Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125468607T>ACA358127831FAT4c.12001T>A (p.Tyr4001Asn)
c.6772T>A (p.Tyr2258Asn)
c.6784T>A (p.Tyr2262Asn)
c.11995T>A (p.Tyr3999Asn)
4g.125468607T>CCA358127832FAT4c.12001T>C (p.Tyr4001His)
c.6772T>C (p.Tyr2258His)
c.6784T>C (p.Tyr2262His)
c.11995T>C (p.Tyr3999His)
gnomAD v4
4g.125468607T>GCA358127834FAT4c.12001T>G (p.Tyr4001Asp)
c.6772T>G (p.Tyr2258Asp)
c.6784T>G (p.Tyr2262Asp)
c.11995T>G (p.Tyr3999Asp)
4g.125468608A>CCA358127837FAT4c.12002A>C (p.Tyr4001Ser)
c.6773A>C (p.Tyr2258Ser)
c.6785A>C (p.Tyr2262Ser)
c.11996A>C (p.Tyr3999Ser)
ClinVar gnomAD v4
4g.125468608A>GCA358127841FAT4c.12002A>G (p.Tyr4001Cys)
c.6773A>G (p.Tyr2258Cys)
c.6785A>G (p.Tyr2262Cys)
c.11996A>G (p.Tyr3999Cys)
4g.125468608A>TCA358127843FAT4c.12002A>T (p.Tyr4001Phe)
c.6773A>T (p.Tyr2258Phe)
c.6785A>T (p.Tyr2262Phe)
c.11996A>T (p.Tyr3999Phe)
4g.125468609T>ACA358127847FAT4c.12003T>A (p.Tyr4001Ter)
c.6774T>A (p.Tyr2258Ter)
c.6786T>A (p.Tyr2262Ter)
c.11997T>A (p.Tyr3999Ter)
4g.125468609T>CCA441372902FAT4c.12003T>C (p.Tyr4001=)
c.6774T>C (p.Tyr2258=)
c.6786T>C (p.Tyr2262=)
c.11997T>C (p.Tyr3999=)
4g.125468609T>GCA358127849FAT4c.12003T>G (p.Tyr4001Ter)
c.6774T>G (p.Tyr2258Ter)
c.6786T>G (p.Tyr2262Ter)
c.11997T>G (p.Tyr3999Ter)
4g.125468610G>ACA358127854FAT4c.12004G>A (p.Val4002Ile)
c.6775G>A (p.Val2259Ile)
c.6787G>A (p.Val2263Ile)
c.11998G>A (p.Val4000Ile)
gnomAD v4
4g.125468610G>CCA358127857FAT4c.12004G>C (p.Val4002Leu)
c.6775G>C (p.Val2259Leu)
c.6787G>C (p.Val2263Leu)
c.11998G>C (p.Val4000Leu)
4g.125468610G>TCA358127860FAT4c.12004G>T (p.Val4002Phe)
c.6775G>T (p.Val2259Phe)
c.6787G>T (p.Val2263Phe)
c.11998G>T (p.Val4000Phe)
4g.125468611T>ACA358127865FAT4c.12005T>A (p.Val4002Asp)
c.6776T>A (p.Val2259Asp)
c.6788T>A (p.Val2263Asp)
c.11999T>A (p.Val4000Asp)
4g.125468611T>CCA358127879FAT4c.12005T>C (p.Val4002Ala)
c.6776T>C (p.Val2259Ala)
c.6788T>C (p.Val2263Ala)
c.11999T>C (p.Val4000Ala)
4g.125468611T>GCA358127876FAT4c.12005T>G (p.Val4002Gly)
c.6776T>G (p.Val2259Gly)
c.6788T>G (p.Val2263Gly)
c.11999T>G (p.Val4000Gly)
dbSNP
4g.125468611T=CA1491662325FAT4c.12005T= (p.Val4002=)
c.6776T= (p.Val2259=)
c.6788T= (p.Val2263=)
c.11999T= (p.Val4000=)
4g.125468612C>ACA441372904FAT4c.12006C>A (p.Val4002=)
c.6777C>A (p.Val2259=)
c.6789C>A (p.Val2263=)
c.12000C>A (p.Val4000=)
4g.125468612C=CA1491662326FAT4c.12006C= (p.Val4002=)
c.6777C= (p.Val2259=)
c.6789C= (p.Val2263=)
c.12000C= (p.Val4000=)
4g.125468612C>GCA441372905FAT4c.12006C>G (p.Val4002=)
c.6777C>G (p.Val2259=)
c.6789C>G (p.Val2263=)
c.12000C>G (p.Val4000=)
4g.125468612C>TCA3073986FAT4c.12006C>T (p.Val4002=)
c.6777C>T (p.Val2259=)
c.6789C>T (p.Val2263=)
c.12000C>T (p.Val4000=)
ClinVar dbSNP ExAC gnomAD v4
4g.125468613A>CCA358127886FAT4c.12007A>C (p.Lys4003Gln)
c.6778A>C (p.Lys2260Gln)
c.6790A>C (p.Lys2264Gln)
c.12001A>C (p.Lys4001Gln)
4g.125468613A>GCA358127890FAT4c.12007A>G (p.Lys4003Glu)
c.6778A>G (p.Lys2260Glu)
c.6790A>G (p.Lys2264Glu)
c.12001A>G (p.Lys4001Glu)
4g.125468613A>TCA358127891FAT4c.12007A>T (p.Lys4003Ter)
c.6778A>T (p.Lys2260Ter)
c.6790A>T (p.Lys2264Ter)
c.12001A>T (p.Lys4001Ter)
4g.125468614A>CCA358127896FAT4c.12008A>C (p.Lys4003Thr)
c.6779A>C (p.Lys2260Thr)
c.6791A>C (p.Lys2264Thr)
c.12002A>C (p.Lys4001Thr)
4g.125468614A>GCA358127898FAT4c.12008A>G (p.Lys4003Arg)
c.6779A>G (p.Lys2260Arg)
c.6791A>G (p.Lys2264Arg)
c.12002A>G (p.Lys4001Arg)
4g.125468614A>TCA358127900FAT4c.12008A>T (p.Lys4003Ile)
c.6779A>T (p.Lys2260Ile)
c.6791A>T (p.Lys2264Ile)
c.12002A>T (p.Lys4001Ile)
4g.125468615A>CCA358127905FAT4c.12009A>C (p.Lys4003Asn)
c.6780A>C (p.Lys2260Asn)
c.6792A>C (p.Lys2264Asn)
c.12003A>C (p.Lys4001Asn)
gnomAD v4
4g.125468615A>GCA441372906FAT4c.12009A>G (p.Lys4003=)
c.6780A>G (p.Lys2260=)
c.6792A>G (p.Lys2264=)
c.12003A>G (p.Lys4001=)
COSMIC COSMIC
4g.125468615A>TCA358127906FAT4c.12009A>T (p.Lys4003Asn)
c.6780A>T (p.Lys2260Asn)
c.6792A>T (p.Lys2264Asn)
c.12003A>T (p.Lys4001Asn)
4g.125468616T>ACA358127912FAT4c.12010T>A (p.Phe4004Ile)
c.6781T>A (p.Phe2261Ile)
c.6793T>A (p.Phe2265Ile)
c.12004T>A (p.Phe4002Ile)
4g.125468616T>CCA358127915FAT4c.12010T>C (p.Phe4004Leu)
c.6781T>C (p.Phe2261Leu)
c.6793T>C (p.Phe2265Leu)
c.12004T>C (p.Phe4002Leu)
dbSNP gnomAD v4
4g.125468616T>GCA358127909FAT4c.12010T>G (p.Phe4004Val)
c.6781T>G (p.Phe2261Val)
c.6793T>G (p.Phe2265Val)
c.12004T>G (p.Phe4002Val)
4g.125468616T=CA1491662327FAT4c.12010T= (p.Phe4004=)
c.6781T= (p.Phe2261=)
c.6793T= (p.Phe2265=)
c.12004T= (p.Phe4002=)
4g.125468617T>ACA358127918FAT4c.12011T>A (p.Phe4004Tyr)
c.6782T>A (p.Phe2261Tyr)
c.6794T>A (p.Phe2265Tyr)
c.12005T>A (p.Phe4002Tyr)
4g.125468617T>CCA358127920FAT4c.12011T>C (p.Phe4004Ser)
c.6782T>C (p.Phe2261Ser)
c.6794T>C (p.Phe2265Ser)
c.12005T>C (p.Phe4002Ser)
4g.125468617T>GCA358127922FAT4c.12011T>G (p.Phe4004Cys)
c.6782T>G (p.Phe2261Cys)
c.6794T>G (p.Phe2265Cys)
c.12005T>G (p.Phe4002Cys)
4g.125468618T>ACA358127924FAT4c.12012T>A (p.Phe4004Leu)
c.6783T>A (p.Phe2261Leu)
c.6795T>A (p.Phe2265Leu)
c.12006T>A (p.Phe4002Leu)
4g.125468618T>CCA441372907FAT4c.12012T>C (p.Phe4004=)
c.6783T>C (p.Phe2261=)
c.6795T>C (p.Phe2265=)
c.12006T>C (p.Phe4002=)
4g.125468618T>GCA358127925FAT4c.12012T>G (p.Phe4004Leu)
c.6783T>G (p.Phe2261Leu)
c.6795T>G (p.Phe2265Leu)
c.12006T>G (p.Phe4002Leu)
4g.125468619G>ACA358127931FAT4c.12013G>A (p.Ala4005Thr)
c.6784G>A (p.Ala2262Thr)
c.6796G>A (p.Ala2266Thr)
c.12007G>A (p.Ala4003Thr)
gnomAD v4
4g.125468619G>CCA358127930FAT4c.12013G>C (p.Ala4005Pro)
c.6784G>C (p.Ala2262Pro)
c.6796G>C (p.Ala2266Pro)
c.12007G>C (p.Ala4003Pro)
4g.125468619G>TCA358127928FAT4c.12013G>T (p.Ala4005Ser)
c.6784G>T (p.Ala2262Ser)
c.6796G>T (p.Ala2266Ser)
c.12007G>T (p.Ala4003Ser)
4g.125468620C>ACA358127934FAT4c.12014C>A (p.Ala4005Asp)
c.6785C>A (p.Ala2262Asp)
c.6797C>A (p.Ala2266Asp)
c.12008C>A (p.Ala4003Asp)
4g.125468620C>GCA358127936FAT4c.12014C>G (p.Ala4005Gly)
c.6785C>G (p.Ala2262Gly)
c.6797C>G (p.Ala2266Gly)
c.12008C>G (p.Ala4003Gly)
4g.125468620C>TCA358127940FAT4c.12014C>T (p.Ala4005Val)
c.6785C>T (p.Ala2262Val)
c.6797C>T (p.Ala2266Val)
c.12008C>T (p.Ala4003Val)
4g.125468621C>ACA441372908FAT4c.12015C>A (p.Ala4005=)
c.6786C>A (p.Ala2262=)
c.6798C>A (p.Ala2266=)
c.12009C>A (p.Ala4003=)
gnomAD v4
4g.125468621C>GCA441372909FAT4c.12015C>G (p.Ala4005=)
c.6786C>G (p.Ala2262=)
c.6798C>G (p.Ala2266=)
c.12009C>G (p.Ala4003=)
4g.125468621C>TCA441372910FAT4c.12015C>T (p.Ala4005=)
c.6786C>T (p.Ala2262=)
c.6798C>T (p.Ala2266=)
c.12009C>T (p.Ala4003=)
4g.125468622A>CCA358127942FAT4c.12016A>C (p.Thr4006Pro)
c.6787A>C (p.Thr2263Pro)
c.6799A>C (p.Thr2267Pro)
c.12010A>C (p.Thr4004Pro)
4g.125468622A>GCA358127945FAT4c.12016A>G (p.Thr4006Ala)
c.6787A>G (p.Thr2263Ala)
c.6799A>G (p.Thr2267Ala)
c.12010A>G (p.Thr4004Ala)
gnomAD v4
4g.125468622A>TCA358127948FAT4c.12016A>T (p.Thr4006Ser)
c.6787A>T (p.Thr2263Ser)
c.6799A>T (p.Thr2267Ser)
c.12010A>T (p.Thr4004Ser)
4g.125468623C>ACA358127952FAT4c.12017C>A (p.Thr4006Lys)
c.6788C>A (p.Thr2263Lys)
c.6800C>A (p.Thr2267Lys)
c.12011C>A (p.Thr4004Lys)
4g.125468623C=CA1491662328FAT4c.12017C= (p.Thr4006=)
c.6788C= (p.Thr2263=)
c.6800C= (p.Thr2267=)
c.12011C= (p.Thr4004=)
4g.125468623C>GCA358127956FAT4c.12017C>G (p.Thr4006Arg)
c.6788C>G (p.Thr2263Arg)
c.6800C>G (p.Thr2267Arg)
c.12011C>G (p.Thr4004Arg)
4g.125468623C>TCA3073987FAT4c.12017C>T (p.Thr4006Met)
c.6788C>T (p.Thr2263Met)
c.6800C>T (p.Thr2267Met)
c.12011C>T (p.Thr4004Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468624G>ACA3073988FAT4c.12018G>A (p.Thr4006=)
c.6789G>A (p.Thr2263=)
c.6801G>A (p.Thr2267=)
c.12012G>A (p.Thr4004=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468624G>CCA441372911FAT4c.12018G>C (p.Thr4006=)
c.6789G>C (p.Thr2263=)
c.6801G>C (p.Thr2267=)
c.12012G>C (p.Thr4004=)
4g.125468624G=CA1491662329FAT4c.12018G= (p.Thr4006=)
c.6789G= (p.Thr2263=)
c.6801G= (p.Thr2267=)
c.12012G= (p.Thr4004=)
4g.125468624G>TCA441372912FAT4c.12018G>T (p.Thr4006=)
c.6789G>T (p.Thr2263=)
c.6801G>T (p.Thr2267=)
c.12012G>T (p.Thr4004=)
gnomAD v4
4g.125468625A=CA1491662330FAT4c.12019A= (p.Ile4007=)
c.6790A= (p.Ile2264=)
c.6802A= (p.Ile2268=)
c.12013A= (p.Ile4005=)
4g.125468625A>CCA358127961FAT4c.12019A>C (p.Ile4007Leu)
c.6790A>C (p.Ile2264Leu)
c.6802A>C (p.Ile2268Leu)
c.12013A>C (p.Ile4005Leu)
gnomAD v4
4g.125468625A>GCA104860334FAT4c.12019A>G (p.Ile4007Val)
c.6790A>G (p.Ile2264Val)
c.6802A>G (p.Ile2268Val)
c.12013A>G (p.Ile4005Val)
ClinVar dbSNP gnomAD v4
4g.125468625A>TCA358127965FAT4c.12019A>T (p.Ile4007Phe)
c.6790A>T (p.Ile2264Phe)
c.6802A>T (p.Ile2268Phe)
c.12013A>T (p.Ile4005Phe)
4g.125468626T>ACA358127968FAT4c.12020T>A (p.Ile4007Asn)
c.6791T>A (p.Ile2264Asn)
c.6803T>A (p.Ile2268Asn)
c.12014T>A (p.Ile4005Asn)
4g.125468626T>CCA358127971FAT4c.12020T>C (p.Ile4007Thr)
c.6791T>C (p.Ile2264Thr)
c.6803T>C (p.Ile2268Thr)
c.12014T>C (p.Ile4005Thr)
4g.125468626T>GCA358127974FAT4c.12020T>G (p.Ile4007Ser)
c.6791T>G (p.Ile2264Ser)
c.6803T>G (p.Ile2268Ser)
c.12014T>G (p.Ile4005Ser)
4g.125468627T>ACA441372913FAT4c.12021T>A (p.Ile4007=)
c.6792T>A (p.Ile2264=)
c.6804T>A (p.Ile2268=)
c.12015T>A (p.Ile4005=)
4g.125468627T>CCA441372914FAT4c.12021T>C (p.Ile4007=)
c.6792T>C (p.Ile2264=)
c.6804T>C (p.Ile2268=)
c.12015T>C (p.Ile4005=)
4g.125468627T>GCA358127977FAT4c.12021T>G (p.Ile4007Met)
c.6792T>G (p.Ile2264Met)
c.6804T>G (p.Ile2268Met)
c.12015T>G (p.Ile4005Met)
dbSNP
4g.125468627T=CA1491662331FAT4c.12021T= (p.Ile4007=)
c.6792T= (p.Ile2264=)
c.6804T= (p.Ile2268=)
c.12015T= (p.Ile4005=)
4g.125468628A=CA1491662332FAT4c.12022A= (p.Lys4008=)
c.6793A= (p.Lys2265=)
c.6805A= (p.Lys2269=)
c.12016A= (p.Lys4006=)
4g.125468628A>CCA358127981FAT4c.12022A>C (p.Lys4008Gln)
c.6793A>C (p.Lys2265Gln)
c.6805A>C (p.Lys2269Gln)
c.12016A>C (p.Lys4006Gln)
4g.125468628A>GCA3073989FAT4c.12022A>G (p.Lys4008Glu)
c.6793A>G (p.Lys2265Glu)
c.6805A>G (p.Lys2269Glu)
c.12016A>G (p.Lys4006Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468628A>TCA358127985FAT4c.12022A>T (p.Lys4008Ter)
c.6793A>T (p.Lys2265Ter)
c.6805A>T (p.Lys2269Ter)
c.12016A>T (p.Lys4006Ter)
4g.125468631dupCA2672013451FAT4c.12025dup (p.Ser4009LysfsTer10)
c.6796dup (p.Ser2266LysfsTer10)
c.6808dup (p.Ser2270LysfsTer10)
c.12019dup (p.Ser4007LysfsTer10)
gnomAD v4
4g.125468629A=CA1491662333FAT4c.12023A= (p.Lys4008=)
c.6794A= (p.Lys2265=)
c.6806A= (p.Lys2269=)
c.12017A= (p.Lys4006=)
4g.125468629A>CCA358127993FAT4c.12023A>C (p.Lys4008Thr)
c.6794A>C (p.Lys2265Thr)
c.6806A>C (p.Lys2269Thr)
c.12017A>C (p.Lys4006Thr)
4g.125468629A>GCA358127991FAT4c.12023A>G (p.Lys4008Arg)
c.6794A>G (p.Lys2265Arg)
c.6806A>G (p.Lys2269Arg)
c.12017A>G (p.Lys4006Arg)
gnomAD v4
4g.125468629A>TCA3073990FAT4c.12023A>T (p.Lys4008Ile)
c.6794A>T (p.Lys2265Ile)
c.6806A>T (p.Lys2269Ile)
