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.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
Xg.22133554C>GCA412574598PHEXn.1008C>G
c.1334C>G (p.Ala445Gly)
c.578C>G (p.Ala193Gly)
c.227C>G (p.Ala76Gly)
c.1043C>G (p.Ala348Gly)
n.2013C>G
Xg.22133554C>TCA412574599PHEXn.1008C>T
c.1334C>T (p.Ala445Val)
c.578C>T (p.Ala193Val)
c.227C>T (p.Ala76Val)
c.1043C>T (p.Ala348Val)
n.2013C>T
Xg.22133555delCA1139667296PHEXn.1009del
c.1335del (p.Phe446LeufsTer5)
c.579del (p.Phe194LeufsTer5)
c.228del (p.Phe77LeufsTer5)
c.1044del (p.Phe349LeufsTer5)
n.2014del
 ClinVar dbSNP
Xg.22133555C>ACA327525252PHEXn.1009C>A
c.1335C>A (p.Ala445=)
c.579C>A (p.Ala193=)
c.228C>A (p.Ala76=)
c.1044C>A (p.Ala348=)
n.2014C>A
 ClinVar dbSNP
Xg.22133555C=CA2419181317PHEXn.1009C=
c.1335C= (p.Ala445=)
c.579C= (p.Ala193=)
c.228C= (p.Ala76=)
c.1044C= (p.Ala348=)
n.2014C=
Xg.22133555C>GCA515427396PHEXn.1009C>G
c.1335C>G (p.Ala445=)
c.579C>G (p.Ala193=)
c.228C>G (p.Ala76=)
c.1044C>G (p.Ala348=)
n.2014C>G
Xg.22133555C>TCA515427397PHEXn.1009C>T
c.1335C>T (p.Ala445=)
c.579C>T (p.Ala193=)
c.228C>T (p.Ala76=)
c.1044C>T (p.Ala348=)
n.2014C>T
Xg.22133556T>ACA412574600PHEXn.1010T>A
c.1336T>A (p.Phe446Ile)
c.580T>A (p.Phe194Ile)
c.229T>A (p.Phe77Ile)
c.1045T>A (p.Phe349Ile)
n.2015T>A
Xg.22133556T>CCA412574601PHEXn.1010T>C
c.1336T>C (p.Phe446Leu)
c.580T>C (p.Phe194Leu)
c.229T>C (p.Phe77Leu)
c.1045T>C (p.Phe349Leu)
n.2015T>C
Xg.22133556T>GCA412574602PHEXn.1010T>G
c.1336T>G (p.Phe446Val)
c.580T>G (p.Phe194Val)
c.229T>G (p.Phe77Val)
c.1045T>G (p.Phe349Val)
n.2015T>G
Xg.22133558delCA2693306108PHEXn.1012del
c.1338del (p.Phe446LeufsTer5)
c.582del (p.Phe194LeufsTer5)
c.231del (p.Phe77LeufsTer5)
c.1047del (p.Phe349LeufsTer5)
n.2017del
 gnomAD v4
Xg.22133556_22133557insAATACA2573055214PHEXn.1010_1011insAATA
c.1336_1337insAATA (p.Phe446Ter)
c.580_581insAATA (p.Phe194Ter)
c.229_230insAATA (p.Phe77Ter)
c.1045_1046insAATA (p.Phe349Ter)
n.2015_2016insAATA
 ClinVar dbSNP
Xg.22133557T>ACA412574603PHEXn.1011T>A
c.1337T>A (p.Phe446Tyr)
c.581T>A (p.Phe194Tyr)
c.230T>A (p.Phe77Tyr)
c.1046T>A (p.Phe349Tyr)
n.2016T>A
Xg.22133557T>CCA412574605PHEXn.1011T>C
c.1337T>C (p.Phe446Ser)
c.581T>C (p.Phe194Ser)
c.230T>C (p.Phe77Ser)
c.1046T>C (p.Phe349Ser)
n.2016T>C
Xg.22133557T>GCA412574604PHEXn.1011T>G
c.1337T>G (p.Phe446Cys)
c.581T>G (p.Phe194Cys)
c.230T>G (p.Phe77Cys)
c.1046T>G (p.Phe349Cys)
n.2016T>G
Xg.22133557delinsAATAACA2695231782PHEXn.1011delinsAATAA
c.1337delinsAATAA (p.Phe446Ter)
c.581delinsAATAA (p.Phe194Ter)
c.230delinsAATAA (p.Phe77Ter)
c.1046delinsAATAA (p.Phe349Ter)
n.2016delinsAATAA
Xg.22133558T>ACA412574606PHEXn.1012T>A
c.1338T>A (p.Phe446Leu)
c.582T>A (p.Phe194Leu)
c.231T>A (p.Phe77Leu)
c.1047T>A (p.Phe349Leu)
n.2017T>A
Xg.22133558T>CCA515427398PHEXn.1012T>C
c.1338T>C (p.Phe446=)
c.582T>C (p.Phe194=)
c.231T>C (p.Phe77=)
c.1047T>C (p.Phe349=)
n.2017T>C
Xg.22133558T>GCA412574607PHEXn.1012T>G
c.1338T>G (p.Phe446Leu)
c.582T>G (p.Phe194Leu)
c.231T>G (p.Phe77Leu)
c.1047T>G (p.Phe349Leu)
n.2017T>G
Xg.22133559A>CCA412574608PHEXn.1013A>C
c.1339A>C (p.Ile447Leu)
c.583A>C (p.Ile195Leu)
c.232A>C (p.Ile78Leu)
c.1048A>C (p.Ile350Leu)
n.2018A>C
Xg.22133559A>GCA412574609PHEXn.1013A>G
c.1339A>G (p.Ile447Val)
c.583A>G (p.Ile195Val)
c.232A>G (p.Ile78Val)
c.1048A>G (p.Ile350Val)
n.2018A>G
Xg.22133559A>TCA412574610PHEXn.1013A>T
c.1339A>T (p.Ile447Phe)
c.583A>T (p.Ile195Phe)
c.232A>T (p.Ile78Phe)
c.1048A>T (p.Ile350Phe)
n.2018A>T
Xg.22133560T>ACA412574611PHEXn.1014T>A
c.1340T>A (p.Ile447Asn)
c.584T>A (p.Ile195Asn)
c.233T>A (p.Ile78Asn)
c.1049T>A (p.Ile350Asn)
n.2019T>A
Xg.22133560T>CCA412574612PHEXn.1014T>C
c.1340T>C (p.Ile447Thr)
c.584T>C (p.Ile195Thr)
c.233T>C (p.Ile78Thr)
c.1049T>C (p.Ile350Thr)
n.2019T>C
 dbSNP gnomAD v4
Xg.22133560T>GCA412574613PHEXn.1014T>G
c.1340T>G (p.Ile447Ser)
c.584T>G (p.Ile195Ser)
c.233T>G (p.Ile78Ser)
c.1049T>G (p.Ile350Ser)
n.2019T>G
Xg.22133560T=CA2419181318PHEXn.1014T=
c.1340T= (p.Ile447=)
c.584T= (p.Ile195=)
c.233T= (p.Ile78=)
c.1049T= (p.Ile350=)
n.2019T=
Xg.22133561T>ACA515427399PHEXn.1015T>A
c.1341T>A (p.Ile447=)
c.585T>A (p.Ile195=)
c.234T>A (p.Ile78=)
c.1050T>A (p.Ile350=)
n.2020T>A
Xg.22133561T>CCA515427400PHEXn.1015T>C
c.1341T>C (p.Ile447=)
c.585T>C (p.Ile195=)
c.234T>C (p.Ile78=)
c.1050T>C (p.Ile350=)
n.2020T>C
Xg.22133561T>GCA412574614PHEXn.1015T>G
c.1341T>G (p.Ile447Met)
c.585T>G (p.Ile195Met)
c.234T>G (p.Ile78Met)
c.1050T>G (p.Ile350Met)
n.2020T>G
Xg.22133562G>ACA412574615PHEXn.1016G>A
c.1342G>A (p.Asp448Asn)
c.586G>A (p.Asp196Asn)
c.235G>A (p.Asp79Asn)
c.1051G>A (p.Asp351Asn)
n.2021G>A
Xg.22133562G>CCA412574616PHEXn.1016G>C
c.1342G>C (p.Asp448His)
c.586G>C (p.Asp196His)
c.235G>C (p.Asp79His)
c.1051G>C (p.Asp351His)
n.2021G>C
Xg.22133562G>TCA412574617PHEXn.1016G>T
c.1342G>T (p.Asp448Tyr)
c.586G>T (p.Asp196Tyr)
c.235G>T (p.Asp79Tyr)
c.1051G>T (p.Asp351Tyr)
n.2021G>T
Xg.22133563A>CCA412574618PHEXn.1017A>C
c.1343A>C (p.Asp448Ala)
c.587A>C (p.Asp196Ala)
c.236A>C (p.Asp79Ala)
c.1052A>C (p.Asp351Ala)
n.2022A>C
Xg.22133563A>GCA412574619PHEXn.1017A>G
c.1343A>G (p.Asp448Gly)
c.587A>G (p.Asp196Gly)
c.236A>G (p.Asp79Gly)
c.1052A>G (p.Asp351Gly)
n.2022A>G
 COSMIC COSMIC
Xg.22133563A>TCA412574620PHEXn.1017A>T
c.1343A>T (p.Asp448Val)
c.587A>T (p.Asp196Val)
c.236A>T (p.Asp79Val)
c.1052A>T (p.Asp351Val)
n.2022A>T
Xg.22133564delCA2739268139PHEXn.1018del
c.1344del (p.Asp448GlufsTer3)
c.588del (p.Asp196GlufsTer3)
c.237del (p.Asp79GlufsTer3)
c.1053del (p.Asp351GlufsTer3)
n.2023del
 ClinVar
Xg.22133564C>ACA412574622PHEXn.1018C>A
c.1344C>A (p.Asp448Glu)
c.588C>A (p.Asp196Glu)
c.237C>A (p.Asp79Glu)
c.1053C>A (p.Asp351Glu)
n.2023C>A
Xg.22133564C=CA2419181319PHEXn.1018C=
c.1344C= (p.Asp448=)
c.588C= (p.Asp196=)
c.237C= (p.Asp79=)
c.1053C= (p.Asp351=)
n.2023C=
Xg.22133564C>GCA412574621PHEXn.1018C>G
c.1344C>G (p.Asp448Glu)
c.588C>G (p.Asp196Glu)
c.237C>G (p.Asp79Glu)
c.1053C>G (p.Asp351Glu)
n.2023C>G
Xg.22133564C>TCA10368225PHEXn.1018C>T
c.1344C>T (p.Asp448=)
c.588C>T (p.Asp196=)
c.237C>T (p.Asp79=)
c.1053C>T (p.Asp351=)
n.2023C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22133565delCA2739268140PHEXn.1019del
c.1345del (p.Met449CysfsTer2)
c.589del (p.Met197CysfsTer2)
c.238del (p.Met80CysfsTer2)
c.1054del (p.Met352CysfsTer2)
n.2024del
 ClinVar
Xg.22133565A>CCA412574623PHEXn.1019A>C
c.1345A>C (p.Met449Leu)
c.589A>C (p.Met197Leu)
c.238A>C (p.Met80Leu)
c.1054A>C (p.Met352Leu)
n.2024A>C
Xg.22133565A>GCA412574624PHEXn.1019A>G
c.1345A>G (p.Met449Val)
c.589A>G (p.Met197Val)
c.238A>G (p.Met80Val)
c.1054A>G (p.Met352Val)
n.2024A>G
Xg.22133565A>TCA412574625PHEXn.1019A>T
c.1345A>T (p.Met449Leu)
c.589A>T (p.Met197Leu)
c.238A>T (p.Met80Leu)
c.1054A>T (p.Met352Leu)
n.2024A>T
Xg.22133566T>ACA412574626PHEXn.1020T>A
c.1346T>A (p.Met449Lys)
c.590T>A (p.Met197Lys)
c.239T>A (p.Met80Lys)
c.1055T>A (p.Met352Lys)
n.2025T>A
Xg.22133566T>CCA412574627PHEXn.1020T>C
c.1346T>C (p.Met449Thr)
c.590T>C (p.Met197Thr)
c.239T>C (p.Met80Thr)
c.1055T>C (p.Met352Thr)
n.2025T>C
Xg.22133566T>GCA412574628PHEXn.1020T>G
c.1346T>G (p.Met449Arg)
c.590T>G (p.Met197Arg)
c.239T>G (p.Met80Arg)
c.1055T>G (p.Met352Arg)
n.2025T>G
Xg.22133567G>ACA412574629PHEXn.1021G>A
c.1347G>A (p.Met449Ile)
c.591G>A (p.Met197Ile)
c.240G>A (p.Met80Ile)
c.1056G>A (p.Met352Ile)
n.2026G>A
 ClinVar
Xg.22133567G>CCA412574630PHEXn.1021G>C
c.1347G>C (p.Met449Ile)
c.591G>C (p.Met197Ile)
c.240G>C (p.Met80Ile)
c.1056G>C (p.Met352Ile)
n.2026G>C
Xg.22133567G>TCA412574631PHEXn.1021G>T
c.1347G>T (p.Met449Ile)
c.591G>T (p.Met197Ile)
c.240G>T (p.Met80Ile)
c.1056G>T (p.Met352Ile)
n.2026G>T
 gnomAD v4
Xg.22133568C>ACA412574632PHEXn.1022C>A
c.1348C>A (p.Leu450Ile)
c.592C>A (p.Leu198Ile)
c.241C>A (p.Leu81Ile)
c.1057C>A (p.Leu353Ile)
n.2027C>A
Xg.22133568C>GCA412574633PHEXn.1022C>G
c.1348C>G (p.Leu450Val)
c.592C>G (p.Leu198Val)
c.241C>G (p.Leu81Val)
c.1057C>G (p.Leu353Val)
n.2027C>G
Xg.22133568C>TCA515427402PHEXn.1022C>T
c.1348C>T (p.Leu450=)
c.592C>T (p.Leu198=)
c.241C>T (p.Leu81=)
c.1057C>T (p.Leu353=)
n.2027C>T
Xg.22133569T>ACA412574636PHEXn.1023T>A
c.1349T>A (p.Leu450Gln)
c.593T>A (p.Leu198Gln)
c.242T>A (p.Leu81Gln)
c.1058T>A (p.Leu353Gln)
n.2028T>A
Xg.22133569T>CCA412574635PHEXn.1023T>C
c.1349T>C (p.Leu450Pro)
c.593T>C (p.Leu198Pro)
c.242T>C (p.Leu81Pro)
c.1058T>C (p.Leu353Pro)
n.2028T>C
Xg.22133569T>GCA412574634PHEXn.1023T>G
c.1349T>G (p.Leu450Arg)
c.593T>G (p.Leu198Arg)
c.242T>G (p.Leu81Arg)
c.1058T>G (p.Leu353Arg)
n.2028T>G
Xg.22133570A=CA2419181320PHEXn.1024A=
c.1350A= (p.Leu450=)
c.594A= (p.Leu198=)
c.243A= (p.Leu81=)
c.1059A= (p.Leu353=)
n.2029A=
Xg.22133570A>CCA515427403PHEXn.1024A>C
c.1350A>C (p.Leu450=)
c.594A>C (p.Leu198=)
c.243A>C (p.Leu81=)
c.1059A>C (p.Leu353=)
n.2029A>C
Xg.22133570A>GCA515427404PHEXn.1024A>G
c.1350A>G (p.Leu450=)
c.594A>G (p.Leu198=)
c.243A>G (p.Leu81=)
c.1059A>G (p.Leu353=)
n.2029A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.22133570A>TCA515427405PHEXn.1024A>T
c.1350A>T (p.Leu450=)
c.594A>T (p.Leu198=)
c.243A>T (p.Leu81=)
c.1059A>T (p.Leu353=)
n.2029A>T
Xg.22133571G>ACA412574637PHEXn.1025G>A
c.1351G>A (p.Glu451Lys)
c.595G>A (p.Glu199Lys)
c.244G>A (p.Glu82Lys)
c.1060G>A (p.Glu354Lys)
n.2030G>A
 dbSNP
Xg.22133571G>CCA412574638PHEXn.1025G>C
c.1351G>C (p.Glu451Gln)
c.595G>C (p.Glu199Gln)
c.244G>C (p.Glu82Gln)
c.1060G>C (p.Glu354Gln)
n.2030G>C
Xg.22133571G>TCA412574639PHEXn.1025G>T
c.1351G>T (p.Glu451Ter)
c.595G>T (p.Glu199Ter)
c.244G>T (p.Glu82Ter)
c.1060G>T (p.Glu354Ter)
n.2030G>T
Xg.22133572A>CCA412574640PHEXn.1026A>C
c.1352A>C (p.Glu451Ala)
c.596A>C (p.Glu199Ala)
c.245A>C (p.Glu82Ala)
c.1061A>C (p.Glu354Ala)
n.2031A>C
Xg.22133572A>GCA412574641PHEXn.1026A>G
c.1352A>G (p.Glu451Gly)
c.596A>G (p.Glu199Gly)
c.245A>G (p.Glu82Gly)
c.1061A>G (p.Glu354Gly)
n.2031A>G
 gnomAD v4
Xg.22133572A>TCA412574642PHEXn.1026A>T
c.1352A>T (p.Glu451Val)
c.596A>T (p.Glu199Val)
c.245A>T (p.Glu82Val)
c.1061A>T (p.Glu354Val)
n.2031A>T
Xg.22133577_22133580delCA2695231783PHEXn.1031_1034del
c.1357_1360del (p.Glu453MetfsTer29)
c.601_604del (p.Glu201MetfsTer29)
c.1357_1360del (p.Glu453MetfsTer19)
c.250_253del (p.Glu84MetfsTer29)
c.1066_1069del (p.Glu356MetfsTer29)
n.2036_2039del
Xg.22133573G>ACA515427406PHEXn.1027G>A
c.1353G>A (p.Glu451=)
c.597G>A (p.Glu199=)
c.246G>A (p.Glu82=)
c.1062G>A (p.Glu354=)
n.2032G>A
Xg.22133573G>CCA412574643PHEXn.1027G>C
c.1353G>C (p.Glu451Asp)
c.597G>C (p.Glu199Asp)
c.246G>C (p.Glu82Asp)
c.1062G>C (p.Glu354Asp)
n.2032G>C
Xg.22133573G>TCA412574644PHEXn.1027G>T
c.1353G>T (p.Glu451Asp)
c.597G>T (p.Glu199Asp)
c.246G>T (p.Glu82Asp)
c.1062G>T (p.Glu354Asp)
n.2032G>T
Xg.22133574A>CCA412574645PHEXn.1028A>C
c.1354A>C (p.Lys452Gln)
c.598A>C (p.Lys200Gln)
c.247A>C (p.Lys83Gln)
c.1063A>C (p.Lys355Gln)
n.2033A>C
 gnomAD v4
Xg.22133574A>GCA412574646PHEXn.1028A>G
c.1354A>G (p.Lys452Glu)
c.598A>G (p.Lys200Glu)
c.247A>G (p.Lys83Glu)
c.1063A>G (p.Lys355Glu)
n.2033A>G
 COSMIC COSMIC
Xg.22133574A>TCA412574647PHEXn.1028A>T
c.1354A>T (p.Lys452Ter)
c.598A>T (p.Lys200Ter)
c.247A>T (p.Lys83Ter)
c.1063A>T (p.Lys355Ter)
n.2033A>T
Xg.22133575A>CCA412574648PHEXn.1029A>C
c.1355A>C (p.Lys452Thr)
c.599A>C (p.Lys200Thr)
c.248A>C (p.Lys83Thr)
c.1064A>C (p.Lys355Thr)
n.2034A>C
Xg.22133575A>GCA412574649PHEXn.1029A>G
c.1355A>G (p.Lys452Arg)
c.599A>G (p.Lys200Arg)
c.248A>G (p.Lys83Arg)
c.1064A>G (p.Lys355Arg)
n.2034A>G
Xg.22133575A>TCA412574650PHEXn.1029A>T
c.1355A>T (p.Lys452Ile)
c.599A>T (p.Lys200Ile)
c.248A>T (p.Lys83Ile)
c.1064A>T (p.Lys355Ile)
n.2034A>T
Xg.22133576A>CCA412574651PHEXn.1030A>C
c.1356A>C (p.Lys452Asn)
c.600A>C (p.Lys200Asn)
c.249A>C (p.Lys83Asn)
c.1065A>C (p.Lys355Asn)
n.2035A>C
Xg.22133576A>GCA515427407PHEXn.1030A>G
c.1356A>G (p.Lys452=)
c.600A>G (p.Lys200=)
c.249A>G (p.Lys83=)
c.1065A>G (p.Lys355=)
n.2035A>G
Xg.22133576A>TCA412574652PHEXn.1030A>T
c.1356A>T (p.Lys452Asn)
c.600A>T (p.Lys200Asn)
c.249A>T (p.Lys83Asn)
c.1065A>T (p.Lys355Asn)
n.2035A>T
Xg.22133577_22133578delCA2580100462PHEXn.1031_1032del
c.1357_1358del (p.Glu453LysfsTer2)
c.601_602del (p.Glu201LysfsTer2)
c.250_251del (p.Glu84LysfsTer2)
c.1066_1067del (p.Glu356LysfsTer2)
n.2036_2037del
 ClinVar
Xg.22133577G>ACA412574653PHEXn.1031G>A
c.1357G>A (p.Glu453Lys)
c.601G>A (p.Glu201Lys)
c.250G>A (p.Glu84Lys)
c.1066G>A (p.Glu356Lys)
n.2036G>A
Xg.22133577G>CCA412574654PHEXn.1031G>C
c.1357G>C (p.Glu453Gln)
c.601G>C (p.Glu201Gln)
c.250G>C (p.Glu84Gln)
c.1066G>C (p.Glu356Gln)
n.2036G>C
Xg.22133577G>TCA412574655PHEXn.1031G>T
c.1357G>T (p.Glu453Ter)
c.601G>T (p.Glu201Ter)
c.250G>T (p.Glu84Ter)
c.1066G>T (p.Glu356Ter)
n.2036G>T
Xg.22133578A>CCA412574656PHEXn.1032A>C
c.1358A>C (p.Glu453Ala)
c.602A>C (p.Glu201Ala)
c.251A>C (p.Glu84Ala)
c.1067A>C (p.Glu356Ala)
n.2037A>C
Xg.22133578A>GCA412574657PHEXn.1032A>G
c.1358A>G (p.Glu453Gly)
c.602A>G (p.Glu201Gly)
c.251A>G (p.Glu84Gly)
c.1067A>G (p.Glu356Gly)
n.2037A>G
Xg.22133578A>TCA412574658PHEXn.1032A>T
c.1358A>T (p.Glu453Val)
c.602A>T (p.Glu201Val)
c.251A>T (p.Glu84Val)
c.1067A>T (p.Glu356Val)
n.2037A>T
Xg.22133579A=CA2419181321PHEXn.1033A=
c.1359A= (p.Glu453=)
c.603A= (p.Glu201=)
c.252A= (p.Glu84=)
c.1068A= (p.Glu356=)
n.2038A=
Xg.22133579A>CCA327525253PHEXn.1033A>C
c.1359A>C (p.Glu453Asp)
c.603A>C (p.Glu201Asp)
c.252A>C (p.Glu84Asp)
c.1068A>C (p.Glu356Asp)
n.2038A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.22133579A>GCA515427408PHEXn.1033A>G
c.1359A>G (p.Glu453=)
c.603A>G (p.Glu201=)
c.252A>G (p.Glu84=)
c.1068A>G (p.Glu356=)
n.2038A>G
Xg.22133579A>TCA412574659PHEXn.1033A>T
c.1359A>T (p.Glu453Asp)
c.603A>T (p.Glu201Asp)
c.252A>T (p.Glu84Asp)
c.1068A>T (p.Glu356Asp)
n.2038A>T
Xg.22133580A>CCA412574660PHEXn.1034A>C
c.1360A>C (p.Asn454His)
c.604A>C (p.Asn202His)
c.253A>C (p.Asn85His)
c.1069A>C (p.Asn357His)
n.2039A>C
Xg.22133580A>GCA412574661PHEXn.1034A>G
c.1360A>G (p.Asn454Asp)
c.604A>G (p.Asn202Asp)
c.253A>G (p.Asn85Asp)
c.1069A>G (p.Asn357Asp)
n.2039A>G
Xg.22133580A>TCA412574662PHEXn.1034A>T
c.1360A>T (p.Asn454Tyr)
c.604A>T (p.Asn202Tyr)
c.253A>T (p.Asn85Tyr)
c.1069A>T (p.Asn357Tyr)
n.2039A>T
Xg.22133581A=CA2419181322PHEXn.1035A=
c.1361A= (p.Asn454=)
c.605A= (p.Asn202=)
c.254A= (p.Asn85=)
c.1070A= (p.Asn357=)
n.2040A=
Xg.22133581A>CCA412574663PHEXn.1035A>C
c.1361A>C (p.Asn454Thr)
c.605A>C (p.Asn202Thr)
c.254A>C (p.Asn85Thr)
c.1070A>C (p.Asn357Thr)
n.2040A>C
Xg.22133581A>GCA412574665PHEXn.1035A>G
c.1361A>G (p.Asn454Ser)
c.605A>G (p.Asn202Ser)
c.254A>G (p.Asn85Ser)
c.1070A>G (p.Asn357Ser)
n.2040A>G
Xg.22133581A>TCA412574664PHEXn.1035A>T
c.1361A>T (p.Asn454Ile)
c.605A>T (p.Asn202Ile)
c.254A>T (p.Asn85Ile)
c.1070A>T (p.Asn357Ile)
n.2040A>T
 dbSNP
Xg.22133582T>ACA412574666PHEXn.1036T>A
c.1362T>A (p.Asn454Lys)
c.606T>A (p.Asn202Lys)
c.255T>A (p.Asn85Lys)
c.1071T>A (p.Asn357Lys)
n.2041T>A
Xg.22133582T>CCA515427409PHEXn.1036T>C
c.1362T>C (p.Asn454=)
c.606T>C (p.Asn202=)
c.255T>C (p.Asn85=)
c.1071T>C (p.Asn357=)
n.2041T>C
Xg.22133582T>GCA412574667PHEXn.1036T>G
c.1362T>G (p.Asn454Lys)
c.606T>G (p.Asn202Lys)
c.255T>G (p.Asn85Lys)
c.1071T>G (p.Asn357Lys)
n.2041T>G
Xg.22133583G>ACA412574668PHEXn.1037G>A
c.1363G>A (p.Glu455Lys)
c.607G>A (p.Glu203Lys)
c.256G>A (p.Glu86Lys)
c.1072G>A (p.Glu358Lys)
n.2042G>A
 COSMIC COSMIC
Xg.22133583G>CCA412574669PHEXn.1037G>C
c.1363G>C (p.Glu455Gln)
c.607G>C (p.Glu203Gln)
c.256G>C (p.Glu86Gln)
c.1072G>C (p.Glu358Gln)
n.2042G>C
Xg.22133583G=CA2419181323PHEXn.1037G=
c.1363G= (p.Glu455=)
c.607G= (p.Glu203=)
c.256G= (p.Glu86=)
c.1072G= (p.Glu358=)
n.2042G=
Xg.22133583G>TCA10588762PHEXn.1037G>T
c.1363G>T (p.Glu455Ter)
c.607G>T (p.Glu203Ter)
c.256G>T (p.Glu86Ter)
c.1072G>T (p.Glu358Ter)
n.2042G>T
 ClinVar dbSNP
Xg.22133584delCA2739268141PHEXn.1038del
c.1364del (p.Glu455GlyfsTer28)
c.608del (p.Glu203GlyfsTer28)
c.1364del (p.Glu455GlyfsTer18)
c.257del (p.Glu86GlyfsTer28)
c.1073del (p.Glu358GlyfsTer28)
n.2043del
 ClinVar
Xg.22133584A>CCA412574670PHEXn.1038A>C
c.1364A>C (p.Glu455Ala)
c.608A>C (p.Glu203Ala)
c.257A>C (p.Glu86Ala)
c.1073A>C (p.Glu358Ala)
n.2043A>C
Xg.22133584A>GCA412574671PHEXn.1038A>G
c.1364A>G (p.Glu455Gly)
c.608A>G (p.Glu203Gly)
c.257A>G (p.Glu86Gly)
c.1073A>G (p.Glu358Gly)
n.2043A>G
Xg.22133584A>TCA412574672PHEXn.1038A>T
c.1364A>T (p.Glu455Val)
c.608A>T (p.Glu203Val)
c.257A>T (p.Glu86Val)
c.1073A>T (p.Glu358Val)
n.2043A>T
 COSMIC
Xg.22133585G>ACA515427410PHEXn.1039G>A
c.1365G>A (p.Glu455=)
c.609G>A (p.Glu203=)
c.258G>A (p.Glu86=)
c.1074G>A (p.Glu358=)
n.2044G>A
 gnomAD v4
Xg.22133585G>CCA412574673PHEXn.1039G>C
c.1365G>C (p.Glu455Asp)
c.609G>C (p.Glu203Asp)
c.258G>C (p.Glu86Asp)
c.1074G>C (p.Glu358Asp)
n.2044G>C
Xg.22133585G>TCA412574674PHEXn.1039G>T
c.1365G>T (p.Glu455Asp)
c.609G>T (p.Glu203Asp)
c.258G>T (p.Glu86Asp)
c.1074G>T (p.Glu358Asp)
n.2044G>T
Xg.22133586T>ACA412574677PHEXn.1040T>A
c.1366T>A (p.Trp456Arg)
c.610T>A (p.Trp204Arg)
c.259T>A (p.Trp87Arg)
c.1075T>A (p.Trp359Arg)
n.2045T>A
Xg.22133586T>CCA412574676PHEXn.1040T>C
c.1366T>C (p.Trp456Arg)
c.610T>C (p.Trp204Arg)
c.259T>C (p.Trp87Arg)
c.1075T>C (p.Trp359Arg)
n.2045T>C
 ClinVar dbSNP
Xg.22133586T>GCA412574675PHEXn.1040T>G
c.1366T>G (p.Trp456Gly)
c.610T>G (p.Trp204Gly)
c.259T>G (p.Trp87Gly)
c.1075T>G (p.Trp359Gly)
n.2045T>G
 ClinVar dbSNP
Xg.22133586T=CA2419181324PHEXn.1040T=
c.1366T= (p.Trp456=)
c.610T= (p.Trp204=)
c.259T= (p.Trp87=)
c.1075T= (p.Trp359=)
n.2045T=
Xg.22133587G>ACA10603714PHEXn.1041G>A
c.1367G>A (p.Trp456Ter)
c.611G>A (p.Trp204Ter)
c.260G>A (p.Trp87Ter)
c.1076G>A (p.Trp359Ter)
n.2046G>A
 ClinVar dbSNP
Xg.22133587G>CCA412574678PHEXn.1041G>C
c.1367G>C (p.Trp456Ser)
c.611G>C (p.Trp204Ser)
c.260G>C (p.Trp87Ser)
c.1076G>C (p.Trp359Ser)
n.2046G>C
Xg.22133587G=CA2419181325PHEXn.1041G=
c.1367G= (p.Trp456=)
c.611G= (p.Trp204=)
c.260G= (p.Trp87=)
c.1076G= (p.Trp359=)
n.2046G=
Xg.22133587G>TCA412574679PHEXn.1041G>T
c.1367G>T (p.Trp456Leu)
c.611G>T (p.Trp204Leu)
c.260G>T (p.Trp87Leu)
c.1076G>T (p.Trp359Leu)
n.2046G>T
Xg.22133588G>ACA412574680PHEXn.1042G>A
c.1368G>A (p.Trp456Ter)
c.612G>A (p.Trp204Ter)
c.261G>A (p.Trp87Ter)
c.1077G>A (p.Trp359Ter)
n.2047G>A
 ClinVar dbSNP
Xg.22133588G>CCA10605818PHEXn.1042G>C
c.1368G>C (p.Trp456Cys)
c.612G>C (p.Trp204Cys)
c.261G>C (p.Trp87Cys)
c.1077G>C (p.Trp359Cys)
n.2047G>C
 ClinVar dbSNP
Xg.22133588G=CA2419181326PHEXn.1042G=
c.1368G= (p.Trp456=)
c.612G= (p.Trp204=)
c.261G= (p.Trp87=)
c.1077G= (p.Trp359=)
n.2047G=
Xg.22133588G>TCA412574681PHEXn.1042G>T
c.1368G>T (p.Trp456Cys)
c.612G>T (p.Trp204Cys)
c.261G>T (p.Trp87Cys)
c.1077G>T (p.Trp359Cys)
n.2047G>T
Xg.22133589A=CA2419181327PHEXn.1043A=
c.1369A= (p.Met457=)
c.613A= (p.Met205=)
c.262A= (p.Met88=)
c.1078A= (p.Met360=)
n.2048A=
Xg.22133589A>CCA412574684PHEXn.1043A>C
c.1369A>C (p.Met457Leu)
c.613A>C (p.Met205Leu)
c.262A>C (p.Met88Leu)
c.1078A>C (p.Met360Leu)
n.2048A>C
Xg.22133589A>GCA412574682PHEXn.1043A>G
c.1369A>G (p.Met457Val)
c.613A>G (p.Met205Val)
c.262A>G (p.Met88Val)
c.1078A>G (p.Met360Val)
n.2048A>G
Xg.22133589A>TCA412574683PHEXn.1043A>T
c.1369A>T (p.Met457Leu)
c.613A>T (p.Met205Leu)
c.262A>T (p.Met88Leu)
c.1078A>T (p.Met360Leu)
n.2048A>T
 dbSNP gnomAD v4
Xg.22133590T>ACA412574685PHEXn.1044T>A
c.1370T>A (p.Met457Lys)
c.614T>A (p.Met205Lys)
c.263T>A (p.Met88Lys)
c.1079T>A (p.Met360Lys)
n.2049T>A
Xg.22133590T>CCA412574686PHEXn.1044T>C
c.1370T>C (p.Met457Thr)
c.614T>C (p.Met205Thr)
c.263T>C (p.Met88Thr)
c.1079T>C (p.Met360Thr)
n.2049T>C
Xg.22133590T>GCA412574687PHEXn.1044T>G
c.1370T>G (p.Met457Arg)
c.614T>G (p.Met205Arg)
c.263T>G (p.Met88Arg)
c.1079T>G (p.Met360Arg)
n.2049T>G
Xg.22133591G>ACA412574688PHEXn.1045G>A
c.1371G>A (p.Met457Ile)
c.615G>A (p.Met205Ile)
c.264G>A (p.Met88Ile)
c.1080G>A (p.Met360Ile)
n.2050G>A
 gnomAD v4
Xg.22133591G>CCA412574689PHEXn.1045G>C
c.1371G>C (p.Met457Ile)
c.615G>C (p.Met205Ile)
c.264G>C (p.Met88Ile)
c.1080G>C (p.Met360Ile)
n.2050G>C
Xg.22133591G>TCA412574690PHEXn.1045G>T
c.1371G>T (p.Met457Ile)
c.615G>T (p.Met205Ile)
c.264G>T (p.Met88Ile)
c.1080G>T (p.Met360Ile)
n.2050G>T
Xg.22133592delCA2569328894PHEXn.1046del
c.1372del (p.Asp458MetfsTer25)
c.616del (p.Asp206MetfsTer25)
c.1372del (p.Asp458MetfsTer15)
c.265del (p.Asp89MetfsTer25)
c.1081del (p.Asp361MetfsTer25)
n.2051del
Xg.22133592G>ACA412574691PHEXn.1046G>A
c.1372G>A (p.Asp458Asn)
c.616G>A (p.Asp206Asn)
c.265G>A (p.Asp89Asn)
c.1081G>A (p.Asp361Asn)
n.2051G>A
Xg.22133592G>CCA412574692PHEXn.1046G>C
c.1372G>C (p.Asp458His)
c.616G>C (p.Asp206His)
c.265G>C (p.Asp89His)
c.1081G>C (p.Asp361His)
n.2051G>C
Xg.22133592G>TCA412574693PHEXn.1046G>T
c.1372G>T (p.Asp458Tyr)
c.616G>T (p.Asp206Tyr)
c.265G>T (p.Asp89Tyr)
c.1081G>T (p.Asp361Tyr)
n.2051G>T
Xg.22133593A>CCA412574694PHEXn.1047A>C
c.1373A>C (p.Asp458Ala)
c.617A>C (p.Asp206Ala)
c.266A>C (p.Asp89Ala)
c.1082A>C (p.Asp361Ala)
n.2052A>C
Xg.22133593A>GCA412574695PHEXn.1047A>G
c.1373A>G (p.Asp458Gly)
c.617A>G (p.Asp206Gly)
c.266A>G (p.Asp89Gly)
c.1082A>G (p.Asp361Gly)
n.2052A>G
Xg.22133593A>TCA412574696PHEXn.1047A>T
c.1373A>T (p.Asp458Val)
c.617A>T (p.Asp206Val)
c.266A>T (p.Asp89Val)
c.1082A>T (p.Asp361Val)
n.2052A>T
Xg.22133594T>ACA412574697PHEXn.1048T>A
c.1374T>A (p.Asp458Glu)
c.618T>A (p.Asp206Glu)
c.267T>A (p.Asp89Glu)
c.1083T>A (p.Asp361Glu)
n.2053T>A
 gnomAD v4
Xg.22133594T>CCA10368226PHEXn.1048T>C
c.1374T>C (p.Asp458=)
c.618T>C (p.Asp206=)
c.267T>C (p.Asp89=)
c.1083T>C (p.Asp361=)
n.2053T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22133594T>GCA412574698PHEXn.1048T>G
c.1374T>G (p.Asp458Glu)
c.618T>G (p.Asp206Glu)
c.267T>G (p.Asp89Glu)
c.1083T>G (p.Asp361Glu)
n.2053T>G
Xg.22133594T=CA2419181328PHEXn.1048T=
c.1374T= (p.Asp458=)
c.618T= (p.Asp206=)
c.267T= (p.Asp89=)
c.1083T= (p.Asp361=)
n.2053T=
Xg.22133595G>ACA412574701PHEXn.1049G>A
c.1375G>A (p.Ala459Thr)
c.619G>A (p.Ala207Thr)
c.268G>A (p.Ala90Thr)
c.1084G>A (p.Ala362Thr)
n.2054G>A
Xg.22133595G>CCA412574702PHEXn.1049G>C
c.1375G>C (p.Ala459Pro)
c.619G>C (p.Ala207Pro)
c.268G>C (p.Ala90Pro)
c.1084G>C (p.Ala362Pro)
n.2054G>C
Xg.22133595G>TCA412574703PHEXn.1049G>T
c.1375G>T (p.Ala459Ser)
c.619G>T (p.Ala207Ser)
c.268G>T (p.Ala90Ser)
c.1084G>T (p.Ala362Ser)
n.2054G>T
Xg.22133596C>ACA412574705PHEXn.1050C>A
c.1376C>A (p.Ala459Glu)
c.620C>A (p.Ala207Glu)
c.269C>A (p.Ala90Glu)
c.1085C>A (p.Ala362Glu)
n.2055C>A
 ClinVar dbSNP
Xg.22133596C>GCA412574706PHEXn.1050C>G
c.1376C>G (p.Ala459Gly)
c.620C>G (p.Ala207Gly)
c.269C>G (p.Ala90Gly)
c.1085C>G (p.Ala362Gly)
n.2055C>G
Xg.22133596C>TCA412574707PHEXn.1050C>T
c.1376C>T (p.Ala459Val)
c.620C>T (p.Ala207Val)
c.269C>T (p.Ala90Val)
c.1085C>T (p.Ala362Val)
n.2055C>T
Xg.22133597A>CCA515427411PHEXn.1051A>C
c.1377A>C (p.Ala459=)
c.621A>C (p.Ala207=)
c.270A>C (p.Ala90=)
c.1086A>C (p.Ala362=)
n.2056A>C
Xg.22133597A>GCA515427412PHEXn.1051A>G
c.1377A>G (p.Ala459=)
c.621A>G (p.Ala207=)
c.270A>G (p.Ala90=)
c.1086A>G (p.Ala362=)
n.2056A>G
Xg.22133597A>TCA515427413PHEXn.1051A>T
c.1377A>T (p.Ala459=)
c.621A>T (p.Ala207=)
c.270A>T (p.Ala90=)
c.1086A>T (p.Ala362=)
n.2056A>T
Xg.22133598G>ACA412574708PHEXn.1052G>A
c.1378G>A (p.Gly460Arg)
c.622G>A (p.Gly208Arg)
c.271G>A (p.Gly91Arg)
c.1087G>A (p.Gly363Arg)
n.2057G>A
 dbSNP
Xg.22133598G>CCA412574710PHEXn.1052G>C
c.1378G>C (p.Gly460Arg)
c.622G>C (p.Gly208Arg)
c.271G>C (p.Gly91Arg)
c.1087G>C (p.Gly363Arg)
n.2057G>C
Xg.22133598G=CA2419181329PHEXn.1052G=
c.1378G= (p.Gly460=)
c.622G= (p.Gly208=)
c.271G= (p.Gly91=)
c.1087G= (p.Gly363=)
n.2057G=
Xg.22133598G>TCA412574711PHEXn.1052G>T
c.1378G>T (p.Gly460Ter)
c.622G>T (p.Gly208Ter)
c.271G>T (p.Gly91Ter)
c.1087G>T (p.Gly363Ter)
n.2057G>T
Xg.22133599G>ACA412574713PHEXn.1053G>A
c.1379G>A (p.Gly460Glu)
c.623G>A (p.Gly208Glu)
c.272G>A (p.Gly91Glu)
c.1088G>A (p.Gly363Glu)
n.2058G>A
Xg.22133599G>CCA412574714PHEXn.1053G>C
c.1379G>C (p.Gly460Ala)
c.623G>C (p.Gly208Ala)
c.272G>C (p.Gly91Ala)
c.1088G>C (p.Gly363Ala)
n.2058G>C
Xg.22133599G>TCA412574715PHEXn.1053G>T
c.1379G>T (p.Gly460Val)
c.623G>T (p.Gly208Val)
c.272G>T (p.Gly91Val)
c.1088G>T (p.Gly363Val)
n.2058G>T
Xg.22133600A=CA2419181330PHEXn.1054A=
c.1380A= (p.Gly460=)
c.624A= (p.Gly208=)
c.273A= (p.Gly91=)
c.1089A= (p.Gly363=)
n.2059A=
Xg.22133600A>CCA515427414PHEXn.1054A>C
c.1380A>C (p.Gly460=)
c.624A>C (p.Gly208=)
c.273A>C (p.Gly91=)
c.1089A>C (p.Gly363=)
n.2059A>C
Xg.22133600A>GCA10368227PHEXn.1054A>G
c.1380A>G (p.Gly460=)
c.624A>G (p.Gly208=)
c.273A>G (p.Gly91=)
c.1089A>G (p.Gly363=)
n.2059A>G
 dbSNP ExAC
Xg.22133600A>TCA515427415PHEXn.1054A>T
c.1380A>T (p.Gly460=)
c.624A>T (p.Gly208=)
c.273A>T (p.Gly91=)
c.1089A>T (p.Gly363=)
n.2059A>T
Xg.22133601A>CCA412574718PHEXn.1055A>C
c.1381A>C (p.Thr461Pro)
c.625A>C (p.Thr209Pro)
c.274A>C (p.Thr92Pro)
c.1090A>C (p.Thr364Pro)
n.2060A>C
Xg.22133601A>GCA412574721PHEXn.1055A>G
c.1381A>G (p.Thr461Ala)
c.625A>G (p.Thr209Ala)
c.274A>G (p.Thr92Ala)
c.1090A>G (p.Thr364Ala)
n.2060A>G
Xg.22133601A>TCA412574719PHEXn.1055A>T
c.1381A>T (p.Thr461Ser)
c.625A>T (p.Thr209Ser)
c.274A>T (p.Thr92Ser)
c.1090A>T (p.Thr364Ser)
n.2060A>T
Xg.22133602C>ACA16621323PHEXn.1056C>A
c.1382C>A (p.Thr461Lys)
c.626C>A (p.Thr209Lys)
c.275C>A (p.Thr92Lys)
c.1091C>A (p.Thr364Lys)
n.2061C>A
 ClinVar dbSNP
Xg.22133602C=CA2419181331PHEXn.1056C=
c.1382C= (p.Thr461=)
c.626C= (p.Thr209=)
c.275C= (p.Thr92=)
c.1091C= (p.Thr364=)
n.2061C=
Xg.22133602C>GCA412574722PHEXn.1056C>G
c.1382C>G (p.Thr461Arg)
c.626C>G (p.Thr209Arg)
c.275C>G (p.Thr92Arg)
c.1091C>G (p.Thr364Arg)
n.2061C>G
 ClinVar dbSNP
Xg.22133602C>TCA10368228PHEXn.1056C>T
c.1382C>T (p.Thr461Met)
c.626C>T (p.Thr209Met)
c.275C>T (p.Thr92Met)
c.1091C>T (p.Thr364Met)
n.2061C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22133603G>ACA10368229PHEXn.1057G>A
c.1383G>A (p.Thr461=)
c.627G>A (p.Thr209=)
c.276G>A (p.Thr92=)
c.1092G>A (p.Thr364=)
n.2062G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.22133603G>CCA515427416PHEXn.1057G>C
c.1383G>C (p.Thr461=)
c.627G>C (p.Thr209=)
c.276G>C (p.Thr92=)
c.1092G>C (p.Thr364=)
n.2062G>C
Xg.22133603G=CA2419181332PHEXn.1057G=
c.1383G= (p.Thr461=)
c.627G= (p.Thr209=)
c.276G= (p.Thr92=)
c.1092G= (p.Thr364=)
n.2062G=
Xg.22133603G>TCA515427417PHEXn.1057G>T
c.1383G>T (p.Thr461=)
c.627G>T (p.Thr209=)
c.276G>T (p.Thr92=)
c.1092G>T (p.Thr364=)
n.2062G>T
Xg.22133603_22133604delinsGACA2419181333PHEXn.1057_1058delinsGA
c.1383_1384delinsGA (p.Thr461=)
c.627_628delinsGA (p.Thr209=)
c.276_277delinsGA (p.Thr92=)
c.1092_1093delinsGA (p.Thr364=)
n.2062_2063delinsGA
Xg.22133610_22133625delCA2499226575PHEXn.1064_1078+1del
c.1390_1404+1del
c.634_648+1del
c.283_297+1del
c.1099_1113+1del
n.2069_2083+1del
 ClinVar dbSNP
Xg.22133604A>CCA412574724PHEXn.1058A>C
c.1384A>C (p.Lys462Gln)
c.628A>C (p.Lys210Gln)
c.277A>C (p.Lys93Gln)
c.1093A>C (p.Lys365Gln)
n.2063A>C
Xg.22133604A>GCA412574725PHEXn.1058A>G
c.1384A>G (p.Lys462Glu)
c.628A>G (p.Lys210Glu)
c.277A>G (p.Lys93Glu)
c.1093A>G (p.Lys365Glu)
n.2063A>G
Xg.22133604A>TCA412574726PHEXn.1058A>T
c.1384A>T (p.Lys462Ter)
c.628A>T (p.Lys210Ter)
c.277A>T (p.Lys93Ter)
c.1093A>T (p.Lys365Ter)
n.2063A>T
Xg.22133607dupCA2573158531PHEXn.1061dup
c.1387dup (p.Arg463LysfsTer23)
c.631dup (p.Arg211LysfsTer23)
c.1387dup (p.Arg463LysfsTer12)
c.280dup (p.Arg94LysfsTer23)
c.1096dup (p.Arg366LysfsTer23)
n.2066dup
 ClinVar dbSNP
Xg.22133607delCA1139667297PHEXn.1061del
c.1387del (p.Arg463GlyfsTer20)
c.631del (p.Arg211GlyfsTer20)
c.1387del (p.Arg463GlyfsTer10)
c.280del (p.Arg94GlyfsTer20)
c.1096del (p.Arg366GlyfsTer20)
n.2066del
 ClinVar dbSNP
Xg.22133605A>CCA412574727PHEXn.1059A>C
c.1385A>C (p.Lys462Thr)
c.629A>C (p.Lys210Thr)
c.278A>C (p.Lys93Thr)
c.1094A>C (p.Lys365Thr)
n.2064A>C
Xg.22133605A>GCA412574729PHEXn.1059A>G
c.1385A>G (p.Lys462Arg)
c.629A>G (p.Lys210Arg)
c.278A>G (p.Lys93Arg)
c.1094A>G (p.Lys365Arg)
n.2064A>G
Xg.22133605A>TCA412574730PHEXn.1059A>T
c.1385A>T (p.Lys462Ile)
c.629A>T (p.Lys210Ile)
c.278A>T (p.Lys93Ile)
c.1094A>T (p.Lys365Ile)
n.2064A>T
Xg.22133606A>CCA412574732PHEXn.1060A>C
c.1386A>C (p.Lys462Asn)
c.630A>C (p.Lys210Asn)
c.279A>C (p.Lys93Asn)
c.1095A>C (p.Lys365Asn)
n.2065A>C
Xg.22133606A>GCA515427418PHEXn.1060A>G
c.1386A>G (p.Lys462=)
c.630A>G (p.Lys210=)
c.279A>G (p.Lys93=)
c.1095A>G (p.Lys365=)
n.2065A>G
Xg.22133606A>TCA412574733PHEXn.1060A>T
c.1386A>T (p.Lys462Asn)
c.630A>T (p.Lys210Asn)
c.279A>T (p.Lys93Asn)
c.1095A>T (p.Lys365Asn)
n.2065A>T
Xg.22133607A>CCA515427419PHEXn.1061A>C
c.1387A>C (p.Arg463=)
c.631A>C (p.Arg211=)
c.280A>C (p.Arg94=)
c.1096A>C (p.Arg366=)
n.2066A>C
Xg.22133607A>GCA412574735PHEXn.1061A>G
c.1387A>G (p.Arg463Gly)
c.631A>G (p.Arg211Gly)
c.280A>G (p.Arg94Gly)
c.1096A>G (p.Arg366Gly)
n.2066A>G
 gnomAD v4
Xg.22133607A>TCA412574736PHEXn.1061A>T
c.1387A>T (p.Arg463Trp)
c.631A>T (p.Arg211Trp)
c.280A>T (p.Arg94Trp)
c.1096A>T (p.Arg366Trp)
n.2066A>T
Xg.22133608G>ACA412574738PHEXn.1062G>A
c.1388G>A (p.Arg463Lys)
c.632G>A (p.Arg211Lys)
c.281G>A (p.Arg94Lys)
c.1097G>A (p.Arg366Lys)
n.2067G>A
Xg.22133608G>CCA412574739PHEXn.1062G>C
c.1388G>C (p.Arg463Thr)
c.632G>C (p.Arg211Thr)
c.281G>C (p.Arg94Thr)
c.1097G>C (p.Arg366Thr)
n.2067G>C
Xg.22133608G>TCA412574741PHEXn.1062G>T
c.1388G>T (p.Arg463Met)
c.632G>T (p.Arg211Met)
