Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52447765G>ACA6580415KRT6Bc.1424+13C>T (n.1424+13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447765G>CCA2575164849KRT6Bc.1424+13C>G (n.1424+13C>G)
12g.52447765G=CA2036493887KRT6Bc.1424+13C= (n.1424+13C=)
12g.52447767C=CA2036493894KRT6Bc.1424+11G= (n.1424+11G=)
12g.52447767C>TCA237233922KRT6Bc.1424+11G>A (n.1424+11G>A)
dbSNP gnomAD v2 gnomAD v4
12g.52447768A>GCA2618924546KRT6Bc.1424+10T>C (n.1424+10T>C)
gnomAD v4
12g.52447769G>ACA6580416KRT6Bc.1424+9C>T (n.1424+9C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447769G=CA2036493898KRT6Bc.1424+9C= (n.1424+9C=)
12g.52447771T>CCA947696927KRT6Bc.1424+7A>G (n.1424+7A>G)
dbSNP gnomAD v3 gnomAD v4
12g.52447771T=CA2036493901KRT6Bc.1424+7A= (n.1424+7A=)
12g.52447772A>GCA2618924547KRT6Bc.1424+6T>C (n.1424+6T>C)
gnomAD v4
12g.52447772_52447773delinsACCA2036493903KRT6Bc.1424+5_1424+6delinsGT (n.1424+5_1424+6delinsGT)
12g.52447773C>ACA6580417KRT6Bc.1424+5G>T (n.1424+5G>T)
dbSNP ExAC gnomAD v2
12g.52447773C=CA2036493915KRT6Bc.1424+5G= (n.1424+5G=)
12g.52447775delCA605240307KRT6Bc.1424+5del (n.1424+5del)
dbSNP gnomAD v2 gnomAD v4
12g.52447774C>ACA2575164850KRT6Bc.1424+4G>T (n.1424+4G>T)
gnomAD v4
12g.52447774C=CA2036493917KRT6Bc.1424+4G= (n.1424+4G=)
12g.52447774C>TCA6580418KRT6Bc.1424+4G>A (n.1424+4G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447775C=CA2036493921KRT6Bc.1424+3G= (n.1424+3G=)
12g.52447775C>TCA6580419KRT6Bc.1424+3G>A (n.1424+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52447776A=CA2036493932KRT6Bc.1424+2T= (n.1424+2T=)
12g.52447776A>CCA384981635KRT6Bc.1424+2T>G (n.1424+2T>G)
dbSNP gnomAD v2 gnomAD v4
12g.52447776A>GCA384981636KRT6Bc.1424+2T>C (n.1424+2T>C)
gnomAD v4
12g.52447776A>TCA384981640KRT6Bc.1424+2T>A (n.1424+2T>A)
COSMIC
12g.52447777C>ACA384981644KRT6Bc.1424+1G>T (n.1424+1G>T)
12g.52447777C>GCA384981647KRT6Bc.1424+1G>C (n.1424+1G>C)
12g.52447777C>TCA384981650KRT6Bc.1424+1G>A (n.1424+1G>A)
12g.52447778C>ACA384981658KRT6Bc.1424G>T (p.Arg475Met)
12g.52447778C=CA2036493941KRT6Bc.1424G= (p.Arg475=)
12g.52447778C>GCA384981653KRT6Bc.1424G>C (p.Arg475Thr)
gnomAD v4
12g.52447778C>TCA384981656KRT6Bc.1424G>A (p.Arg475Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52447779T>ACA384981661KRT6Bc.1423A>T (p.Arg475Trp)
gnomAD v4
12g.52447779T>CCA384981663KRT6Bc.1423A>G (p.Arg475Gly)
12g.52447779T>GCA480068855KRT6Bc.1423A>C (p.Arg475=)