c.12017A>T (p.Lys4006Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468630A>CCA358127996FAT4c.12024A>C (p.Lys4008Asn)
c.6795A>C (p.Lys2265Asn)
c.6807A>C (p.Lys2269Asn)
c.12018A>C (p.Lys4006Asn)
4g.125468630A>GCA441372915FAT4c.12024A>G (p.Lys4008=)
c.6795A>G (p.Lys2265=)
c.6807A>G (p.Lys2269=)
c.12018A>G (p.Lys4006=)
4g.125468630A>TCA358127997FAT4c.12024A>T (p.Lys4008Asn)
c.6795A>T (p.Lys2265Asn)
c.6807A>T (p.Lys2269Asn)
c.12018A>T (p.Lys4006Asn)
4g.125468631A=CA1491662334FAT4c.12025A= (p.Ser4009=)
c.6796A= (p.Ser2266=)
c.6808A= (p.Ser2270=)
c.12019A= (p.Ser4007=)
4g.125468631A>CCA358128000FAT4c.12025A>C (p.Ser4009Arg)
c.6796A>C (p.Ser2266Arg)
c.6808A>C (p.Ser2270Arg)
c.12019A>C (p.Ser4007Arg)
4g.125468631A>GCA104860335FAT4c.12025A>G (p.Ser4009Gly)
c.6796A>G (p.Ser2266Gly)
c.6808A>G (p.Ser2270Gly)
c.12019A>G (p.Ser4007Gly)
dbSNP gnomAD v3 gnomAD v4
4g.125468631A>TCA358128002FAT4c.12025A>T (p.Ser4009Cys)
c.6796A>T (p.Ser2266Cys)
c.6808A>T (p.Ser2270Cys)
c.12019A>T (p.Ser4007Cys)
4g.125468632G>ACA358128005FAT4c.12026G>A (p.Ser4009Asn)
c.6797G>A (p.Ser2266Asn)
c.6809G>A (p.Ser2270Asn)
c.12020G>A (p.Ser4007Asn)
dbSNP
4g.125468632G>CCA358128008FAT4c.12026G>C (p.Ser4009Thr)
c.6797G>C (p.Ser2266Thr)
c.6809G>C (p.Ser2270Thr)
c.12020G>C (p.Ser4007Thr)
4g.125468632G=CA1491662335FAT4c.12026G= (p.Ser4009=)
c.6797G= (p.Ser2266=)
c.6809G= (p.Ser2270=)
c.12020G= (p.Ser4007=)
4g.125468632G>TCA358128011FAT4c.12026G>T (p.Ser4009Ile)
c.6797G>T (p.Ser2266Ile)
c.6809G>T (p.Ser2270Ile)
c.12020G>T (p.Ser4007Ile)
4g.125468633T>ACA358128012FAT4c.12027T>A (p.Ser4009Arg)
c.6798T>A (p.Ser2266Arg)
c.6810T>A (p.Ser2270Arg)
c.12021T>A (p.Ser4007Arg)
4g.125468633T>CCA441372919FAT4c.12027T>C (p.Ser4009=)
c.6798T>C (p.Ser2266=)
c.6810T>C (p.Ser2270=)
c.12021T>C (p.Ser4007=)
4g.125468633T>GCA358128014FAT4c.12027T>G (p.Ser4009Arg)
c.6798T>G (p.Ser2266Arg)
c.6810T>G (p.Ser2270Arg)
c.12021T>G (p.Ser4007Arg)
4g.125468634C>ACA358128019FAT4c.12028C>A (p.His4010Asn)
c.6799C>A (p.His2267Asn)
c.6811C>A (p.His2271Asn)
c.12022C>A (p.His4008Asn)
4g.125468634C>GCA358128021FAT4c.12028C>G (p.His4010Asp)
c.6799C>G (p.His2267Asp)
c.6811C>G (p.His2271Asp)
c.12022C>G (p.His4008Asp)
4g.125468634C>TCA358128024FAT4c.12028C>T (p.His4010Tyr)
c.6799C>T (p.His2267Tyr)
c.6811C>T (p.His2271Tyr)
c.12022C>T (p.His4008Tyr)
4g.125468635A=CA1491662336FAT4c.12029A= (p.His4010=)
c.6800A= (p.His2267=)
c.6812A= (p.His2271=)
c.12023A= (p.His4008=)
4g.125468635A>CCA3073991FAT4c.12029A>C (p.His4010Pro)
c.6800A>C (p.His2267Pro)
c.6812A>C (p.His2271Pro)
c.12023A>C (p.His4008Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468635A>GCA358128029FAT4c.12029A>G (p.His4010Arg)
c.6800A>G (p.His2267Arg)
c.6812A>G (p.His2271Arg)
c.12023A>G (p.His4008Arg)
ClinVar dbSNP gnomAD v4
4g.125468635A>TCA358128027FAT4c.12029A>T (p.His4010Leu)
c.6800A>T (p.His2267Leu)
c.6812A>T (p.His2271Leu)
c.12023A>T (p.His4008Leu)
gnomAD v4
4g.125468636T>ACA358128034FAT4c.12030T>A (p.His4010Gln)
c.6801T>A (p.His2267Gln)
c.6813T>A (p.His2271Gln)
c.12024T>A (p.His4008Gln)
4g.125468636T>CCA441372923FAT4c.12030T>C (p.His4010=)
c.6801T>C (p.His2267=)
c.6813T>C (p.His2271=)
c.12024T>C (p.His4008=)
dbSNP
4g.125468636T>GCA358128036FAT4c.12030T>G (p.His4010Gln)
c.6801T>G (p.His2267Gln)
c.6813T>G (p.His2271Gln)
c.12024T>G (p.His4008Gln)
4g.125468636T=CA1491662337FAT4c.12030T= (p.His4010=)
c.6801T= (p.His2267=)
c.6813T= (p.His2271=)
c.12024T= (p.His4008=)
4g.125468637G>ACA3073992FAT4c.12031G>A (p.Ala4011Thr)
c.6802G>A (p.Ala2268Thr)
c.6814G>A (p.Ala2272Thr)
c.12025G>A (p.Ala4009Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468637G>CCA358128041FAT4c.12031G>C (p.Ala4011Pro)
c.6802G>C (p.Ala2268Pro)
c.6814G>C (p.Ala2272Pro)
c.12025G>C (p.Ala4009Pro)
4g.125468637G=CA1491662338FAT4c.12031G= (p.Ala4011=)
c.6802G= (p.Ala2268=)
c.6814G= (p.Ala2272=)
c.12025G= (p.Ala4009=)
4g.125468637G>TCA358128044FAT4c.12031G>T (p.Ala4011Ser)
c.6802G>T (p.Ala2268Ser)
c.6814G>T (p.Ala2272Ser)
c.12025G>T (p.Ala4009Ser)
dbSNP gnomAD v2 gnomAD v4
4g.125468638C>ACA358128048FAT4c.12032C>A (p.Ala4011Asp)
c.6803C>A (p.Ala2268Asp)
c.6815C>A (p.Ala2272Asp)
c.12026C>A (p.Ala4009Asp)
dbSNP
4g.125468638C=CA1491662339FAT4c.12032C= (p.Ala4011=)
c.6803C= (p.Ala2268=)
c.6815C= (p.Ala2272=)
c.12026C= (p.Ala4009=)
4g.125468638C>GCA358128051FAT4c.12032C>G (p.Ala4011Gly)
c.6803C>G (p.Ala2268Gly)
c.6815C>G (p.Ala2272Gly)
c.12026C>G (p.Ala4009Gly)
4g.125468638C>TCA3073993FAT4c.12032C>T (p.Ala4011Val)
c.6803C>T (p.Ala2268Val)
c.6815C>T (p.Ala2272Val)
c.12026C>T (p.Ala4009Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468639C>ACA441372926FAT4c.12033C>A (p.Ala4011=)
c.6804C>A (p.Ala2268=)
c.6816C>A (p.Ala2272=)
c.12027C>A (p.Ala4009=)
4g.125468639C=CA1491662340FAT4c.12033C= (p.Ala4011=)
c.6804C= (p.Ala2268=)
c.6816C= (p.Ala2272=)
c.12027C= (p.Ala4009=)
4g.125468639C>GCA441372929FAT4c.12033C>G (p.Ala4011=)
c.6804C>G (p.Ala2268=)
c.6816C>G (p.Ala2272=)
c.12027C>G (p.Ala4009=)
4g.125468639C>TCA441372927FAT4c.12033C>T (p.Ala4011=)
c.6804C>T (p.Ala2268=)
c.6816C>T (p.Ala2272=)
c.12027C>T (p.Ala4009=)
dbSNP gnomAD v4
4g.125468640T>ACA3073994FAT4c.12034T>A (p.Leu4012Ile)
c.6805T>A (p.Leu2269Ile)
c.6817T>A (p.Leu2273Ile)
c.12028T>A (p.Leu4010Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468640T>CCA441372930FAT4c.12034T>C (p.Leu4012=)
c.6805T>C (p.Leu2269=)
c.6817T>C (p.Leu2273=)
c.12028T>C (p.Leu4010=)
4g.125468640T>GCA358128053FAT4c.12034T>G (p.Leu4012Val)
c.6805T>G (p.Leu2269Val)
c.6817T>G (p.Leu2273Val)
c.12028T>G (p.Leu4010Val)
4g.125468640T=CA1491662341FAT4c.12034T= (p.Leu4012=)
c.6805T= (p.Leu2269=)
c.6817T= (p.Leu2273=)
c.12028T= (p.Leu4010=)
4g.125468641T>ACA358128058FAT4c.12035T>A (p.Leu4012Ter)
c.6806T>A (p.Leu2269Ter)
c.6818T>A (p.Leu2273Ter)
c.12029T>A (p.Leu4010Ter)
4g.125468641T>CCA3073995FAT4c.12035T>C (p.Leu4012Ser)
c.6806T>C (p.Leu2269Ser)
c.6818T>C (p.Leu2273Ser)
c.12029T>C (p.Leu4010Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468641T>GCA358128062FAT4c.12035T>G (p.Leu4012Ter)
c.6806T>G (p.Leu2269Ter)
c.6818T>G (p.Leu2273Ter)
c.12029T>G (p.Leu4010Ter)
gnomAD v4
4g.125468641T=CA1491662342FAT4c.12035T= (p.Leu4012=)
c.6806T= (p.Leu2269=)
c.6818T= (p.Leu2273=)
c.12029T= (p.Leu4010=)
4g.125468642A=CA1491662343FAT4c.12036A= (p.Leu4012=)
c.6807A= (p.Leu2269=)
c.6819A= (p.Leu2273=)
c.12030A= (p.Leu4010=)
4g.125468642A>CCA3073996FAT4c.12036A>C (p.Leu4012Phe)
c.6807A>C (p.Leu2269Phe)
c.6819A>C (p.Leu2273Phe)
c.12030A>C (p.Leu4010Phe)
dbSNP ExAC gnomAD v2
4g.125468642A>GCA441372932FAT4c.12036A>G (p.Leu4012=)
c.6807A>G (p.Leu2269=)
c.6819A>G (p.Leu2273=)
c.12030A>G (p.Leu4010=)
dbSNP gnomAD v4
4g.125468642A>TCA358128066FAT4c.12036A>T (p.Leu4012Phe)
c.6807A>T (p.Leu2269Phe)
c.6819A>T (p.Leu2273Phe)
c.12030A>T (p.Leu4010Phe)
gnomAD v4
4g.125468643T>ACA358128072FAT4c.12037T>A (p.Leu4013Met)
c.6808T>A (p.Leu2270Met)
c.6820T>A (p.Leu2274Met)
c.12031T>A (p.Leu4011Met)
4g.125468643T>CCA441372933FAT4c.12037T>C (p.Leu4013=)
c.6808T>C (p.Leu2270=)
c.6820T>C (p.Leu2274=)
c.12031T>C (p.Leu4011=)
ClinVar gnomAD v4
4g.125468643T>GCA358128076FAT4c.12037T>G (p.Leu4013Val)
c.6808T>G (p.Leu2270Val)
c.6820T>G (p.Leu2274Val)
c.12031T>G (p.Leu4011Val)
4g.125468644T>ACA358128078FAT4c.12038T>A (p.Leu4013Ter)
c.6809T>A (p.Leu2270Ter)
c.6821T>A (p.Leu2274Ter)
c.12032T>A (p.Leu4011Ter)
gnomAD v4
4g.125468644T>CCA358128080FAT4c.12038T>C (p.Leu4013Ser)
c.6809T>C (p.Leu2270Ser)
c.6821T>C (p.Leu2274Ser)
c.12032T>C (p.Leu4011Ser)
4g.125468644T>GCA358128082FAT4c.12038T>G (p.Leu4013Trp)
c.6809T>G (p.Leu2270Trp)
c.6821T>G (p.Leu2274Trp)
c.12032T>G (p.Leu4011Trp)
4g.125468645G>ACA441372936FAT4c.12039G>A (p.Leu4013=)
c.6810G>A (p.Leu2270=)
c.6822G>A (p.Leu2274=)
c.12033G>A (p.Leu4011=)
4g.125468645G>CCA358128085FAT4c.12039G>C (p.Leu4013Phe)
c.6810G>C (p.Leu2270Phe)
c.6822G>C (p.Leu2274Phe)
c.12033G>C (p.Leu4011Phe)
COSMIC COSMIC
4g.125468645G=CA1491662344FAT4c.12039G= (p.Leu4013=)
c.6810G= (p.Leu2270=)
c.6822G= (p.Leu2274=)
c.12033G= (p.Leu4011=)
4g.125468645G>TCA3073997FAT4c.12039G>T (p.Leu4013Phe)
c.6810G>T (p.Leu2270Phe)
c.6822G>T (p.Leu2274Phe)
c.12033G>T (p.Leu4011Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468645_125468646delinsCACA645528127FAT4c.12039_12040delinsCA (p.Leu4013_Leu4014delinsPheIle)
c.6810_6811delinsCA (p.Leu2270_Leu2271delinsPheIle)
c.6822_6823delinsCA (p.Leu2274_Leu2275delinsPheIle)
c.12033_12034delinsCA (p.Leu4011_Leu4012delinsPheIle)
COSMIC COSMIC
4g.125468646C>ACA358128092FAT4c.12040C>A (p.Leu4014Ile)
c.6811C>A (p.Leu2271Ile)
c.6823C>A (p.Leu2275Ile)
c.12034C>A (p.Leu4012Ile)
COSMIC COSMIC
4g.125468646C>GCA358128096FAT4c.12040C>G (p.Leu4014Val)
c.6811C>G (p.Leu2271Val)
c.6823C>G (p.Leu2275Val)
c.12034C>G (p.Leu4012Val)
4g.125468646C>TCA358128099FAT4c.12040C>T (p.Leu4014Phe)
c.6811C>T (p.Leu2271Phe)
c.6823C>T (p.Leu2275Phe)
c.12034C>T (p.Leu4012Phe)
4g.125468647T>ACA358128102FAT4c.12041T>A (p.Leu4014His)
c.6812T>A (p.Leu2271His)
c.6824T>A (p.Leu2275His)
c.12035T>A (p.Leu4012His)
4g.125468647T>CCA358128105FAT4c.12041T>C (p.Leu4014Pro)
c.6812T>C (p.Leu2271Pro)
c.6824T>C (p.Leu2275Pro)
c.12035T>C (p.Leu4012Pro)
4g.125468647T>GCA358128107FAT4c.12041T>G (p.Leu4014Arg)
c.6812T>G (p.Leu2271Arg)
c.6824T>G (p.Leu2275Arg)
c.12035T>G (p.Leu4012Arg)
4g.125468648T>ACA441372942FAT4c.12042T>A (p.Leu4014=)
c.6813T>A (p.Leu2271=)
c.6825T>A (p.Leu2275=)
c.12036T>A (p.Leu4012=)
4g.125468648T>CCA441372943FAT4c.12042T>C (p.Leu4014=)
c.6813T>C (p.Leu2271=)
c.6825T>C (p.Leu2275=)
c.12036T>C (p.Leu4012=)
4g.125468648T>GCA441372944FAT4c.12042T>G (p.Leu4014=)
c.6813T>G (p.Leu2271=)
c.6825T>G (p.Leu2275=)
c.12036T>G (p.Leu4012=)
4g.125468649T>ACA358128113FAT4c.12043T>A (p.Tyr4015Asn)
c.6814T>A (p.Tyr2272Asn)
c.6826T>A (p.Tyr2276Asn)
c.12037T>A (p.Tyr4013Asn)
4g.125468649T>CCA358128115FAT4c.12043T>C (p.Tyr4015His)
c.6814T>C (p.Tyr2272His)
c.6826T>C (p.Tyr2276His)
c.12037T>C (p.Tyr4013His)
ClinVar dbSNP gnomAD v4
4g.125468649T>GCA358128110FAT4c.12043T>G (p.Tyr4015Asp)
c.6814T>G (p.Tyr2272Asp)
c.6826T>G (p.Tyr2276Asp)
c.12037T>G (p.Tyr4013Asp)
4g.125468650A>CCA358128119FAT4c.12044A>C (p.Tyr4015Ser)
c.6815A>C (p.Tyr2272Ser)
c.6827A>C (p.Tyr2276Ser)
c.12038A>C (p.Tyr4013Ser)
4g.125468650A>GCA358128122FAT4c.12044A>G (p.Tyr4015Cys)
c.6815A>G (p.Tyr2272Cys)
c.6827A>G (p.Tyr2276Cys)
c.12038A>G (p.Tyr4013Cys)
4g.125468650A>TCA358128124FAT4c.12044A>T (p.Tyr4015Phe)
c.6815A>T (p.Tyr2272Phe)
c.6827A>T (p.Tyr2276Phe)
c.12038A>T (p.Tyr4013Phe)
4g.125468651C>ACA358128127FAT4c.12045C>A (p.Tyr4015Ter)
c.6816C>A (p.Tyr2272Ter)
c.6828C>A (p.Tyr2276Ter)
c.12039C>A (p.Tyr4013Ter)
4g.125468651C=CA1491662345FAT4c.12045C= (p.Tyr4015=)
c.6816C= (p.Tyr2272=)
c.6828C= (p.Tyr2276=)
c.12039C= (p.Tyr4013=)
4g.125468651C>GCA358128129FAT4c.12045C>G (p.Tyr4015Ter)
c.6816C>G (p.Tyr2272Ter)
c.6828C>G (p.Tyr2276Ter)
c.12039C>G (p.Tyr4013Ter)
4g.125468651C>TCA104860369FAT4c.12045C>T (p.Tyr4015=)
c.6816C>T (p.Tyr2272=)
c.6828C>T (p.Tyr2276=)
c.12039C>T (p.Tyr4013=)
ClinVar dbSNP gnomAD v4
4g.125468652A=CA1491662346FAT4c.12046A= (p.Asn4016=)
c.6817A= (p.Asn2273=)
c.6829A= (p.Asn2277=)
c.12040A= (p.Asn4014=)
4g.125468652A>CCA358128136FAT4c.12046A>C (p.Asn4016His)
c.6817A>C (p.Asn2273His)
c.6829A>C (p.Asn2277His)
c.12040A>C (p.Asn4014His)
dbSNP gnomAD v2 gnomAD v4
4g.125468652A>GCA358128132FAT4c.12046A>G (p.Asn4016Asp)
c.6817A>G (p.Asn2273Asp)
c.6829A>G (p.Asn2277Asp)
c.12040A>G (p.Asn4014Asp)
4g.125468652A>TCA358128134FAT4c.12046A>T (p.Asn4016Tyr)
c.6817A>T (p.Asn2273Tyr)
c.6829A>T (p.Asn2277Tyr)
c.12040A>T (p.Asn4014Tyr)
4g.125468653A>CCA358128138FAT4c.12047A>C (p.Asn4016Thr)
c.6818A>C (p.Asn2273Thr)
c.6830A>C (p.Asn2277Thr)
c.12041A>C (p.Asn4014Thr)
4g.125468653A>GCA358128141FAT4c.12047A>G (p.Asn4016Ser)
c.6818A>G (p.Asn2273Ser)
c.6830A>G (p.Asn2277Ser)
c.12041A>G (p.Asn4014Ser)
gnomAD v4
4g.125468653A>TCA358128144FAT4c.12047A>T (p.Asn4016Ile)
c.6818A>T (p.Asn2273Ile)
c.6830A>T (p.Asn2277Ile)
c.12041A>T (p.Asn4014Ile)
4g.125468654C>ACA358128147FAT4c.12048C>A (p.Asn4016Lys)
c.6819C>A (p.Asn2273Lys)
c.6831C>A (p.Asn2277Lys)
c.12042C>A (p.Asn4014Lys)
4g.125468654C>GCA358128153FAT4c.12048C>G (p.Asn4016Lys)
c.6819C>G (p.Asn2273Lys)
c.6831C>G (p.Asn2277Lys)
c.12042C>G (p.Asn4014Lys)
4g.125468654C>TCA441372949FAT4c.12048C>T (p.Asn4016=)
c.6819C>T (p.Asn2273=)
c.6831C>T (p.Asn2277=)
c.12042C>T (p.Asn4014=)
4g.125468655T>ACA358128157FAT4c.12049T>A (p.Tyr4017Asn)
c.6820T>A (p.Tyr2274Asn)
c.6832T>A (p.Tyr2278Asn)
c.12043T>A (p.Tyr4015Asn)
4g.125468655T>CCA358128162FAT4c.12049T>C (p.Tyr4017His)
c.6820T>C (p.Tyr2274His)
c.6832T>C (p.Tyr2278His)
c.12043T>C (p.Tyr4015His)
4g.125468655T>GCA358128159FAT4c.12049T>G (p.Tyr4017Asp)
c.6820T>G (p.Tyr2274Asp)
c.6832T>G (p.Tyr2278Asp)
c.12043T>G (p.Tyr4015Asp)
4g.125468656A=CA1491662347FAT4c.12050A= (p.Tyr4017=)
c.6821A= (p.Tyr2274=)
c.6833A= (p.Tyr2278=)
c.12044A= (p.Tyr4015=)
4g.125468656A>CCA358128165FAT4c.12050A>C (p.Tyr4017Ser)
c.6821A>C (p.Tyr2274Ser)
c.6833A>C (p.Tyr2278Ser)
c.12044A>C (p.Tyr4015Ser)
4g.125468656A>GCA358128171FAT4c.12050A>G (p.Tyr4017Cys)
c.6821A>G (p.Tyr2274Cys)
c.6833A>G (p.Tyr2278Cys)
c.12044A>G (p.Tyr4015Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468656A>TCA358128168FAT4c.12050A>T (p.Tyr4017Phe)
c.6821A>T (p.Tyr2274Phe)
c.6833A>T (p.Tyr2278Phe)
c.12044A>T (p.Tyr4015Phe)
4g.125468657T>ACA358128174FAT4c.12051T>A (p.Tyr4017Ter)
c.6822T>A (p.Tyr2274Ter)
c.6834T>A (p.Tyr2278Ter)
c.12045T>A (p.Tyr4015Ter)
4g.125468657T>CCA3073998FAT4c.12051T>C (p.Tyr4017=)
c.6822T>C (p.Tyr2274=)
c.6834T>C (p.Tyr2278=)
c.12045T>C (p.Tyr4015=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468657T>GCA358128178FAT4c.12051T>G (p.Tyr4017Ter)
c.6822T>G (p.Tyr2274Ter)
c.6834T>G (p.Tyr2278Ter)
c.12045T>G (p.Tyr4015Ter)
4g.125468657T=CA1491662348FAT4c.12051T= (p.Tyr4017=)
c.6822T= (p.Tyr2274=)
c.6834T= (p.Tyr2278=)
c.12045T= (p.Tyr4015=)
4g.125468658G>ACA358128183FAT4c.12052G>A (p.Asp4018Asn)
c.6823G>A (p.Asp2275Asn)
c.6835G>A (p.Asp2279Asn)
c.12046G>A (p.Asp4016Asn)
4g.125468658G>CCA358128185FAT4c.12052G>C (p.Asp4018His)
c.6823G>C (p.Asp2275His)
c.6835G>C (p.Asp2279His)
c.12046G>C (p.Asp4016His)
4g.125468658G>TCA358128187FAT4c.12052G>T (p.Asp4018Tyr)
c.6823G>T (p.Asp2275Tyr)
c.6835G>T (p.Asp2279Tyr)
c.12046G>T (p.Asp4016Tyr)
4g.125468659A>CCA358128191FAT4c.12053A>C (p.Asp4018Ala)
c.6824A>C (p.Asp2275Ala)
c.6836A>C (p.Asp2279Ala)
c.12047A>C (p.Asp4016Ala)
4g.125468659A>GCA358128194FAT4c.12053A>G (p.Asp4018Gly)
c.6824A>G (p.Asp2275Gly)
c.6836A>G (p.Asp2279Gly)
c.12047A>G (p.Asp4016Gly)
4g.125468659A>TCA358128195FAT4c.12053A>T (p.Asp4018Val)
c.6824A>T (p.Asp2275Val)
c.6836A>T (p.Asp2279Val)
c.12047A>T (p.Asp4016Val)
4g.125468660C>ACA358128197FAT4c.12054C>A (p.Asp4018Glu)
c.6825C>A (p.Asp2275Glu)
c.6837C>A (p.Asp2279Glu)
c.12048C>A (p.Asp4016Glu)
4g.125468660C=CA1491662349FAT4c.12054C= (p.Asp4018=)
c.6825C= (p.Asp2275=)
c.6837C= (p.Asp2279=)
c.12048C= (p.Asp4016=)
4g.125468660C>GCA358128200FAT4c.12054C>G (p.Asp4018Glu)
c.6825C>G (p.Asp2275Glu)
c.6837C>G (p.Asp2279Glu)
c.12048C>G (p.Asp4016Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468660C>TCA441372955FAT4c.12054C>T (p.Asp4018=)
c.6825C>T (p.Asp2275=)
c.6837C>T (p.Asp2279=)
c.12048C>T (p.Asp4016=)
gnomAD v4
4g.125468661A>CCA358128209FAT4c.12055A>C (p.Asn4019His)
c.6826A>C (p.Asn2276His)
c.6838A>C (p.Asn2280His)
c.12049A>C (p.Asn4017His)
4g.125468661A>GCA358128206FAT4c.12055A>G (p.Asn4019Asp)
c.6826A>G (p.Asn2276Asp)
c.6838A>G (p.Asn2280Asp)
c.12049A>G (p.Asn4017Asp)
4g.125468661A>TCA358128204FAT4c.12055A>T (p.Asn4019Tyr)
c.6826A>T (p.Asn2276Tyr)
c.6838A>T (p.Asn2280Tyr)
c.12049A>T (p.Asn4017Tyr)
4g.125468662A=CA1491662350FAT4c.12056A= (p.Asn4019=)
c.6827A= (p.Asn2276=)
c.6839A= (p.Asn2280=)
c.12050A= (p.Asn4017=)
4g.125468662A>CCA358128213FAT4c.12056A>C (p.Asn4019Thr)
c.6827A>C (p.Asn2276Thr)
c.6839A>C (p.Asn2280Thr)
c.12050A>C (p.Asn4017Thr)
4g.125468662A>GCA358128214FAT4c.12056A>G (p.Asn4019Ser)
c.6827A>G (p.Asn2276Ser)
c.6839A>G (p.Asn2280Ser)
c.12050A>G (p.Asn4017Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468662A>TCA358128218FAT4c.12056A>T (p.Asn4019Ile)
c.6827A>T (p.Asn2276Ile)