c.281G>T (p.Arg94Met)
c.1097G>T (p.Arg366Met)
n.2067G>T
Xg.22133609G>ACA515427420PHEXn.1063G>A
c.1389G>A (p.Arg463=)
c.633G>A (p.Arg211=)
c.282G>A (p.Arg94=)
c.1098G>A (p.Arg366=)
n.2068G>A
Xg.22133609G>CCA412574743PHEXn.1063G>C
c.1389G>C (p.Arg463Ser)
c.633G>C (p.Arg211Ser)
c.282G>C (p.Arg94Ser)
c.1098G>C (p.Arg366Ser)
n.2068G>C
Xg.22133609G>TCA412574744PHEXn.1063G>T
c.1389G>T (p.Arg463Ser)
c.633G>T (p.Arg211Ser)
c.282G>T (p.Arg94Ser)
c.1098G>T (p.Arg366Ser)
n.2068G>T
Xg.22133610A>CCA412574751PHEXn.1064A>C
c.1390A>C (p.Lys464Gln)
c.634A>C (p.Lys212Gln)
c.283A>C (p.Lys95Gln)
c.1099A>C (p.Lys367Gln)
n.2069A>C
Xg.22133610A>GCA412574745PHEXn.1064A>G
c.1390A>G (p.Lys464Glu)
c.634A>G (p.Lys212Glu)
c.283A>G (p.Lys95Glu)
c.1099A>G (p.Lys367Glu)
n.2069A>G
Xg.22133610A>TCA412574747PHEXn.1064A>T
c.1390A>T (p.Lys464Ter)
c.634A>T (p.Lys212Ter)
c.283A>T (p.Lys95Ter)
c.1099A>T (p.Lys367Ter)
n.2069A>T
Xg.22133612delCA2579572201PHEXn.1066del
c.1392del (p.Ala465ProfsTer18)
c.636del (p.Ala213ProfsTer18)
c.1392del (p.Ala465ProfsTer8)
c.285del (p.Ala96ProfsTer18)
c.1101del (p.Ala368ProfsTer18)
n.2071del
Xg.22133611A>CCA412574753PHEXn.1065A>C
c.1391A>C (p.Lys464Thr)
c.635A>C (p.Lys212Thr)
c.284A>C (p.Lys95Thr)
c.1100A>C (p.Lys367Thr)
n.2070A>C
Xg.22133611A>GCA412574754PHEXn.1065A>G
c.1391A>G (p.Lys464Arg)
c.635A>G (p.Lys212Arg)
c.284A>G (p.Lys95Arg)
c.1100A>G (p.Lys367Arg)
n.2070A>G
 gnomAD v4
Xg.22133611A>TCA412574756PHEXn.1065A>T
c.1391A>T (p.Lys464Ile)
c.635A>T (p.Lys212Ile)
c.284A>T (p.Lys95Ile)
c.1100A>T (p.Lys367Ile)
n.2070A>T
Xg.22133612A>CCA412574758PHEXn.1066A>C
c.1392A>C (p.Lys464Asn)
c.636A>C (p.Lys212Asn)
c.285A>C (p.Lys95Asn)
c.1101A>C (p.Lys367Asn)
n.2071A>C
Xg.22133612A>GCA515427421PHEXn.1066A>G
c.1392A>G (p.Lys464=)
c.636A>G (p.Lys212=)
c.285A>G (p.Lys95=)
c.1101A>G (p.Lys367=)
n.2071A>G
Xg.22133612A>TCA412574759PHEXn.1066A>T
c.1392A>T (p.Lys464Asn)
c.636A>T (p.Lys212Asn)
c.285A>T (p.Lys95Asn)
c.1101A>T (p.Lys367Asn)
n.2071A>T
Xg.22133613G>ACA412574761PHEXn.1067G>A
c.1393G>A (p.Ala465Thr)
c.637G>A (p.Ala213Thr)
c.286G>A (p.Ala96Thr)
c.1102G>A (p.Ala368Thr)
n.2072G>A
Xg.22133613G>CCA412574764PHEXn.1067G>C
c.1393G>C (p.Ala465Pro)
c.637G>C (p.Ala213Pro)
c.286G>C (p.Ala96Pro)
c.1102G>C (p.Ala368Pro)
n.2072G>C
Xg.22133613G>TCA412574762PHEXn.1067G>T
c.1393G>T (p.Ala465Ser)
c.637G>T (p.Ala213Ser)
c.286G>T (p.Ala96Ser)
c.1102G>T (p.Ala368Ser)
n.2072G>T
Xg.22133614C>ACA412574766PHEXn.1068C>A
c.1394C>A (p.Ala465Asp)
c.638C>A (p.Ala213Asp)
c.287C>A (p.Ala96Asp)
c.1103C>A (p.Ala368Asp)
n.2073C>A
 ClinVar dbSNP gnomAD v4
Xg.22133614C=CA2419181334PHEXn.1068C=
c.1394C= (p.Ala465=)
c.638C= (p.Ala213=)
c.287C= (p.Ala96=)
c.1103C= (p.Ala368=)
n.2073C=
Xg.22133614C>GCA412574768PHEXn.1068C>G
c.1394C>G (p.Ala465Gly)
c.638C>G (p.Ala213Gly)
c.287C>G (p.Ala96Gly)
c.1103C>G (p.Ala368Gly)
n.2073C>G
Xg.22133614C>TCA412574769PHEXn.1068C>T
c.1394C>T (p.Ala465Val)
c.638C>T (p.Ala213Val)
c.287C>T (p.Ala96Val)
c.1103C>T (p.Ala368Val)
n.2073C>T
Xg.22133615C>ACA515427422PHEXn.1069C>A
c.1395C>A (p.Ala465=)
c.639C>A (p.Ala213=)
c.288C>A (p.Ala96=)
c.1104C>A (p.Ala368=)
n.2074C>A
 gnomAD v4
Xg.22133615C=CA2419181335PHEXn.1069C=
c.1395C= (p.Ala465=)
c.639C= (p.Ala213=)
c.288C= (p.Ala96=)
c.1104C= (p.Ala368=)
n.2074C=
Xg.22133615C>GCA10368230PHEXn.1069C>G
c.1395C>G (p.Ala465=)
c.639C>G (p.Ala213=)
c.288C>G (p.Ala96=)
c.1104C>G (p.Ala368=)
n.2074C>G
 dbSNP ExAC gnomAD v2
Xg.22133615C>TCA515427423PHEXn.1069C>T
c.1395C>T (p.Ala465=)
c.639C>T (p.Ala213=)
c.288C>T (p.Ala96=)
c.1104C>T (p.Ala368=)
n.2074C>T
Xg.22133615_22133620delinsCAAAGACA2419181336PHEXn.1069_1074delinsCAAAGA
c.1395_1400delinsCAAAGA (p.Ala465=)
c.639_644delinsCAAAGA (p.Ala213=)
c.288_293delinsCAAAGA (p.Ala96=)
c.1104_1109delinsCAAAGA (p.Ala368=)
n.2074_2079delinsCAAAGA
Xg.22133616A=CA2419181337PHEXn.1070A=
c.1396A= (p.Lys466=)
c.640A= (p.Lys214=)
c.289A= (p.Lys97=)
c.1105A= (p.Lys369=)
n.2075A=
Xg.22133616A>CCA327525254PHEXn.1070A>C
c.1396A>C (p.Lys466Gln)
c.640A>C (p.Lys214Gln)
c.289A>C (p.Lys97Gln)
c.1105A>C (p.Lys369Gln)
n.2075A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.22133616A>GCA412574772PHEXn.1070A>G
c.1396A>G (p.Lys466Glu)
c.640A>G (p.Lys214Glu)
c.289A>G (p.Lys97Glu)
c.1105A>G (p.Lys369Glu)
n.2075A>G
 gnomAD v4
Xg.22133616A>TCA412574773PHEXn.1070A>T
c.1396A>T (p.Lys466Ter)
c.640A>T (p.Lys214Ter)
c.289A>T (p.Lys97Ter)
c.1105A>T (p.Lys369Ter)
n.2075A>T
Xg.22133618dupCA2499226576PHEXn.1072dup
c.1398dup (p.Glu467ArgfsTer19)
c.642dup (p.Glu215ArgfsTer19)
c.1398dup (p.Glu467ArgfsTer8)
c.291dup (p.Glu98ArgfsTer19)
c.1107dup (p.Glu370ArgfsTer19)
n.2077dup
 ClinVar dbSNP
Xg.22133620_22133624delCA916083858PHEXn.1074_1078del
c.1400_1404del (p.Glu467GlyfsTer17)
c.644_648del (p.Glu215GlyfsTer17)
c.1400_1404del (p.Glu467GlyfsTer6)
c.293_297del (p.Glu98GlyfsTer17)
c.1109_1113del (p.Glu370GlyfsTer17)
n.2079_2083del
 ClinVar dbSNP
Xg.22133617A>CCA412574775PHEXn.1071A>C
c.1397A>C (p.Lys466Thr)
c.641A>C (p.Lys214Thr)
c.290A>C (p.Lys97Thr)
c.1106A>C (p.Lys369Thr)
n.2076A>C
Xg.22133617A>GCA412574777PHEXn.1071A>G
c.1397A>G (p.Lys466Arg)
c.641A>G (p.Lys214Arg)
c.290A>G (p.Lys97Arg)
c.1106A>G (p.Lys369Arg)
n.2076A>G
 gnomAD v4
Xg.22133617A>TCA412574778PHEXn.1071A>T
c.1397A>T (p.Lys466Ile)
c.641A>T (p.Lys214Ile)
c.290A>T (p.Lys97Ile)
c.1106A>T (p.Lys369Ile)
n.2076A>T
Xg.22133618A>CCA412574780PHEXn.1072A>C
c.1398A>C (p.Lys466Asn)
c.642A>C (p.Lys214Asn)
c.291A>C (p.Lys97Asn)
c.1107A>C (p.Lys369Asn)
n.2077A>C
Xg.22133618A>GCA515427424PHEXn.1072A>G
c.1398A>G (p.Lys466=)
c.642A>G (p.Lys214=)
c.291A>G (p.Lys97=)
c.1107A>G (p.Lys369=)
n.2077A>G
Xg.22133618A>TCA412574781PHEXn.1072A>T
c.1398A>T (p.Lys466Asn)
c.642A>T (p.Lys214Asn)
c.291A>T (p.Lys97Asn)
c.1107A>T (p.Lys369Asn)
n.2077A>T