12g.52447780G>ACA480068857KRT6Bc.1422C>T (p.Cys474=)
12g.52447780G>CCA384981666KRT6Bc.1422C>G (p.Cys474Trp)
gnomAD v4
12g.52447780G>TCA384981668KRT6Bc.1422C>A (p.Cys474Ter)
12g.52447781C>ACA384981672KRT6Bc.1421G>T (p.Cys474Phe)
12g.52447781C=CA2036493943KRT6Bc.1421G= (p.Cys474=)
12g.52447781C>GCA384981675KRT6Bc.1421G>C (p.Cys474Ser)
12g.52447781C>TCA384981678KRT6Bc.1421G>A (p.Cys474Tyr)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52447782A>CCA384981681KRT6Bc.1420T>G (p.Cys474Gly)
gnomAD v4
12g.52447782A>GCA384981684KRT6Bc.1420T>C (p.Cys474Arg)
gnomAD v4
12g.52447782A>TCA384981685KRT6Bc.1420T>A (p.Cys474Ser)
12g.52447783C>ACA384981689KRT6Bc.1419G>T (p.Glu473Asp)
12g.52447783C>GCA384981691KRT6Bc.1419G>C (p.Glu473Asp)
gnomAD v4
12g.52447783C>TCA480068858KRT6Bc.1419G>A (p.Glu473=)
12g.52447784T>ACA384981698KRT6Bc.1418A>T (p.Glu473Val)
12g.52447784T>CCA384981710KRT6Bc.1418A>G (p.Glu473Gly)
12g.52447784T>GCA384981694KRT6Bc.1418A>C (p.Glu473Ala)
12g.52447785C>ACA384981714KRT6Bc.1417G>T (p.Glu473Ter)
12g.52447785C>GCA384981718KRT6Bc.1417G>C (p.Glu473Gln)
12g.52447785C>TCA384981722KRT6Bc.1417G>A (p.Glu473Lys)
12g.52447786C>ACA384981727KRT6Bc.1416G>T (p.Glu472Asp)
12g.52447786C=CA2036493947KRT6Bc.1416G= (p.Glu472=)
12g.52447786C>GCA384981728KRT6Bc.1416G>C (p.Glu472Asp)
12g.52447786C>TCA6580420KRT6Bc.1416G>A (p.Glu472=)
dbSNP ExAC gnomAD v2
12g.52447787T>ACA384981734KRT6Bc.1415A>T (p.Glu472Val)
12g.52447787T>CCA384981736KRT6Bc.1415A>G (p.Glu472Gly)
12g.52447787T>GCA384981739KRT6Bc.1415A>C (p.Glu472Ala)
12g.52447788C>ACA384981741KRT6Bc.1414G>T (p.Glu472Ter)
12g.52447788C=CA2036493981KRT6Bc.1414G= (p.Glu472=)
12g.52447788C>GCA384981745KRT6Bc.1414G>C (p.Glu472Gln)
12g.52447788C>TCA210845KRT6Bc.1414G>A (p.Glu472Lys)
ClinVar dbSNP COSMIC
12g.52447789G>ACA6580421KRT6Bc.1413C>T (p.Gly471=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52447789G>CCA480068862KRT6Bc.1413C>G (p.Gly471=)
12g.52447789G=CA2036493990KRT6Bc.1413C= (p.Gly471=)
12g.52447789G>TCA480068863KRT6Bc.1413C>A (p.Gly471=)
12g.52447790C>ACA384981758KRT6Bc.1412G>T (p.Gly471Val)
12g.52447790C=CA2036494001KRT6Bc.1412G= (p.Gly471=)
12g.52447790C>GCA384981755KRT6Bc.1412G>C (p.Gly471Ala)
12g.52447790C>TCA384981753KRT6Bc.1412G>A (p.Gly471Asp)
dbSNP gnomAD v3 gnomAD v4
12g.52447791C>ACA6580422KRT6Bc.1411G>T (p.Gly471Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447791C=CA2036494007KRT6Bc.1411G= (p.Gly471=)