c.6839A>T (p.Asn2280Ile)
c.12050A>T (p.Asn4017Ile)
4g.125468663C>ACA358128221FAT4c.12057C>A (p.Asn4019Lys)
c.6828C>A (p.Asn2276Lys)
c.6840C>A (p.Asn2280Lys)
c.12051C>A (p.Asn4017Lys)
4g.125468663C>GCA358128223FAT4c.12057C>G (p.Asn4019Lys)
c.6828C>G (p.Asn2276Lys)
c.6840C>G (p.Asn2280Lys)
c.12051C>G (p.Asn4017Lys)
gnomAD v4
4g.125468663C>TCA441372957FAT4c.12057C>T (p.Asn4019=)
c.6828C>T (p.Asn2276=)
c.6840C>T (p.Asn2280=)
c.12051C>T (p.Asn4017=)
gnomAD v4
4g.125468664C>ACA358128228FAT4c.12058C>A (p.Gln4020Lys)
c.6829C>A (p.Gln2277Lys)
c.6841C>A (p.Gln2281Lys)
c.12052C>A (p.Gln4018Lys)
4g.125468664C>GCA358128229FAT4c.12058C>G (p.Gln4020Glu)
c.6829C>G (p.Gln2277Glu)
c.6841C>G (p.Gln2281Glu)
c.12052C>G (p.Gln4018Glu)
4g.125468664C>TCA358128232FAT4c.12058C>T (p.Gln4020Ter)
c.6829C>T (p.Gln2277Ter)
c.6841C>T (p.Gln2281Ter)
c.12052C>T (p.Gln4018Ter)
4g.125468665A>CCA358128235FAT4c.12059A>C (p.Gln4020Pro)
c.6830A>C (p.Gln2277Pro)
c.6842A>C (p.Gln2281Pro)
c.12053A>C (p.Gln4018Pro)
4g.125468665A>GCA358128237FAT4c.12059A>G (p.Gln4020Arg)
c.6830A>G (p.Gln2277Arg)
c.6842A>G (p.Gln2281Arg)
c.12053A>G (p.Gln4018Arg)
COSMIC COSMIC COSMIC
4g.125468665A>TCA358128239FAT4c.12059A>T (p.Gln4020Leu)
c.6830A>T (p.Gln2277Leu)
c.6842A>T (p.Gln2281Leu)
c.12053A>T (p.Gln4018Leu)
4g.125468666G>ACA441372969FAT4c.12060G>A (p.Gln4020=)
c.6831G>A (p.Gln2277=)
c.6843G>A (p.Gln2281=)
c.12054G>A (p.Gln4018=)
4g.125468666G>CCA358128242FAT4c.12060G>C (p.Gln4020His)
c.6831G>C (p.Gln2277His)
c.6843G>C (p.Gln2281His)
c.12054G>C (p.Gln4018His)
gnomAD v4
4g.125468666G>TCA358128245FAT4c.12060G>T (p.Gln4020His)
c.6831G>T (p.Gln2277His)
c.6843G>T (p.Gln2281His)
c.12054G>T (p.Gln4018His)
4g.125468667A>CCA358128253FAT4c.12061A>C (p.Thr4021Pro)
c.6832A>C (p.Thr2278Pro)
c.6844A>C (p.Thr2282Pro)
c.12055A>C (p.Thr4019Pro)
4g.125468667A>GCA358128251FAT4c.12061A>G (p.Thr4021Ala)
c.6832A>G (p.Thr2278Ala)
c.6844A>G (p.Thr2282Ala)
c.12055A>G (p.Thr4019Ala)
4g.125468667A>TCA358128248FAT4c.12061A>T (p.Thr4021Ser)
c.6832A>T (p.Thr2278Ser)
c.6844A>T (p.Thr2282Ser)
c.12055A>T (p.Thr4019Ser)
4g.125468668C>ACA358128262FAT4c.12062C>A (p.Thr4021Lys)
c.6833C>A (p.Thr2278Lys)
c.6845C>A (p.Thr2282Lys)
c.12056C>A (p.Thr4019Lys)
4g.125468668C=CA1491662351FAT4c.12062C= (p.Thr4021=)
c.6833C= (p.Thr2278=)
c.6845C= (p.Thr2282=)
c.12056C= (p.Thr4019=)
4g.125468668C>GCA104860371FAT4c.12062C>G (p.Thr4021Arg)
c.6833C>G (p.Thr2278Arg)
c.6845C>G (p.Thr2282Arg)
c.12056C>G (p.Thr4019Arg)
dbSNP gnomAD v4
4g.125468668C>TCA358128259FAT4c.12062C>T (p.Thr4021Ile)
c.6833C>T (p.Thr2278Ile)
c.6845C>T (p.Thr2282Ile)
c.12056C>T (p.Thr4019Ile)
4g.125468669A>CCA441372970FAT4c.12063A>C (p.Thr4021=)
c.6834A>C (p.Thr2278=)
c.6846A>C (p.Thr2282=)
c.12057A>C (p.Thr4019=)
4g.125468669A>GCA441372971FAT4c.12063A>G (p.Thr4021=)
c.6834A>G (p.Thr2278=)
c.6846A>G (p.Thr2282=)
c.12057A>G (p.Thr4019=)
4g.125468669A>TCA441372972FAT4c.12063A>T (p.Thr4021=)
c.6834A>T (p.Thr2278=)
c.6846A>T (p.Thr2282=)
c.12057A>T (p.Thr4019=)
4g.125468670G>ACA358128265FAT4c.12064G>A (p.Gly4022Ser)
c.6835G>A (p.Gly2279Ser)
c.6847G>A (p.Gly2283Ser)
c.12058G>A (p.Gly4020Ser)
4g.125468670G>CCA358128268FAT4c.12064G>C (p.Gly4022Arg)
c.6835G>C (p.Gly2279Arg)
c.6847G>C (p.Gly2283Arg)
c.12058G>C (p.Gly4020Arg)
gnomAD v4
4g.125468670G>TCA358128270FAT4c.12064G>T (p.Gly4022Cys)
c.6835G>T (p.Gly2279Cys)
c.6847G>T (p.Gly2283Cys)
c.12058G>T (p.Gly4020Cys)
4g.125468671G>ACA358128272FAT4c.12065G>A (p.Gly4022Asp)
c.6836G>A (p.Gly2279Asp)
c.6848G>A (p.Gly2283Asp)
c.12059G>A (p.Gly4020Asp)
4g.125468671G>CCA358128274FAT4c.12065G>C (p.Gly4022Ala)
c.6836G>C (p.Gly2279Ala)
c.6848G>C (p.Gly2283Ala)
c.12059G>C (p.Gly4020Ala)
4g.125468671G=CA1491662352FAT4c.12065G= (p.Gly4022=)
c.6836G= (p.Gly2279=)
c.6848G= (p.Gly2283=)
c.12059G= (p.Gly4020=)
4g.125468671G>TCA358128277FAT4c.12065G>T (p.Gly4022Val)
c.6836G>T (p.Gly2279Val)
c.6848G>T (p.Gly2283Val)
c.12059G>T (p.Gly4020Val)
dbSNP gnomAD v2 gnomAD v4
4g.125468672C>ACA441372973FAT4c.12066C>A (p.Gly4022=)
c.6837C>A (p.Gly2279=)
c.6849C>A (p.Gly2283=)
c.12060C>A (p.Gly4020=)
4g.125468672C=CA1491662353FAT4c.12066C= (p.Gly4022=)
c.6837C= (p.Gly2279=)
c.6849C= (p.Gly2283=)
c.12060C= (p.Gly4020=)
4g.125468672C>GCA441372974FAT4c.12066C>G (p.Gly4022=)
c.6837C>G (p.Gly2279=)
c.6849C>G (p.Gly2283=)
c.12060C>G (p.Gly4020=)
4g.125468672C>TCA3073999FAT4c.12066C>T (p.Gly4022=)
c.6837C>T (p.Gly2279=)
c.6849C>T (p.Gly2283=)
c.12060C>T (p.Gly4020=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468673G>ACA3074000FAT4c.12067G>A (p.Asp4023Asn)
c.6838G>A (p.Asp2280Asn)
c.6850G>A (p.Asp2284Asn)
c.12061G>A (p.Asp4021Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
4g.125468673G>CCA358128286FAT4c.12067G>C (p.Asp4023His)
c.6838G>C (p.Asp2280His)
c.6850G>C (p.Asp2284His)
c.12061G>C (p.Asp4021His)
4g.125468673G=CA1491662354FAT4c.12067G= (p.Asp4023=)
c.6838G= (p.Asp2280=)
c.6850G= (p.Asp2284=)
c.12061G= (p.Asp4021=)
4g.125468673G>TCA358128289FAT4c.12067G>T (p.Asp4023Tyr)
c.6838G>T (p.Asp2280Tyr)
c.6850G>T (p.Asp2284Tyr)
c.12061G>T (p.Asp4021Tyr)
4g.125468674A>CCA358128294FAT4c.12068A>C (p.Asp4023Ala)
c.6839A>C (p.Asp2280Ala)
c.6851A>C (p.Asp2284Ala)
c.12062A>C (p.Asp4021Ala)
4g.125468674A>GCA358128297FAT4c.12068A>G (p.Asp4023Gly)
c.6839A>G (p.Asp2280Gly)
c.6851A>G (p.Asp2284Gly)
c.12062A>G (p.Asp4021Gly)
COSMIC COSMIC