Xg.22133619G>ACA412574782PHEXn.1073G>A
c.1399G>A (p.Glu467Lys)
c.643G>A (p.Glu215Lys)
c.292G>A (p.Glu98Lys)
c.1108G>A (p.Glu370Lys)
n.2078G>A
Xg.22133619G>CCA412574784PHEXn.1073G>C
c.1399G>C (p.Glu467Gln)
c.643G>C (p.Glu215Gln)
c.292G>C (p.Glu98Gln)
c.1108G>C (p.Glu370Gln)
n.2078G>C
Xg.22133619G=CA2419181338PHEXn.1073G=
c.1399G= (p.Glu467=)
c.643G= (p.Glu215=)
c.292G= (p.Glu98=)
c.1108G= (p.Glu370=)
n.2078G=
Xg.22133619G>TCA412574783PHEXn.1073G>T
c.1399G>T (p.Glu467Ter)
c.643G>T (p.Glu215Ter)
c.292G>T (p.Glu98Ter)
c.1108G>T (p.Glu370Ter)
n.2078G>T
 ClinVar dbSNP
Xg.22133620A=CA2419181339PHEXn.1074A=
c.1400A= (p.Glu467=)
c.644A= (p.Glu215=)
c.293A= (p.Glu98=)
c.1109A= (p.Glu370=)
n.2079A=
Xg.22133620A>CCA412574786PHEXn.1074A>C
c.1400A>C (p.Glu467Ala)
c.644A>C (p.Glu215Ala)
c.293A>C (p.Glu98Ala)
c.1109A>C (p.Glu370Ala)
n.2079A>C
Xg.22133620A>GCA412574787PHEXn.1074A>G
c.1400A>G (p.Glu467Gly)
c.644A>G (p.Glu215Gly)
c.293A>G (p.Glu98Gly)
c.1109A>G (p.Glu370Gly)
n.2079A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.22133620A>TCA412574789PHEXn.1074A>T
c.1400A>T (p.Glu467Val)
c.644A>T (p.Glu215Val)
c.293A>T (p.Glu98Val)
c.1109A>T (p.Glu370Val)
n.2079A>T
Xg.22133623delCA2695231784PHEXn.1077del
c.1403del (p.Lys468ArgfsTer15)
c.647del (p.Lys216ArgfsTer15)
c.1403del (p.Lys468ArgfsTer5)
c.296del (p.Lys99ArgfsTer15)
c.1112del (p.Lys371ArgfsTer15)
n.2082del
Xg.22133621A>CCA412574790PHEXn.1075A>C
c.1401A>C (p.Glu467Asp)
c.645A>C (p.Glu215Asp)
c.294A>C (p.Glu98Asp)
c.1110A>C (p.Glu370Asp)
n.2080A>C
Xg.22133621A>GCA515427425PHEXn.1075A>G
c.1401A>G (p.Glu467=)
c.645A>G (p.Glu215=)
c.294A>G (p.Glu98=)
c.1110A>G (p.Glu370=)
n.2080A>G
Xg.22133621A>TCA412574792PHEXn.1075A>T
c.1401A>T (p.Glu467Asp)
c.645A>T (p.Glu215Asp)
c.294A>T (p.Glu98Asp)
c.1110A>T (p.Glu370Asp)
n.2080A>T
Xg.22133622A=CA2419181340PHEXn.1076A=
c.1402A= (p.Lys468=)
c.646A= (p.Lys216=)
c.295A= (p.Lys99=)
c.1111A= (p.Lys371=)
n.2081A=
Xg.22133622A>CCA412574793PHEXn.1076A>C
c.1402A>C (p.Lys468Gln)
c.646A>C (p.Lys216Gln)
c.295A>C (p.Lys99Gln)
c.1111A>C (p.Lys371Gln)
n.2081A>C
Xg.22133622A>GCA412574795PHEXn.1076A>G
c.1402A>G (p.Lys468Glu)
c.646A>G (p.Lys216Glu)
c.295A>G (p.Lys99Glu)
c.1111A>G (p.Lys371Glu)
n.2081A>G
 ClinVar dbSNP
Xg.22133622A>TCA412574796PHEXn.1076A>T
c.1402A>T (p.Lys468Ter)
c.646A>T (p.Lys216Ter)
c.295A>T (p.Lys99Ter)
c.1111A>T (p.Lys371Ter)
n.2081A>T
 ClinVar dbSNP COSMIC COSMIC
Xg.22133626_22133630delCA2499226577PHEXn.1078+2_1078+6del
c.1404+2_1404+6del
c.648+2_648+6del
c.297+2_297+6del
c.1113+2_1113+6del
n.2083+2_2083+6del
 ClinVar dbSNP
Xg.22133623A=CA2419181341PHEXn.1077A=
c.1403A= (p.Lys468=)
c.647A= (p.Lys216=)
c.296A= (p.Lys99=)
c.1112A= (p.Lys371=)
n.2082A=
Xg.22133623A>CCA412574798PHEXn.1077A>C
c.1403A>C (p.Lys468Thr)
c.647A>C (p.Lys216Thr)
c.296A>C (p.Lys99Thr)
c.1112A>C (p.Lys371Thr)
n.2082A>C
 ClinVar dbSNP
Xg.22133623A>GCA412574800PHEXn.1077A>G
c.1403A>G (p.Lys468Arg)
c.647A>G (p.Lys216Arg)
c.296A>G (p.Lys99Arg)
c.1112A>G (p.Lys371Arg)
n.2082A>G
Xg.22133623A>TCA412574801PHEXn.1077A>T
c.1403A>T (p.Lys468Met)
c.647A>T (p.Lys216Met)
c.296A>T (p.Lys99Met)
c.1112A>T (p.Lys371Met)
n.2082A>T
Xg.22133623_22133624delinsTCA2695231785PHEXn.1077_1078delinsT
c.1403_1404delinsT (p.Lys468MetfsTer15)
c.647_648delinsT (p.Lys216MetfsTer15)
c.1403_1404delinsT (p.Lys468MetfsTer5)
c.296_297delinsT (p.Lys99MetfsTer15)
c.1112_1113delinsT (p.Lys371MetfsTer15)
n.2082_2083delinsT
Xg.22133624G>ACA515427426PHEXn.1078G>A
c.1404G>A (p.Lys468=)
c.648G>A (p.Lys216=)
c.297G>A (p.Lys99=)
c.1113G>A (p.Lys371=)
n.2083G>A
 gnomAD v4
Xg.22133624G>CCA10368231PHEXn.1078G>C
c.1404G>C (p.Lys468Asn)
c.648G>C (p.Lys216Asn)
c.297G>C (p.Lys99Asn)
c.1113G>C (p.Lys371Asn)
n.2083G>C
 ClinVar dbSNP ExAC
Xg.22133624G=CA2419181342PHEXn.1078G=
c.1404G= (p.Lys468=)
c.648G= (p.Lys216=)
c.297G= (p.Lys99=)
c.1113G= (p.Lys371=)
n.2083G=
Xg.22133624G>TCA412574803PHEXn.1078G>T
c.1404G>T (p.Lys468Asn)
c.648G>T (p.Lys216Asn)
c.297G>T (p.Lys99Asn)
c.1113G>T (p.Lys371Asn)
n.2083G>T
 ClinVar
Xg.22133625delCA913187413PHEXn.1078+1del
c.1404+1del
c.648+1del
c.297+1del
c.1113+1del
n.2083+1del
Xg.22133625G>ACA412574804PHEXn.1078+1G>A
c.1404+1G>A (n.1404+1G>A)
c.648+1G>A (n.648+1G>A)
c.297+1G>A (n.297+1G>A)
c.1113+1G>A (n.1113+1G>A)
n.2083+1G>A
 gnomAD v4
Xg.22133625G>CCA412574808PHEXn.1078+1G>C
c.1404+1G>C (n.1404+1G>C)
c.648+1G>C (n.648+1G>C)
c.297+1G>C (n.297+1G>C)
c.1113+1G>C (n.1113+1G>C)
n.2083+1G>C
 ClinVar dbSNP
Xg.22133625G>TCA412574806PHEXn.1078+1G>T
c.1404+1G>T (n.1404+1G>T)
c.648+1G>T (n.648+1G>T)
c.297+1G>T (n.297+1G>T)
c.1113+1G>T (n.1113+1G>T)
n.2083+1G>T
Xg.22133626T>ACA412574809PHEXn.1078+2T>A
c.1404+2T>A (n.1404+2T>A)
c.648+2T>A (n.648+2T>A)
c.297+2T>A (n.297+2T>A)
c.1113+2T>A (n.1113+2T>A)
n.2083+2T>A
Xg.22133626T>CCA412574814PHEXn.1078+2T>C
c.1404+2T>C (n.1404+2T>C)
c.648+2T>C (n.648+2T>C)
c.297+2T>C (n.297+2T>C)
c.1113+2T>C (n.1113+2T>C)
n.2083+2T>C
 dbSNP
Xg.22133626T>GCA260501PHEXn.1078+2T>G
c.1404+2T>G (n.1404+2T>G)
c.648+2T>G (n.648+2T>G)
c.297+2T>G (n.297+2T>G)
c.1113+2T>G (n.1113+2T>G)
n.2083+2T>G
 ClinVar dbSNP
Xg.22133626T=CA2419181343PHEXn.1078+2T=
c.1404+2T= (n.1404+2T=)
c.648+2T= (n.648+2T=)
c.297+2T= (n.297+2T=)
c.1113+2T= (n.1113+2T=)
n.2083+2T=
Xg.22133627A>GCA2693306109PHEXn.1078+3A>G
c.1404+3A>G (n.1404+3A>G)
c.648+3A>G (n.648+3A>G)
c.297+3A>G (n.297+3A>G)
c.1113+3A>G (n.1113+3A>G)
n.2083+3A>G
 gnomAD v4
Xg.22133628delCA2693306110PHEXn.1078+4del
c.1404+4del (n.1404+4del)
c.648+4del (n.648+4del)
c.297+4del (n.297+4del)
c.1113+4del (n.1113+4del)
n.2083+4del
 gnomAD v4
Xg.22133628A>GCA2693306111PHEXn.1078+4A>G
c.1404+4A>G (n.1404+4A>G)
c.648+4A>G (n.648+4A>G)
c.297+4A>G (n.297+4A>G)
c.1113+4A>G (n.1113+4A>G)
n.2083+4A>G
 gnomAD v4
Xg.22133629G>ACA2579572202PHEXn.1078+5G>A