12g.52447791C>GCA384981761KRT6Bc.1411G>C (p.Gly471Arg)
12g.52447791C>TCA384981763KRT6Bc.1411G>A (p.Gly471Ser)
12g.52447792C>ACA384981766KRT6Bc.1410G>T (p.Glu470Asp)
12g.52447792C>GCA384981767KRT6Bc.1410G>C (p.Glu470Asp)
12g.52447792C>TCA480068864KRT6Bc.1410G>A (p.Glu470=)
gnomAD v4
12g.52447793T>ACA384981770KRT6Bc.1409A>T (p.Glu470Val)
12g.52447793T>CCA384981772KRT6Bc.1409A>G (p.Glu470Gly)
12g.52447793T>GCA384981776KRT6Bc.1409A>C (p.Glu470Ala)
12g.52447794C>ACA384981780KRT6Bc.1408G>T (p.Glu470Ter)
12g.52447794C>GCA384981781KRT6Bc.1408G>C (p.Glu470Gln)
12g.52447794C>TCA384981783KRT6Bc.1408G>A (p.Glu470Lys)
12g.52447795C>ACA480068868KRT6Bc.1407G>T (p.Leu469=)
12g.52447795C>GCA480068869KRT6Bc.1407G>C (p.Leu469=)
12g.52447795C>TCA480068870KRT6Bc.1407G>A (p.Leu469=)
12g.52447796A=CA2036494013KRT6Bc.1406T= (p.Leu469=)
12g.52447796A>CCA384981786KRT6Bc.1406T>G (p.Leu469Arg)
ClinVar dbSNP
12g.52447796A>GCA384981787KRT6Bc.1406T>C (p.Leu469Pro)
12g.52447796A>TCA384981788KRT6Bc.1406T>A (p.Leu469Gln)
12g.52447797G>ACA480068872KRT6Bc.1405C>T (p.Leu469=)
gnomAD v4
12g.52447797G>CCA384981789KRT6Bc.1405C>G (p.Leu469Val)
12g.52447797G>TCA384981790KRT6Bc.1405C>A (p.Leu469Met)
12g.52447798C>ACA480068873KRT6Bc.1404G>T (p.Leu468=)
12g.52447798C=CA2036494021KRT6Bc.1404G= (p.Leu468=)
12g.52447798C>GCA480068875KRT6Bc.1404G>C (p.Leu468=)
12g.52447798C>TCA480068877KRT6Bc.1404G>A (p.Leu468=)
dbSNP gnomAD v3 gnomAD v4
12g.52447799A>CCA384981793KRT6Bc.1403T>G (p.Leu468Arg)
12g.52447799A>GCA384981797KRT6Bc.1403T>C (p.Leu468Pro)
12g.52447799A>TCA384981794KRT6Bc.1403T>A (p.Leu468Gln)
12g.52447800G>ACA480068879KRT6Bc.1402C>T (p.Leu468=)
gnomAD v4
12g.52447800G>CCA384981799KRT6Bc.1402C>G (p.Leu468Val)
12g.52447800G>TCA384981800KRT6Bc.1402C>A (p.Leu468Met)
12g.52447801C>ACA384981803KRT6Bc.1401G>T (p.Lys467Asn)
12g.52447801C>GCA384981805KRT6Bc.1401G>C (p.Lys467Asn)
12g.52447801C>TCA480068880KRT6Bc.1401G>A (p.Lys467=)
gnomAD v4
12g.52447802T>ACA384981807KRT6Bc.1400A>T (p.Lys467Met)
12g.52447802T>CCA384981809KRT6Bc.1400A>G (p.Lys467Arg)
12g.52447802T>GCA384981810KRT6Bc.1400A>C (p.Lys467Thr)
12g.52447803T>ACA384981813KRT6Bc.1399A>T (p.Lys467Ter)
12g.52447803T>CCA384981814KRT6Bc.1399A>G (p.Lys467Glu)
12g.52447803T>GCA384981816KRT6Bc.1399A>C (p.Lys467Gln)
12g.52447803_52447804delCA2618924548KRT6Bc.1398_1399del (p.Lys467AlafsTer?)