4g.125468674A>TCA358128291FAT4c.12068A>T (p.Asp4023Val)
c.6839A>T (p.Asp2280Val)
c.6851A>T (p.Asp2284Val)
c.12062A>T (p.Asp4021Val)
COSMIC COSMIC
4g.125468675C>ACA358128301FAT4c.12069C>A (p.Asp4023Glu)
c.6840C>A (p.Asp2280Glu)
c.6852C>A (p.Asp2284Glu)
c.12063C>A (p.Asp4021Glu)
4g.125468675C=CA1491662355FAT4c.12069C= (p.Asp4023=)
c.6840C= (p.Asp2280=)
c.6852C= (p.Asp2284=)
c.12063C= (p.Asp4021=)
4g.125468675C>GCA358128304FAT4c.12069C>G (p.Asp4023Glu)
c.6840C>G (p.Asp2280Glu)
c.6852C>G (p.Asp2284Glu)
c.12063C>G (p.Asp4021Glu)
dbSNP gnomAD v3 gnomAD v4
4g.125468675C>TCA3074001FAT4c.12069C>T (p.Asp4023=)
c.6840C>T (p.Asp2280=)
c.6852C>T (p.Asp2284=)
c.12063C>T (p.Asp4021=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468676C>ACA441372975FAT4c.12070C>A (p.Arg4024=)
c.6841C>A (p.Arg2281=)
c.6853C>A (p.Arg2285=)
c.12064C>A (p.Arg4022=)
dbSNP gnomAD v2 gnomAD v4
4g.125468676C=CA1491662356FAT4c.12070C= (p.Arg4024=)
c.6841C= (p.Arg2281=)
c.6853C= (p.Arg2285=)
c.12064C= (p.Arg4022=)
4g.125468676C>GCA358128309FAT4c.12070C>G (p.Arg4024Gly)
c.6841C>G (p.Arg2281Gly)
c.6853C>G (p.Arg2285Gly)
c.12064C>G (p.Arg4022Gly)
4g.125468676C>TCA3074002FAT4c.12070C>T (p.Arg4024Trp)
c.6841C>T (p.Arg2281Trp)
c.6853C>T (p.Arg2285Trp)
c.12064C>T (p.Arg4022Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468677G>ACA3074003FAT4c.12071G>A (p.Arg4024Gln)
c.6842G>A (p.Arg2281Gln)
c.6854G>A (p.Arg2285Gln)
c.12065G>A (p.Arg4022Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468677G>CCA358128314FAT4c.12071G>C (p.Arg4024Pro)
c.6842G>C (p.Arg2281Pro)
c.6854G>C (p.Arg2285Pro)
c.12065G>C (p.Arg4022Pro)
4g.125468677G=CA1491662357FAT4c.12071G= (p.Arg4024=)
c.6842G= (p.Arg2281=)
c.6854G= (p.Arg2285=)
c.12065G= (p.Arg4022=)
4g.125468677G>TCA358128315FAT4c.12071G>T (p.Arg4024Leu)
c.6842G>T (p.Arg2281Leu)
c.6854G>T (p.Arg2285Leu)
c.12065G>T (p.Arg4022Leu)
4g.125468678G>ACA441372976FAT4c.12072G>A (p.Arg4024=)
c.6843G>A (p.Arg2281=)
c.6855G>A (p.Arg2285=)
c.12066G>A (p.Arg4022=)
4g.125468678G>CCA441372977FAT4c.12072G>C (p.Arg4024=)
c.6843G>C (p.Arg2281=)
c.6855G>C (p.Arg2285=)
c.12066G>C (p.Arg4022=)
4g.125468678G>TCA441372978FAT4c.12072G>T (p.Arg4024=)
c.6843G>T (p.Arg2281=)
c.6855G>T (p.Arg2285=)
c.12066G>T (p.Arg4022=)
4g.125468679G>ACA358128320FAT4c.12073G>A (p.Ala4025Thr)
c.6844G>A (p.Ala2282Thr)
c.6856G>A (p.Ala2286Thr)
c.12067G>A (p.Ala4023Thr)
4g.125468679G>CCA358128323FAT4c.12073G>C (p.Ala4025Pro)
c.6844G>C (p.Ala2282Pro)
c.6856G>C (p.Ala2286Pro)
c.12067G>C (p.Ala4023Pro)
4g.125468679G>TCA358128326FAT4c.12073G>T (p.Ala4025Ser)
c.6844G>T (p.Ala2282Ser)
c.6856G>T (p.Ala2286Ser)
c.12067G>T (p.Ala4023Ser)
COSMIC COSMIC COSMIC
4g.125468680C>ACA358128330FAT4c.12074C>A (p.Ala4025Asp)
c.6845C>A (p.Ala2282Asp)
c.6857C>A (p.Ala2286Asp)
c.12068C>A (p.Ala4023Asp)
4g.125468680C=CA1491662358FAT4c.12074C= (p.Ala4025=)
c.6845C= (p.Ala2282=)
c.6857C= (p.Ala2286=)
c.12068C= (p.Ala4023=)
4g.125468680C>GCA358128333FAT4c.12074C>G (p.Ala4025Gly)
c.6845C>G (p.Ala2282Gly)
c.6857C>G (p.Ala2286Gly)
c.12068C>G (p.Ala4023Gly)
gnomAD v4
4g.125468680C>TCA3074004FAT4c.12074C>T (p.Ala4025Val)
c.6845C>T (p.Ala2282Val)
c.6857C>T (p.Ala2286Val)
c.12068C>T (p.Ala4023Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468681T>ACA441372979FAT4c.12075T>A (p.Ala4025=)
c.6846T>A (p.Ala2282=)
c.6858T>A (p.Ala2286=)
c.12069T>A (p.Ala4023=)
4g.125468681T>CCA441372980FAT4c.12075T>C (p.Ala4025=)
c.6846T>C (p.Ala2282=)
c.6858T>C (p.Ala2286=)
c.12069T>C (p.Ala4023=)
4g.125468681T>GCA441372981FAT4c.12075T>G (p.Ala4025=)
c.6846T>G (p.Ala2282=)
c.6858T>G (p.Ala2286=)
c.12069T>G (p.Ala4023=)
4g.125468682G>ACA358128339FAT4c.12076G>A (p.Glu4026Lys)
c.6847G>A (p.Glu2283Lys)
c.6859G>A (p.Glu2287Lys)
c.12070G>A (p.Glu4024Lys)
4g.125468682G>CCA358128343FAT4c.12076G>C (p.Glu4026Gln)
c.6847G>C (p.Glu2283Gln)
c.6859G>C (p.Glu2287Gln)
c.12070G>C (p.Glu4024Gln)
4g.125468682G>TCA358128338FAT4c.12076G>T (p.Glu4026Ter)
c.6847G>T (p.Glu2283Ter)
c.6859G>T (p.Glu2287Ter)
c.12070G>T (p.Glu4024Ter)
4g.125468683A=CA1491662359FAT4c.12077A= (p.Glu4026=)
c.6848A= (p.Glu2283=)
c.6860A= (p.Glu2287=)
c.12071A= (p.Glu4024=)
4g.125468683A>CCA358128346FAT4c.12077A>C (p.Glu4026Ala)
c.6848A>C (p.Glu2283Ala)
c.6860A>C (p.Glu2287Ala)
c.12071A>C (p.Glu4024Ala)
4g.125468683A>GCA358128351FAT4c.12077A>G (p.Glu4026Gly)
c.6848A>G (p.Glu2283Gly)
c.6860A>G (p.Glu2287Gly)
c.12071A>G (p.Glu4024Gly)
dbSNP gnomAD v2 gnomAD v4
4g.125468683A>TCA358128348FAT4c.12077A>T (p.Glu4026Val)
c.6848A>T (p.Glu2283Val)
c.6860A>T (p.Glu2287Val)
c.12071A>T (p.Glu4024Val)
4g.125468684G>ACA441372982FAT4c.12078G>A (p.Glu4026=)
c.6849G>A (p.Glu2283=)
c.6861G>A (p.Glu2287=)
c.12072G>A (p.Glu4024=)
ClinVar dbSNP
4g.125468684G>CCA358128352FAT4c.12078G>C (p.Glu4026Asp)
c.6849G>C (p.Glu2283Asp)
c.6861G>C (p.Glu2287Asp)
c.12072G>C (p.Glu4024Asp)
4g.125468684G>TCA358128354FAT4c.12078G>T (p.Glu4026Asp)
c.6849G>T (p.Glu2283Asp)
c.6861G>T (p.Glu2287Asp)
c.12072G>T (p.Glu4024Asp)
4g.125468685T>ACA358128357FAT4c.12079T>A (p.Phe4027Ile)
c.6850T>A (p.Phe2284Ile)
c.6862T>A (p.Phe2288Ile)
c.12073T>A (p.Phe4025Ile)
4g.125468685T>CCA358128359FAT4c.12079T>C (p.Phe4027Leu)
c.6850T>C (p.Phe2284Leu)
c.6862T>C (p.Phe2288Leu)
c.12073T>C (p.Phe4025Leu)
4g.125468685T>GCA358128363FAT4c.12079T>G (p.Phe4027Val)
c.6850T>G (p.Phe2284Val)
c.6862T>G (p.Phe2288Val)
c.12073T>G (p.Phe4025Val)
