Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22133537_22133546delCA2568789291PHEXn.991_1000del
c.1317_1326del (p.Glu440AlafsTer8)
c.561_570del (p.Glu188AlafsTer8)
c.210_219del (p.Glu71AlafsTer8)
c.1026_1035del (p.Glu343AlafsTer8)
n.1996_2005del
Xg.22133542G>ACA412574572PHEXn.996G>A
c.1322G>A (p.Gly441Asp)
c.566G>A (p.Gly189Asp)
c.215G>A (p.Gly72Asp)
c.1031G>A (p.Gly344Asp)
n.2001G>A
 dbSNP
Xg.22133542G>CCA412574573PHEXn.996G>C
c.1322G>C (p.Gly441Ala)
c.566G>C (p.Gly189Ala)
c.215G>C (p.Gly72Ala)
c.1031G>C (p.Gly344Ala)
n.2001G>C
Xg.22133542G=CA2419181310PHEXn.996G=
c.1322G= (p.Gly441=)
c.566G= (p.Gly189=)
c.215G= (p.Gly72=)
c.1031G= (p.Gly344=)
n.2001G=
Xg.22133542G>TCA412574574PHEXn.996G>T
c.1322G>T (p.Gly441Val)
c.566G>T (p.Gly189Val)
c.215G>T (p.Gly72Val)
c.1031G>T (p.Gly344Val)
n.2001G>T
Xg.22133543C>ACA515427388PHEXn.997C>A
c.1323C>A (p.Gly441=)
c.567C>A (p.Gly189=)
c.216C>A (p.Gly72=)
c.1032C>A (p.Gly344=)
n.2002C>A
Xg.22133543C=CA2419181311PHEXn.997C=
c.1323C= (p.Gly441=)
c.567C= (p.Gly189=)
c.216C= (p.Gly72=)
c.1032C= (p.Gly344=)
n.2002C=
Xg.22133543C>GCA515427389PHEXn.997C>G
c.1323C>G (p.Gly441=)
c.567C>G (p.Gly189=)
c.216C>G (p.Gly72=)
c.1032C>G (p.Gly344=)
n.2002C>G
Xg.22133543C>TCA10368223PHEXn.997C>T
c.1323C>T (p.Gly441=)
c.567C>T (p.Gly189=)
c.216C>T (p.Gly72=)
c.1032C>T (p.Gly344=)
n.2002C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.22133543_22133544delinsCGCA2419181312PHEXn.997_998delinsCG
c.1323_1324delinsCG (p.Gly441=)
c.567_568delinsCG (p.Gly189=)
c.216_217delinsCG (p.Gly72=)
c.1032_1033delinsCG (p.Gly344=)
n.2002_2003delinsCG
Xg.22133544delCA915950854PHEXn.998del
c.1324del (p.Val442PhefsTer9)
c.568del (p.Val190PhefsTer9)
c.217del (p.Val73PhefsTer9)
c.1033del (p.Val345PhefsTer9)
n.2003del
 ClinVar dbSNP
Xg.22133544G>ACA10368224PHEXn.998G>A
c.1324G>A (p.Val442Ile)
c.568G>A (p.Val190Ile)
c.217G>A (p.Val73Ile)
c.1033G>A (p.Val345Ile)
n.2003G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.22133544G>CCA412574575PHEXn.998G>C
c.1324G>C (p.Val442Leu)
c.568G>C (p.Val190Leu)
c.217G>C (p.Val73Leu)
c.1033G>C (p.Val345Leu)
n.2003G>C
Xg.22133544G=CA2419181313PHEXn.998G=
c.1324G= (p.Val442=)
c.568G= (p.Val190=)
c.217G= (p.Val73=)
c.1033G= (p.Val345=)
n.2003G=
Xg.22133544G>TCA412574576PHEXn.998G>T
c.1324G>T (p.Val442Phe)
c.568G>T (p.Val190Phe)
c.217G>T (p.Val73Phe)
c.1033G>T (p.Val345Phe)
n.2003G>T
 ClinVar dbSNP
Xg.22133545T>ACA412574577PHEXn.999T>A
c.1325T>A (p.Val442Asp)
c.569T>A (p.Val190Asp)
c.218T>A (p.Val73Asp)
c.1034T>A (p.Val345Asp)
n.2004T>A
 ClinVar
Xg.22133545T>CCA412574578PHEXn.999T>C
c.1325T>C (p.Val442Ala)
c.569T>C (p.Val190Ala)
c.218T>C (p.Val73Ala)