gnomAD v4
12g.52447804G>ACA480068886KRT6Bc.1398C>T (p.Arg466=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52447804G>CCA480068885KRT6Bc.1398C>G (p.Arg466=)
12g.52447804G=CA2036494024KRT6Bc.1398C= (p.Arg466=)
12g.52447804G>TCA480068884KRT6Bc.1398C>A (p.Arg466=)
12g.52447805C>ACA6580424KRT6Bc.1397G>T (p.Arg466Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447805C=CA2036494033KRT6Bc.1397G= (p.Arg466=)
12g.52447805C>GCA384981820KRT6Bc.1397G>C (p.Arg466Pro)
12g.52447805C>TCA6580423KRT6Bc.1397G>A (p.Arg466His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52447806G>ACA6580425KRT6Bc.1396C>T (p.Arg466Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52447806G>CCA384981824KRT6Bc.1396C>G (p.Arg466Gly)
12g.52447806G=CA2036494043KRT6Bc.1396C= (p.Arg466=)
12g.52447806G>TCA384981827KRT6Bc.1396C>A (p.Arg466Ser)
12g.52447807G>ACA480068888KRT6Bc.1395C>T (p.Tyr465=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52447807G>CCA384981830KRT6Bc.1395C>G (p.Tyr465Ter)
12g.52447807G=CA2036494048KRT6Bc.1395C= (p.Tyr465=)
12g.52447807G>TCA384981829KRT6Bc.1395C>A (p.Tyr465Ter)
12g.52447808T>ACA384981832KRT6Bc.1394A>T (p.Tyr465Phe)
12g.52447808T>CCA384981834KRT6Bc.1394A>G (p.Tyr465Cys)
12g.52447808T>GCA384981835KRT6Bc.1394A>C (p.Tyr465Ser)
12g.52447809A>CCA384981837KRT6Bc.1393T>G (p.Tyr465Asp)
12g.52447809A>GCA384981839KRT6Bc.1393T>C (p.Tyr465His)
12g.52447809A>TCA384981840KRT6Bc.1393T>A (p.Tyr465Asn)
12g.52447810G>ACA480068890KRT6Bc.1392C>T (p.Thr464=)
dbSNP gnomAD v3 gnomAD v4
12g.52447810G>CCA480068891KRT6Bc.1392C>G (p.Thr464=)
12g.52447810G=CA2036494052KRT6Bc.1392C= (p.Thr464=)
12g.52447810G>TCA6580426KRT6Bc.1392C>A (p.Thr464=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52447811G>ACA384981844KRT6Bc.1391C>T (p.Thr464Ile)
12g.52447811G>CCA384981847KRT6Bc.1391C>G (p.Thr464Ser)
gnomAD v4
12g.52447811G>TCA384981849KRT6Bc.1391C>A (p.Thr464Asn)
12g.52447812T>ACA384981850KRT6Bc.1390A>T (p.Thr464Ser)
12g.52447812T>CCA384981852KRT6Bc.1390A>G (p.Thr464Ala)
dbSNP
12g.52447812T>GCA384981854KRT6Bc.1390A>C (p.Thr464Pro)
12g.52447812T=CA2036494055KRT6Bc.1390A= (p.Thr464=)
12g.52447813G>ACA480068895KRT6Bc.1389C>T (p.Ala463=)
gnomAD v4
12g.52447813G>CCA480068896KRT6Bc.1389C>G (p.Ala463=)
12g.52447813G>TCA480068897KRT6Bc.1389C>A (p.Ala463=)
12g.52447814G>ACA6580427KRT6Bc.1388C>T (p.Ala463Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447814G>CCA384981860KRT6Bc.1388C>G (p.Ala463Gly)
12g.52447814G=CA2036494056KRT6Bc.1388C= (p.Ala463=)
12g.52447814G>TCA384981857KRT6Bc.1388C>A (p.Ala463Asp)
12g.52447815C>ACA6580429KRT6Bc.1387G>T (p.Ala463Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447815C=CA2036494060KRT6Bc.1387G= (p.Ala463=)
