Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched