>T | CA471337949 | COL17A1 | c.1320T>A (p.Gly440=) c.1272T>A (p.Gly424=) | |
| 10 | g.104057121C>A | CA378073120 | COL17A1 | c.1319G>T (p.Gly440Val) c.1271G>T (p.Gly424Val) | |
| 10 | g.104057121C>G | CA378073122 | COL17A1 | c.1319G>C (p.Gly440Ala) c.1271G>C (p.Gly424Ala) | |
| 10 | g.104057121C>T | CA378073119 | COL17A1 | c.1319G>A (p.Gly440Asp) c.1271G>A (p.Gly424Asp) | COSMIC |
| 10 | g.104057122C>A | CA378073124 | COL17A1 | c.1318G>T (p.Gly440Cys) c.1270G>T (p.Gly424Cys) | |
| 10 | g.104057122C= | CA1933408693 | COL17A1 | c.1318G= (p.Gly440=) c.1270G= (p.Gly424=) | |
| 10 | g.104057122C>G | CA378073126 | COL17A1 | c.1318G>C (p.Gly440Arg) c.1270G>C (p.Gly424Arg) | |
| 10 | g.104057122C>T | CA5679070 | COL17A1 | c.1318G>A (p.Gly440Ser) c.1270G>A (p.Gly424Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057123G>A | CA5679071 | COL17A1 | c.1317C>T (p.Gly439=) c.1269C>T (p.Gly423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057123G>C | CA471337950 | COL17A1 | c.1317C>G (p.Gly439=) c.1269C>G (p.Gly423=) | |
| 10 | g.104057123G= | CA1933408707 | COL17A1 | c.1317C= (p.Gly439=) c.1269C= (p.Gly423=) | |
| 10 | g.104057123G>T | CA471337951 | COL17A1 | c.1317C>A (p.Gly439=) c.1269C>A (p.Gly423=) | |
| 10 | g.104057123_104057144delinsGCCACCTCCTCCACTGCCACCA | CA1933408703 | COL17A1 | c.1296_1317delinsTGGTGGCAGTGGAGGAGGTGGC (p.Gly432=) c.1248_1269delinsTGGTGGCAGTGGAGGAGGTGGC (p.Gly416=) | |
| 10 | g.104057124C>A | CA378073133 | COL17A1 | c.1316G>T (p.Gly439Val) c.1268G>T (p.Gly423Val) | |
| 10 | g.104057124C>G | CA378073132 | COL17A1 | c.1316G>C (p.Gly439Ala) c.1268G>C (p.Gly423Ala) | |
| 10 | g.104057124C>T | CA378073129 | COL17A1 | c.1316G>A (p.Gly439Asp) c.1268G>A (p.Gly423Asp) | |
| 10 | g.104057129_104057149del | CA5679072 | COL17A1 | c.1296_1316del (p.Gly433_Gly439del) c.1248_1268del (p.Gly417_Gly423del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057125C>A | CA378073135 | COL17A1 | c.1315G>T (p.Gly439Cys) c.1267G>T (p.Gly423Cys) | |
| 10 | g.104057125C= | CA1933408716 | COL17A1 | c.1315G= (p.Gly439=) c.1267G= (p.Gly423=) | |
| 10 | g.104057125C>G | CA378073138 | COL17A1 | c.1315G>C (p.Gly439Arg) c.1267G>C (p.Gly423Arg) | |
| 10 | g.104057125C>T | CA378073139 | COL17A1 | c.1315G>A (p.Gly439Ser) c.1267G>A (p.Gly423Ser) | dbSNP |
| 10 | g.104057126A= | CA1933408719 | COL17A1 | c.1314T= (p.Gly438=) c.1266T= (p.Gly422=) | |
| 10 | g.104057126A>C | CA471337952 | COL17A1 | c.1314T>G (p.Gly438=) c.1266T>G (p.Gly422=) | |
| 10 | g.104057126A>G | CA471337953 | COL17A1 | c.1314T>C (p.Gly438=) c.1266T>C (p.Gly422=) | dbSNP |
| 10 | g.104057126A>T | CA471337954 | COL17A1 | c.1314T>A (p.Gly438=) c.1266T>A (p.Gly422=) | |
| 10 | g.104057127C>A | CA378073141 | COL17A1 | c.1313G>T (p.Gly438Val) c.1265G>T (p.Gly422Val) | |
| 10 | g.104057127C>G | CA378073143 | COL17A1 | c.1313G>C (p.Gly438Ala) c.1265G>C (p.Gly422Ala) | |
| 10 | g.104057127C>T | CA378073145 | COL17A1 | c.1313G>A (p.Gly438Asp) c.1265G>A (p.Gly422Asp) | |
| 10 | g.104057128C>A | CA378073149 | COL17A1 | c.1312G>T (p.Gly438Cys) c.1264G>T (p.Gly422Cys) | |
| 10 | g.104057128C>G | CA378073151 | COL17A1 | c.1312G>C (p.Gly438Arg) c.1264G>C (p.Gly422Arg) | |
| 10 | g.104057128C>T | CA378073148 | COL17A1 | c.1312G>A (p.Gly438Ser) c.1264G>A (p.Gly422Ser) | gnomAD v4 |
| 10 | g.104057129T>A | CA471337955 | COL17A1 | c.1311A>T (p.Gly437=) c.1263A>T (p.Gly421=) | |
| 10 | g.104057129T>C | CA471337956 | COL17A1 | c.1311A>G (p.Gly437=) c.1263A>G (p.Gly421=) | |
| 10 | g.104057129T>G | CA471337957 | COL17A1 | c.1311A>C (p.Gly437=) c.1263A>C (p.Gly421=) | |
| 10 | g.104057130C>A | CA378073153 | COL17A1 | c.1310G>T (p.Gly437Val) c.1262G>T (p.Gly421Val) | |
| 10 | g.104057130C= | CA1933408722 | COL17A1 | c.1310G= (p.Gly437=) c.1262G= (p.Gly421=) | |
| 10 | g.104057130C>G | CA378073155 | COL17A1 | c.1310G>C (p.Gly437Ala) c.1262G>C (p.Gly421Ala) | |
| 10 | g.104057130C>T | CA5679073 | COL17A1 | c.1310G>A (p.Gly437Glu) c.1262G>A (p.Gly421Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057131C>A | CA378073157 | COL17A1 | c.1309G>T (p.Gly437Ter) c.1261G>T (p.Gly421Ter) | COSMIC |
| 10 | g.104057131C= | CA1933408723 | COL17A1 | c.1309G= (p.Gly437=) c.1261G= (p.Gly421=) | |
| 10 | g.104057131C>G | CA378073160 | COL17A1 | c.1309G>C (p.Gly437Arg) c.1261G>C (p.Gly421Arg) | |
| 10 | g.104057131C>T | CA378073159 | COL17A1 | c.1309G>A (p.Gly437Arg) c.1261G>A (p.Gly421Arg) | dbSNP gnomAD v3 gnomAD v4 |