12g.52447815C>GCA384981866KRT6Bc.1387G>C (p.Ala463Pro)
12g.52447815C>TCA6580428KRT6Bc.1387G>A (p.Ala463Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52447816G>ACA6580430KRT6Bc.1386C>T (p.Ile462=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52447816G>CCA384981872KRT6Bc.1386C>G (p.Ile462Met)
12g.52447816G=CA2036494064KRT6Bc.1386C= (p.Ile462=)
12g.52447816G>TCA480068898KRT6Bc.1386C>A (p.Ile462=)
gnomAD v4 COSMIC
12g.52447817A>CCA384981876KRT6Bc.1385T>G (p.Ile462Ser)
12g.52447817A>GCA384981878KRT6Bc.1385T>C (p.Ile462Thr)
12g.52447817A>TCA384981880KRT6Bc.1385T>A (p.Ile462Asn)
12g.52447818T>ACA384981884KRT6Bc.1384A>T (p.Ile462Phe)
COSMIC
12g.52447818T>CCA384981887KRT6Bc.1384A>G (p.Ile462Val)
dbSNP gnomAD v4
12g.52447818T>GCA384981889KRT6Bc.1384A>C (p.Ile462Leu)
12g.52447818T=CA2036494072KRT6Bc.1384A= (p.Ile462=)
12g.52447819C>ACA384981897KRT6Bc.1383G>T (p.Glu461Asp)
12g.52447819C=CA2036494076KRT6Bc.1383G= (p.Glu461=)
12g.52447819C>GCA384981894KRT6Bc.1383G>C (p.Glu461Asp)
12g.52447819C>TCA6580431KRT6Bc.1383G>A (p.Glu461=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447820T>ACA384981901KRT6Bc.1382A>T (p.Glu461Val)
12g.52447820T>CCA384981902KRT6Bc.1382A>G (p.Glu461Gly)
12g.52447820T>GCA384981905KRT6Bc.1382A>C (p.Glu461Ala)
12g.52447821C>ACA384981909KRT6Bc.1381G>T (p.Glu461Ter)
12g.52447821C=CA2036494081KRT6Bc.1381G= (p.Glu461=)
12g.52447821C>GCA384981912KRT6Bc.1381G>C (p.Glu461Gln)
12g.52447821C>TCA217366KRT6Bc.1381G>A (p.Glu461Lys)
ClinVar dbSNP COSMIC
12g.52447822C>ACA480068900KRT6Bc.1380G>T (p.Val460=)
12g.52447822C>GCA480068901KRT6Bc.1380G>C (p.Val460=)
gnomAD v4
12g.52447822C>TCA480068899KRT6Bc.1380G>A (p.Val460=)
12g.52447823A>CCA384981916KRT6Bc.1379T>G (p.Val460Gly)
12g.52447823A>GCA384981919KRT6Bc.1379T>C (p.Val460Ala)
12g.52447823A>TCA384981922KRT6Bc.1379T>A (p.Val460Glu)
12g.52447824C>ACA384981926KRT6Bc.1378G>T (p.Val460Leu)
12g.52447824C>GCA384981928KRT6Bc.1378G>C (p.Val460Leu)
12g.52447824C>TCA384981930KRT6Bc.1378G>A (p.Val460Met)
gnomAD v4
12g.52447825A=CA2036494090KRT6Bc.1377T= (p.Asp459=)
12g.52447825A>CCA384981937KRT6Bc.1377T>G (p.Asp459Glu)
12g.52447825A>GCA6580432KRT6Bc.1377T>C (p.Asp459=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447825A>TCA384981935KRT6Bc.1377T>A (p.Asp459Glu)
12g.52447826T>ACA384981940KRT6Bc.1376A>T (p.Asp459Val)
12g.52447826T>CCA384981942KRT6Bc.1376A>G (p.Asp459Gly)
gnomAD v4
12g.52447826T>GCA384981944KRT6Bc.1376A>C (p.Asp459Ala)
12g.52447827C>ACA384981946KRT6Bc.1375G>T (p.Asp459Tyr)
12g.52447827C>GCA384981948KRT6Bc.1375G>C (p.Asp459His)
12g.52447827C>TCA384981950KRT6Bc.1375G>A (p.Asp459Asn)