c.1034T>C (p.Val345Ala)
n.2004T>C
Xg.22133545T>GCA412574579PHEXn.999T>G
c.1325T>G (p.Val442Gly)
c.569T>G (p.Val190Gly)
c.218T>G (p.Val73Gly)
c.1034T>G (p.Val345Gly)
n.2004T>G
Xg.22133545_22133546insCCCACCCCA2573158527PHEXn.999_1000insCCCACCC
c.1325_1326insCCCACCC (p.Arg443ProfsTer8)
c.569_570insCCCACCC (p.Arg191ProfsTer8)
c.218_219insCCCACCC (p.Arg74ProfsTer8)
c.1034_1035insCCCACCC (p.Arg346ProfsTer8)
n.2004_2005insCCCACCC
 ClinVar dbSNP
Xg.22133546T>ACA515427390PHEXn.1000T>A
c.1326T>A (p.Val442=)
c.570T>A (p.Val190=)
c.219T>A (p.Val73=)
c.1035T>A (p.Val345=)
n.2005T>A
Xg.22133546T>CCA515427391PHEXn.1000T>C
c.1326T>C (p.Val442=)
c.570T>C (p.Val190=)
c.219T>C (p.Val73=)
c.1035T>C (p.Val345=)
n.2005T>C
Xg.22133546T>GCA515427392PHEXn.1000T>G
c.1326T>G (p.Val442=)
c.570T>G (p.Val190=)
c.219T>G (p.Val73=)
c.1035T>G (p.Val345=)
n.2005T>G
Xg.22133547C>ACA412574580PHEXn.1001C>A
c.1327C>A (p.Arg443Ser)
c.571C>A (p.Arg191Ser)
c.220C>A (p.Arg74Ser)
c.1036C>A (p.Arg346Ser)
n.2006C>A
Xg.22133547C=CA2419181314PHEXn.1001C=
c.1327C= (p.Arg443=)
c.571C= (p.Arg191=)
c.220C= (p.Arg74=)
c.1036C= (p.Arg346=)
n.2006C=
Xg.22133547C>GCA412574581PHEXn.1001C>G
c.1327C>G (p.Arg443Gly)
c.571C>G (p.Arg191Gly)
c.220C>G (p.Arg74Gly)
c.1036C>G (p.Arg346Gly)
n.2006C>G
Xg.22133547C>TCA327525251PHEXn.1001C>T
c.1327C>T (p.Arg443Cys)
c.571C>T (p.Arg191Cys)
c.220C>T (p.Arg74Cys)
c.1036C>T (p.Arg346Cys)
n.2006C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.22133548G>ACA412574582PHEXn.1002G>A
c.1328G>A (p.Arg443His)
c.572G>A (p.Arg191His)
c.221G>A (p.Arg74His)
c.1037G>A (p.Arg346His)
n.2007G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.22133548G>CCA412574583PHEXn.1002G>C
c.1328G>C (p.Arg443Pro)
c.572G>C (p.Arg191Pro)
c.221G>C (p.Arg74Pro)
c.1037G>C (p.Arg346Pro)
n.2007G>C
 ClinVar dbSNP
Xg.22133548G=CA2419181315PHEXn.1002G=
c.1328G= (p.Arg443=)
c.572G= (p.Arg191=)
c.221G= (p.Arg74=)
c.1037G= (p.Arg346=)
n.2007G=
Xg.22133548G>TCA412574584PHEXn.1002G>T
c.1328G>T (p.Arg443Leu)
c.572G>T (p.Arg191Leu)
c.221G>T (p.Arg74Leu)
c.1037G>T (p.Arg346Leu)
n.2007G>T
Xg.22133549C>ACA515427393PHEXn.1003C>A
c.1329C>A (p.Arg443=)
c.573C>A (p.Arg191=)
c.222C>A (p.Arg74=)
c.1038C>A (p.Arg346=)
n.2008C>A
Xg.22133549C>GCA515427395PHEXn.1003C>G
c.1329C>G (p.Arg443=)
c.573C>G (p.Arg191=)
c.222C>G (p.Arg74=)
c.1038C>G (p.Arg346=)
n.2008C>G
Xg.22133549C>TCA515427394PHEXn.1003C>T
c.1329C>T (p.Arg443=)
c.573C>T (p.Arg191=)
c.222C>T (p.Arg74=)
c.1038C>T (p.Arg346=)
n.2008C>T
Xg.22133550T>ACA412574585PHEXn.1004T>A
c.1330T>A (p.Trp444Arg)
c.574T>A (p.Trp192Arg)
c.223T>A (p.Trp75Arg)
c.1039T>A (p.Trp347Arg)
n.2009T>A
Xg.22133550T>CCA412574586PHEXn.1004T>C
c.1330T>C (p.Trp444Arg)
c.574T>C (p.Trp192Arg)
c.223T>C (p.Trp75Arg)
c.1039T>C (p.Trp347Arg)
n.2009T>C
Xg.22133550T>GCA412574587PHEXn.1004T>G
c.1330T>G (p.Trp444Gly)
c.574T>G (p.Trp192Gly)
c.223T>G (p.Trp75Gly)
c.1039T>G (p.Trp347Gly)
n.2009T>G
Xg.22133551G>ACA412574590PHEXn.1005G>A
c.1331G>A (p.Trp444Ter)
c.575G>A (p.Trp192Ter)
c.224G>A (p.Trp75Ter)
c.1040G>A (p.Trp347Ter)
n.2010G>A
 ClinVar dbSNP
Xg.22133551G>CCA412574589PHEXn.1005G>C
c.1331G>C (p.Trp444Ser)
c.575G>C (p.Trp192Ser)
c.224G>C (p.Trp75Ser)
c.1040G>C (p.Trp347Ser)
n.2010G>C
Xg.22133551G>TCA412574588PHEXn.1005G>T
c.1331G>T (p.Trp444Leu)
c.575G>T (p.Trp192Leu)
c.224G>T (p.Trp75Leu)
c.1040G>T (p.Trp347Leu)
n.2010G>T
Xg.22133553delCA2579572200PHEXn.1007del
c.1333del (p.Ala445ProfsTer6)
c.577del (p.Ala193ProfsTer6)
c.226del (p.Ala76ProfsTer6)
c.1042del (p.Ala348ProfsTer6)
n.2012del
Xg.22133551_22133552insAACCA2695231781PHEXn.1005_1006insAAC
c.1331_1332insAAC (p.Trp444Ter)
c.575_576insAAC (p.Trp192Ter)
c.224_225insAAC (p.Trp75Ter)
c.1040_1041insAAC (p.Trp347Ter)
n.2010_2011insAAC
Xg.22133551_22133552insTATCATTAAAAAACA2554418842PHEXn.1005_1006insTATCATTAAAAAA
c.1331_1332insTATCATTAAAAAA (p.Trp444CysfsTer9)
c.575_576insTATCATTAAAAAA (p.Trp192CysfsTer9)
c.224_225insTATCATTAAAAAA (p.Trp75CysfsTer9)
c.1040_1041insTATCATTAAAAAA (p.Trp347CysfsTer9)
n.2010_2011insTATCATTAAAAAA
Xg.22133552G>ACA412574591PHEXn.1006G>A
c.1332G>A (p.Trp444Ter)
c.576G>A (p.Trp192Ter)
c.225G>A (p.Trp75Ter)
c.1041G>A (p.Trp347Ter)
n.2011G>A
 ClinVar dbSNP
Xg.22133552G>CCA412574592PHEXn.1006G>C
c.1332G>C (p.Trp444Cys)
c.576G>C (p.Trp192Cys)
c.225G>C (p.Trp75Cys)
c.1041G>C (p.Trp347Cys)
n.2011G>C
Xg.22133552G>TCA412574593PHEXn.1006G>T
c.1332G>T (p.Trp444Cys)
c.576G>T (p.Trp192Cys)
c.225G>T (p.Trp75Cys)
c.1041G>T (p.Trp347Cys)
n.2011G>T
 COSMIC
Xg.22133553G>ACA412574594PHEXn.1007G>A
c.1333G>A (p.Ala445Thr)
c.577G>A (p.Ala193Thr)
c.226G>A (p.Ala76Thr)
c.1042G>A (p.Ala348Thr)
n.2012G>A
Xg.22133553G>CCA412574595PHEXn.1007G>C
c.1333G>C (p.Ala445Pro)
c.577G>C (p.Ala193Pro)
c.226G>C (p.Ala76Pro)
c.1042G>C (p.Ala348Pro)
n.2012G>C
Xg.22133553G>TCA412574596PHEXn.1007G>T
c.1333G>T (p.Ala445Ser)
c.577G>T (p.Ala193Ser)
c.226G>T (p.Ala76Ser)
c.1042G>T (p.Ala348Ser)
n.2012G>T
Xg.22133553_22133554delinsGCCA2419181316PHEXn.1007_1008delinsGC
c.1333_1334delinsGC (p.Ala445=)
c.577_578delinsGC (p.Ala193=)
c.226_227delinsGC (p.Ala76=)
c.1042_1043delinsGC (p.Ala348=)
n.2012_2013delinsGC
Xg.22133554C>ACA412574597PHEXn.1008C>A
c.1334C>A (p.Ala445Asp)
c.578C>A (p.Ala193Asp)
c.227C>A (p.Ala76Asp)
c.1043C>A (p.Ala348Asp)
n.2013C>A
 ClinVar dbSNP gnomAD v4

Number of alleles fetched