c.1404+5G>A (n.1404+5G>A)
c.648+5G>A (n.648+5G>A)
c.297+5G>A (n.297+5G>A)
c.1113+5G>A (n.1113+5G>A)
n.2083+5G>A
 gnomAD v4
Xg.22133630G>ACA2693306112PHEXn.1078+6G>A
c.1404+6G>A (n.1404+6G>A)
c.648+6G>A (n.648+6G>A)
c.297+6G>A (n.297+6G>A)
c.1113+6G>A (n.1113+6G>A)
n.2083+6G>A
 gnomAD v4
Xg.22133631A>GCA2693306113PHEXn.1078+7A>G
c.1404+7A>G (n.1404+7A>G)
c.648+7A>G (n.648+7A>G)
c.297+7A>G (n.297+7A>G)
c.1113+7A>G (n.1113+7A>G)
n.2083+7A>G
 gnomAD v4
Xg.22133633T>CCA2693306114PHEXn.1078+9T>C
c.1404+9T>C (n.1404+9T>C)
c.648+9T>C (n.648+9T>C)
c.297+9T>C (n.297+9T>C)
c.1113+9T>C (n.1113+9T>C)
n.2083+9T>C
 gnomAD v4
Xg.22133634C>ACA2579572203PHEXn.1078+10C>A
c.1404+10C>A (n.1404+10C>A)
c.648+10C>A (n.648+10C>A)
c.297+10C>A (n.297+10C>A)
c.1113+10C>A (n.1113+10C>A)
n.2083+10C>A
 gnomAD v4
Xg.22133634C>TCA2693306115PHEXn.1078+10C>T
c.1404+10C>T (n.1404+10C>T)
c.648+10C>T (n.648+10C>T)
c.297+10C>T (n.297+10C>T)
c.1113+10C>T (n.1113+10C>T)
n.2083+10C>T
 gnomAD v4
Xg.22133634_22133643delCA2820020463PHEXn.1078+10_1078+19del
c.1404+10_1404+19del (n.1404+10_1404+19del)
c.648+10_648+19del (n.648+10_648+19del)
c.297+10_297+19del (n.297+10_297+19del)
c.1113+10_1113+19del (n.1113+10_1113+19del)
n.2083+10_2083+19del
Xg.22133635C>ACA2820020464PHEXn.1078+11C>A
c.1404+11C>A (n.1404+11C>A)
c.648+11C>A (n.648+11C>A)
c.297+11C>A (n.297+11C>A)
c.1113+11C>A (n.1113+11C>A)
n.2083+11C>A
Xg.22133635_22133643delCA1131562904PHEXn.1078+11_1078+19del
c.1404+11_1404+19del (n.1404+11_1404+19del)
c.648+11_648+19del (n.648+11_648+19del)
c.297+11_297+19del (n.297+11_297+19del)
c.1113+11_1113+19del (n.1113+11_1113+19del)
n.2083+11_2083+19del
 gnomAD v3 gnomAD v4
Xg.22133636T>CCA2419181345PHEXn.1078+12T>C
c.1404+12T>C (n.1404+12T>C)
c.648+12T>C (n.648+12T>C)
c.297+12T>C (n.297+12T>C)
c.1113+12T>C (n.1113+12T>C)
n.2083+12T>C
 dbSNP gnomAD v4
Xg.22133636T=CA2419181344PHEXn.1078+12T=
c.1404+12T= (n.1404+12T=)
c.648+12T= (n.648+12T=)
c.297+12T= (n.297+12T=)
c.1113+12T= (n.1113+12T=)
n.2083+12T=
Xg.22133639delCA2693306116PHEXn.1078+15del
c.1404+15del (n.1404+15del)
c.648+15del (n.648+15del)
c.297+15del (n.297+15del)
c.1113+15del (n.1113+15del)
n.2083+15del
 gnomAD v4
Xg.22133636_22133643delCA2820020465PHEXn.1078+12_1078+19del
c.1404+12_1404+19del (n.1404+12_1404+19del)
c.648+12_648+19del (n.648+12_648+19del)
c.297+12_297+19del (n.297+12_297+19del)
c.1113+12_1113+19del (n.1113+12_1113+19del)
n.2083+12_2083+19del
Xg.22133637_22133643delCA2820020466PHEXn.1078+13_1078+19del
c.1404+13_1404+19del (n.1404+13_1404+19del)
c.648+13_648+19del (n.648+13_648+19del)
c.297+13_297+19del (n.297+13_297+19del)
c.1113+13_1113+19del (n.1113+13_1113+19del)
n.2083+13_2083+19del
Xg.22133638T>ACA2820020467PHEXn.1078+14T>A
c.1404+14T>A (n.1404+14T>A)
c.648+14T>A (n.648+14T>A)
c.297+14T>A (n.297+14T>A)
c.1113+14T>A (n.1113+14T>A)
n.2083+14T>A
Xg.22133638T>CCA2693306117PHEXn.1078+14T>C
c.1404+14T>C (n.1404+14T>C)
c.648+14T>C (n.648+14T>C)
c.297+14T>C (n.297+14T>C)
c.1113+14T>C (n.1113+14T>C)
n.2083+14T>C
 gnomAD v4
Xg.22133639T>ACA2820020468PHEXn.1078+15T>A
c.1404+15T>A (n.1404+15T>A)
c.648+15T>A (n.648+15T>A)
c.297+15T>A (n.297+15T>A)
c.1113+15T>A (n.1113+15T>A)
n.2083+15T>A
Xg.22133639T>GCA2559908869PHEXn.1078+15T>G
c.1404+15T>G (n.1404+15T>G)
c.648+15T>G (n.648+15T>G)
c.297+15T>G (n.297+15T>G)
c.1113+15T>G (n.1113+15T>G)
n.2083+15T>G
Xg.22133640G>ACA1131562905PHEXn.1078+16G>A
c.1404+16G>A (n.1404+16G>A)
c.648+16G>A (n.648+16G>A)
c.297+16G>A (n.297+16G>A)
c.1113+16G>A (n.1113+16G>A)
n.2083+16G>A
 gnomAD v4
Xg.22133640G>CCA2419181347PHEXn.1078+16G>C
c.1404+16G>C (n.1404+16G>C)
c.648+16G>C (n.648+16G>C)
c.297+16G>C (n.297+16G>C)
c.1113+16G>C (n.1113+16G>C)
n.2083+16G>C
 dbSNP
Xg.22133640G=CA2419181346PHEXn.1078+16G=
c.1404+16G= (n.1404+16G=)
c.648+16G= (n.648+16G=)
c.297+16G= (n.297+16G=)
c.1113+16G= (n.1113+16G=)
n.2083+16G=
Xg.22133641A>GCA2693306118PHEXn.1078+17A>G
c.1404+17A>G (n.1404+17A>G)
c.648+17A>G (n.648+17A>G)
c.297+17A>G (n.297+17A>G)
c.1113+17A>G (n.1113+17A>G)
n.2083+17A>G
 gnomAD v4
Xg.22133642T>ACA10368232PHEXn.1078+18T>A
c.1404+18T>A (n.1404+18T>A)
c.648+18T>A (n.648+18T>A)
c.297+18T>A (n.297+18T>A)
c.1113+18T>A (n.1113+18T>A)
n.2083+18T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.22133642T>CCA2693306119PHEXn.1078+18T>C
c.1404+18T>C (n.1404+18T>C)
c.648+18T>C (n.648+18T>C)
c.297+18T>C (n.297+18T>C)
c.1113+18T>C (n.1113+18T>C)
n.2083+18T>C
 gnomAD v4
Xg.22133642T=CA2419181348PHEXn.1078+18T=
c.1404+18T= (n.1404+18T=)
c.648+18T= (n.648+18T=)
c.297+18T= (n.297+18T=)
c.1113+18T= (n.1113+18T=)
n.2083+18T=
Xg.22133643delCA2693306120PHEXn.1078+19del
c.1404+19del (n.1404+19del)
c.648+19del (n.648+19del)
c.297+19del (n.297+19del)
c.1113+19del (n.1113+19del)
n.2083+19del
 gnomAD v4
Xg.22133643G>ACA2579572204PHEXn.1078+19G>A
c.1404+19G>A (n.1404+19G>A)
c.648+19G>A (n.648+19G>A)
c.297+19G>A (n.297+19G>A)
c.1113+19G>A (n.1113+19G>A)
n.2083+19G>A
 gnomAD v4
Xg.22133643G>CCA2419181351PHEXn.1078+19G>C
c.1404+19G>C (n.1404+19G>C)
c.648+19G>C (n.648+19G>C)
c.297+19G>C (n.297+19G>C)
c.1113+19G>C (n.1113+19G>C)
n.2083+19G>C
 dbSNP gnomAD v4
Xg.22133643G=CA2419181350PHEXn.1078+19G=
c.1404+19G= (n.1404+19G=)
c.648+19G= (n.648+19G=)
c.297+19G= (n.297+19G=)
c.1113+19G= (n.1113+19G=)
n.2083+19G=
Xg.22133643G>TCA2820020469PHEXn.1078+19G>T
c.1404+19G>T (n.1404+19G>T)
c.648+19G>T (n.648+19G>T)
c.297+19G>T (n.297+19G>T)
c.1113+19G>T (n.1113+19G>T)
n.2083+19G>T
Xg.22133643_22133645delinsGAACA2419181349PHEXn.1078+19_1078+21delinsGAA
c.1404+19_1404+21delinsGAA (n.1404+19_1404+21delinsGAA)
c.648+19_648+21delinsGAA (n.648+19_648+21delinsGAA)
c.297+19_297+21delinsGAA (n.297+19_297+21delinsGAA)
c.1113+19_1113+21delinsGAA (n.1113+19_1113+21delinsGAA)
n.2083+19_2083+21delinsGAA

Number of alleles fetched