12g.52447828C>ACA480068906KRT6Bc.1374G>T (p.Leu458=)
12g.52447828C=CA2036494112KRT6Bc.1374G= (p.Leu458=)
12g.52447828C>GCA480068905KRT6Bc.1374G>C (p.Leu458=)
12g.52447828C>TCA6580433KRT6Bc.1374G>A (p.Leu458=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447829A>CCA384981954KRT6Bc.1373T>G (p.Leu458Arg)
12g.52447829A>GCA384981956KRT6Bc.1373T>C (p.Leu458Pro)
gnomAD v4
12g.52447829A>TCA384981960KRT6Bc.1373T>A (p.Leu458Gln)
12g.52447830G>ACA480068907KRT6Bc.1372C>T (p.Leu458=)
dbSNP gnomAD v2 gnomAD v4
12g.52447830G>CCA384981963KRT6Bc.1372C>G (p.Leu458Val)
12g.52447830G=CA2036494115KRT6Bc.1372C= (p.Leu458=)
12g.52447830G>TCA384981965KRT6Bc.1372C>A (p.Leu458Met)
12g.52447831G>ACA480068908KRT6Bc.1371C>T (p.Ala457=)
12g.52447831G>CCA480068909KRT6Bc.1371C>G (p.Ala457=)
12g.52447831G=CA2036494117KRT6Bc.1371C= (p.Ala457=)
12g.52447831G>TCA6580434KRT6Bc.1371C>A (p.Ala457=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447832G>ACA384981976KRT6Bc.1370C>T (p.Ala457Val)
12g.52447832G>CCA384981973KRT6Bc.1370C>G (p.Ala457Gly)
dbSNP gnomAD v4
12g.52447832G=CA2036494120KRT6Bc.1370C= (p.Ala457=)
12g.52447832G>TCA384981971KRT6Bc.1370C>A (p.Ala457Asp)
12g.52447833C>ACA384981979KRT6Bc.1369G>T (p.Ala457Ser)
12g.52447833C=CA2036494124KRT6Bc.1369G= (p.Ala457=)
12g.52447833C>GCA384981981KRT6Bc.1369G>C (p.Ala457Pro)
dbSNP gnomAD v2 gnomAD v4
12g.52447833C>TCA384981982KRT6Bc.1369G>A (p.Ala457Thr)
gnomAD v4
12g.52447834C>ACA480068912KRT6Bc.1368G>T (p.Leu456=)
12g.52447834C>GCA480068910KRT6Bc.1368G>C (p.Leu456=)
12g.52447834C>TCA480068911KRT6Bc.1368G>A (p.Leu456=)
12g.52447835A>CCA384981985KRT6Bc.1367T>G (p.Leu456Arg)
12g.52447835A>GCA384981987KRT6Bc.1367T>C (p.Leu456Pro)
12g.52447835A>TCA384981989KRT6Bc.1367T>A (p.Leu456Gln)
12g.52447836G>ACA480068913KRT6Bc.1366C>T (p.Leu456=)
dbSNP
12g.52447836G>CCA384981991KRT6Bc.1366C>G (p.Leu456Val)
12g.52447836G=CA2036494127KRT6Bc.1366C= (p.Leu456=)
12g.52447836G>TCA384981992KRT6Bc.1366C>A (p.Leu456Met)
12g.52447837C>ACA384981993KRT6Bc.1365G>T (p.Lys455Asn)
12g.52447837C=CA2036494132KRT6Bc.1365G= (p.Lys455=)
12g.52447837C>GCA384981994KRT6Bc.1365G>C (p.Lys455Asn)
12g.52447837C>TCA480068914KRT6Bc.1365G>A (p.Lys455=)
dbSNP gnomAD v2 gnomAD v4
12g.52447838T>ACA384981997KRT6Bc.1364A>T (p.Lys455Met)
dbSNP gnomAD v4
12g.52447838T>CCA384981999KRT6Bc.1364A>G (p.Lys455Arg)
gnomAD v4
12g.52447838T>GCA384982001KRT6Bc.1364A>C (p.Lys455Thr)
12g.52447838T=CA2036494137KRT6Bc.1364A= (p.Lys455=)
12g.52447839T>ACA384982005KRT6Bc.1363A>T (p.Lys455Ter)
12g.52447839T>CCA384982007KRT6Bc.1363A>G (p.Lys455Glu)
12g.52447839T>GCA384982004KRT6Bc.1363A>C (p.Lys455Gln)
12g.52447840G>ACA480068915KRT6Bc.1362C>T (p.Val454=)
dbSNP
12g.52447840G>CCA480068916KRT6Bc.1362C>G (p.Val454=)
12g.52447840G=CA2036494143KRT6Bc.1362C= (p.Val454=)
12g.52447840G>TCA480068917KRT6Bc.1362C>A (p.Val454=)
dbSNP gnomAD v4
12g.52447841A>CCA384982010KRT6Bc.1361T>G (p.Val454Gly)
12g.52447841A>GCA384982011KRT6Bc.1361T>C (p.Val454Ala)
12g.52447841A>TCA384982013KRT6Bc.1361T>A (p.Val454Asp)
12g.52447842C>ACA384982016KRT6Bc.1360G>T (p.Val454Phe)
12g.52447842C=CA2036494149KRT6Bc.1360G= (p.Val454=)
12g.52447842C>GCA384982019KRT6Bc.1360G>C (p.Val454Leu)
dbSNP gnomAD v3 gnomAD v4
12g.52447842C>TCA6580435KRT6Bc.1360G>A (p.Val454Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447843G>ACA6580436KRT6Bc.1359C>T (p.Asn453=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447843G>CCA384982024KRT6Bc.1359C>G (p.Asn453Lys)
dbSNP gnomAD v4
12g.52447843G=CA2036494154KRT6Bc.1359C= (p.Asn453=)
12g.52447843G>TCA384982026KRT6Bc.1359C>A (p.Asn453Lys)
ClinVar dbSNP gnomAD v4
12g.52447844T>ACA384982029KRT6Bc.1358A>T (p.Asn453Ile)
gnomAD v4
12g.52447844T>CCA384982033KRT6Bc.1358A>G (p.Asn453Ser)
gnomAD v4
12g.52447844T>GCA384982036KRT6Bc.1358A>C (p.Asn453Thr)
12g.52447845T>ACA384982043KRT6Bc.1357A>T (p.Asn453Tyr)
12g.52447845T>CCA384982038KRT6Bc.1357A>G (p.Asn453Asp)
12g.52447845T>GCA384982041KRT6Bc.1357A>C (p.Asn453His)
gnomAD v4
12g.52447846C>ACA384982045KRT6Bc.1356G>T (p.Met452Ile)
12g.52447846C>GCA384982047KRT6Bc.1356G>C (p.Met452Ile)
12g.52447846C>TCA384982049KRT6Bc.1356G>A (p.Met452Ile)
gnomAD v4
12g.52447847A=CA2036494163KRT6Bc.1355T= (p.Met452=)
12g.52447847A>CCA384982052KRT6Bc.1355T>G (p.Met452Arg)
12g.52447847A>GCA6580437KRT6Bc.1355T>C (p.Met452Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52447847A>TCA384982054KRT6Bc.1355T>A (p.Met452Lys)
gnomAD v4
12g.52447848T>ACA384982056KRT6Bc.1354A>T (p.Met452Leu)
gnomAD v4
12g.52447848T>CCA384982057KRT6Bc.1354A>G (p.Met452Val)
12g.52447848T>GCA384982058KRT6Bc.1354A>C (p.Met452Leu)
12g.52447849C>ACA480068918KRT6Bc.1353G>T (p.Leu451=)
12g.52447849C>GCA480068919KRT6Bc.1353G>C (p.Leu451=)
12g.52447849C>TCA480068920KRT6Bc.1353G>A (p.Leu451=)
12g.52447850A>CCA384982059KRT6Bc.1352T>G (p.Leu451Arg)
12g.52447850A>GCA384982061KRT6Bc.1352T>C (p.Leu451Pro)
12g.52447850A>TCA384982062KRT6Bc.1352T>A (p.Leu451Gln)
12g.52447851G>ACA480068921KRT6Bc.1351C>T (p.Leu451=)
12g.52447851G>CCA6580438KRT6Bc.1351C>G (p.Leu451Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447851G=CA2036494166KRT6Bc.1351C= (p.Leu451=)
12g.52447851G>TCA384982065KRT6Bc.1351C>A (p.Leu451Met)
12g.52447852C>ACA384982071KRT6Bc.1350G>T (p.Glu450Asp)
gnomAD v4
12g.52447852C>GCA384982073KRT6Bc.1350G>C (p.Glu450Asp)
12g.52447852C>TCA480068922KRT6Bc.1350G>A (p.Glu450=)
gnomAD v4
12g.52447853T>ACA384982075KRT6Bc.1349A>T (p.Glu450Val)
12g.52447853T>CCA384982082KRT6Bc.1349A>G (p.Glu450Gly)
12g.52447853T>GCA384982079KRT6Bc.1349A>C (p.Glu450Ala)
12g.52447854C>ACA384982086KRT6Bc.1348G>T (p.Glu450Ter)
12g.52447854C=CA2036494174KRT6Bc.1348G= (p.Glu450=)
12g.52447854C>GCA6580439KRT6Bc.1348G>C (p.Glu450Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52447854C>TCA384982091KRT6Bc.1348G>A (p.Glu450Lys)
12g.52447855C>ACA384982098KRT6Bc.1347G>T (p.Gln449His)
12g.52447855C>GCA384982101KRT6Bc.1347G>C (p.Gln449His)
12g.52447855C>TCA480068923KRT6Bc.1347G>A (p.Gln449=)
12g.52447856delCA2575164851KRT6Bc.1346del (p.Gln449ArgfsTer3)
12g.52447856T>ACA384982104KRT6Bc.1346A>T (p.Gln449Leu)
12g.52447856T>CCA237234018KRT6Bc.1346A>G (p.Gln449Arg)
dbSNP gnomAD v3 gnomAD v4
12g.52447856T>GCA384982118KRT6Bc.1346A>C (p.Gln449Pro)
12g.52447856T=CA2036494177KRT6Bc.1346A= (p.Gln449=)
12g.52447857G>ACA384982123KRT6Bc.1345C>T (p.Gln449Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52447857G>CCA384982126KRT6Bc.1345C>G (p.Gln449Glu)
12g.52447857G=CA2036494182KRT6Bc.1345C= (p.Gln449=)
12g.52447857G>TCA384982127KRT6Bc.1345C>A (p.Gln449Lys)
12g.52447858G>ACA480068924KRT6Bc.1344C>T (p.Tyr448=)
12g.52447858G>CCA384982131KRT6Bc.1344C>G (p.Tyr448Ter)
12g.52447858G>TCA384982133KRT6Bc.1344C>A (p.Tyr448Ter)
12g.52447859T>ACA384982135KRT6Bc.1343A>T (p.Tyr448Phe)
12g.52447859T>CCA384982140KRT6Bc.1343A>G (p.Tyr448Cys)
gnomAD v4
12g.52447859T>GCA384982137KRT6Bc.1343A>C (p.Tyr448Ser)
12g.52447860A>CCA384982144KRT6Bc.1342T>G (p.Tyr448Asp)
12g.52447860A>GCA384982147KRT6Bc.1342T>C (p.Tyr448His)
12g.52447860A>TCA384982150KRT6Bc.1342T>A (p.Tyr448Asn)
12g.52447861C>ACA384982153KRT6Bc.1341G>T (p.Glu447Asp)
12g.52447861C=CA2036494183KRT6Bc.1341G= (p.Glu447=)
12g.52447861C>GCA6580440KRT6Bc.1341G>C (p.Glu447Asp)
dbSNP ExAC gnomAD v2
12g.52447861C>TCA480068925KRT6Bc.1341G>A (p.Glu447=)
dbSNP gnomAD v3 gnomAD v4
12g.52447862T>ACA384982159KRT6Bc.1340A>T (p.Glu447Val)
12g.52447862T>CCA384982161KRT6Bc.1340A>G (p.Glu447Gly)
12g.52447862T>GCA384982164KRT6Bc.1340A>C (p.Glu447Ala)
12g.52447863C>ACA384982166KRT6Bc.1339G>T (p.Glu447Ter)
12g.52447863C>GCA384982168KRT6Bc.1339G>C (p.Glu447Gln)
12g.52447863C>TCA384982171KRT6Bc.1339G>A (p.Glu447Lys)
12g.52447864C>ACA384982175KRT6Bc.1338G>T (p.Lys446Asn)
12g.52447864C>GCA384982176KRT6Bc.1338G>C (p.Lys446Asn)
12g.52447864C>TCA480068926KRT6Bc.1338G>A (p.Lys446=)
12g.52447865T>ACA384982180KRT6Bc.1337A>T (p.Lys446Met)
12g.52447865T>CCA384982181KRT6Bc.1337A>G (p.Lys446Arg)
12g.52447865T>GCA384982183KRT6Bc.1337A>C (p.Lys446Thr)

Number of alleles fetched