4g.125468689delCA2672011534FAT4c.12083del (p.Leu4028TrpfsTer10)
c.6854del (p.Leu2285TrpfsTer10)
c.6866del (p.Leu2289TrpfsTer10)
c.12077del (p.Leu4026TrpfsTer10)
gnomAD v4
4g.125468686T>ACA358128366FAT4c.12080T>A (p.Phe4027Tyr)
c.6851T>A (p.Phe2284Tyr)
c.6863T>A (p.Phe2288Tyr)
c.12074T>A (p.Phe4025Tyr)
4g.125468686T>CCA358128367FAT4c.12080T>C (p.Phe4027Ser)
c.6851T>C (p.Phe2284Ser)
c.6863T>C (p.Phe2288Ser)
c.12074T>C (p.Phe4025Ser)
4g.125468686T>GCA358128371FAT4c.12080T>G (p.Phe4027Cys)
c.6851T>G (p.Phe2284Cys)
c.6863T>G (p.Phe2288Cys)
c.12074T>G (p.Phe4025Cys)
4g.125468687T>ACA358128374FAT4c.12081T>A (p.Phe4027Leu)
c.6852T>A (p.Phe2284Leu)
c.6864T>A (p.Phe2288Leu)
c.12075T>A (p.Phe4025Leu)
4g.125468687T>CCA441372983FAT4c.12081T>C (p.Phe4027=)
c.6852T>C (p.Phe2284=)
c.6864T>C (p.Phe2288=)
c.12075T>C (p.Phe4025=)
4g.125468687T>GCA358128377FAT4c.12081T>G (p.Phe4027Leu)
c.6852T>G (p.Phe2284Leu)
c.6864T>G (p.Phe2288Leu)
c.12075T>G (p.Phe4025Leu)
4g.125468688T>ACA358128379FAT4c.12082T>A (p.Leu4028Met)
c.6853T>A (p.Leu2285Met)
c.6865T>A (p.Leu2289Met)
c.12076T>A (p.Leu4026Met)
4g.125468688T>CCA441372984FAT4c.12082T>C (p.Leu4028=)
c.6853T>C (p.Leu2285=)
c.6865T>C (p.Leu2289=)
c.12076T>C (p.Leu4026=)
ClinVar
4g.125468688T>GCA358128382FAT4c.12082T>G (p.Leu4028Val)
c.6853T>G (p.Leu2285Val)
c.6865T>G (p.Leu2289Val)
c.12076T>G (p.Leu4026Val)
4g.125468689T>ACA358128391FAT4c.12083T>A (p.Leu4028Ter)
c.6854T>A (p.Leu2285Ter)
c.6866T>A (p.Leu2289Ter)
c.12077T>A (p.Leu4026Ter)
4g.125468689T>CCA358128386FAT4c.12083T>C (p.Leu4028Ser)
c.6854T>C (p.Leu2285Ser)
c.6866T>C (p.Leu2289Ser)
c.12077T>C (p.Leu4026Ser)
COSMIC COSMIC COSMIC
4g.125468689T>GCA358128389FAT4c.12083T>G (p.Leu4028Trp)
c.6854T>G (p.Leu2285Trp)
c.6866T>G (p.Leu2289Trp)
c.12077T>G (p.Leu4026Trp)
4g.125468690G>ACA3074005FAT4c.12084G>A (p.Leu4028=)
c.6855G>A (p.Leu2285=)
c.6867G>A (p.Leu2289=)
c.12078G>A (p.Leu4026=)
dbSNP ExAC gnomAD v2
4g.125468690G>CCA358128398FAT4c.12084G>C (p.Leu4028Phe)
c.6855G>C (p.Leu2285Phe)
c.6867G>C (p.Leu2289Phe)
c.12078G>C (p.Leu4026Phe)
4g.125468690G=CA1491662360FAT4c.12084G= (p.Leu4028=)
c.6855G= (p.Leu2285=)
c.6867G= (p.Leu2289=)
c.12078G= (p.Leu4026=)
4g.125468690G>TCA358128400FAT4c.12084G>T (p.Leu4028Phe)
c.6855G>T (p.Leu2285Phe)
c.6867G>T (p.Leu2289Phe)
c.12078G>T (p.Leu4026Phe)
4g.125468691delCA2571095342FAT4c.12085del (p.Ala4029ProfsTer9)
c.6856del (p.Ala2286ProfsTer9)
c.6868del (p.Ala2290ProfsTer9)
c.12079del (p.Ala4027ProfsTer9)
4g.125468691G>ACA3074006FAT4c.12085G>A (p.Ala4029Thr)
c.6856G>A (p.Ala2286Thr)
c.6868G>A (p.Ala2290Thr)
c.12079G>A (p.Ala4027Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468691G>CCA358128405FAT4c.12085G>C (p.Ala4029Pro)
c.6856G>C (p.Ala2286Pro)
c.6868G>C (p.Ala2290Pro)
c.12079G>C (p.Ala4027Pro)
4g.125468691G=CA1491662361FAT4c.12085G= (p.Ala4029=)
c.6856G= (p.Ala2286=)
c.6868G= (p.Ala2290=)
c.12079G= (p.Ala4027=)
4g.125468691G>TCA358128408FAT4c.12085G>T (p.Ala4029Ser)
c.6856G>T (p.Ala2286Ser)
c.6868G>T (p.Ala2290Ser)
c.12079G>T (p.Ala4027Ser)
COSMIC COSMIC COSMIC
4g.125468692C>ACA358128412FAT4c.12086C>A (p.Ala4029Asp)
c.6857C>A (p.Ala2286Asp)
c.6869C>A (p.Ala2290Asp)
c.12080C>A (p.Ala4027Asp)
4g.125468692C>GCA358128415FAT4c.12086C>G (p.Ala4029Gly)
c.6857C>G (p.Ala2286Gly)
c.6869C>G (p.Ala2290Gly)
c.12080C>G (p.Ala4027Gly)
4g.125468692C>TCA358128419FAT4c.12086C>T (p.Ala4029Val)
c.6857C>T (p.Ala2286Val)
c.6869C>T (p.Ala2290Val)
c.12080C>T (p.Ala4027Val)
4g.125468693C>ACA3074007FAT4c.12087C>A (p.Ala4029=)
c.6858C>A (p.Ala2286=)
c.6870C>A (p.Ala2290=)
c.12081C>A (p.Ala4027=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468693C=CA1491662362FAT4c.12087C= (p.Ala4029=)
c.6858C= (p.Ala2286=)
c.6870C= (p.Ala2290=)
c.12081C= (p.Ala4027=)
4g.125468693C>GCA3074008FAT4c.12087C>G (p.Ala4029=)
c.6858C>G (p.Ala2286=)
c.6870C>G (p.Ala2290=)
c.12081C>G (p.Ala4027=)
dbSNP ExAC gnomAD v3 gnomAD v4
4g.125468693C>TCA441372985FAT4c.12087C>T (p.Ala4029=)
c.6858C>T (p.Ala2286=)
c.6870C>T (p.Ala2290=)
c.12081C>T (p.Ala4027=)
gnomAD v4
4g.125468694C>ACA358128430FAT4c.12088C>A (p.Leu4030Ile)
c.6859C>A (p.Leu2287Ile)
c.6871C>A (p.Leu2291Ile)
c.12082C>A (p.Leu4028Ile)
4g.125468694C=CA1491662363FAT4c.12088C= (p.Leu4030=)
c.6859C= (p.Leu2287=)
c.6871C= (p.Leu2291=)
c.12082C= (p.Leu4028=)
4g.125468694C>GCA358128428FAT4c.12088C>G (p.Leu4030Val)
c.6859C>G (p.Leu2287Val)
c.6871C>G (p.Leu2291Val)
c.12082C>G (p.Leu4028Val)
COSMIC COSMIC
4g.125468694C>TCA3074009FAT4c.12088C>T (p.Leu4030Phe)
c.6859C>T (p.Leu2287Phe)
c.6871C>T (p.Leu2291Phe)
c.12082C>T (p.Leu4028Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468695T>ACA358128433FAT4c.12089T>A (p.Leu4030His)
c.6860T>A (p.Leu2287His)
c.6872T>A (p.Leu2291His)
c.12083T>A (p.Leu4028His)
4g.125468695T>CCA358128435FAT4c.12089T>C (p.Leu4030Pro)
c.6860T>C (p.Leu2287Pro)
c.6872T>C (p.Leu2291Pro)
c.12083T>C (p.Leu4028Pro)
4g.125468695T>GCA358128442FAT4c.12089T>G (p.Leu4030Arg)
c.6860T>G (p.Leu2287Arg)
c.6872T>G (p.Leu2291Arg)
c.12083T>G (p.Leu4028Arg)
4g.125468696T>ACA441372986FAT4c.12090T>A (p.Leu4030=)
c.6861T>A (p.Leu2287=)
c.6873T>A (p.Leu2291=)
c.12084T>A (p.Leu4028=)
4g.125468696T>CCA441372987FAT4c.12090T>C (p.Leu4030=)
c.6861T>C (p.Leu2287=)
c.6873T>C (p.Leu2291=)
c.12084T>C (p.Leu4028=)
gnomAD v4
4g.125468696T>GCA441372988FAT4c.12090T>G (p.Leu4030=)
c.6861T>G (p.Leu2287=)
c.6873T>G (p.Leu2291=)
c.12084T>G (p.Leu4028=)
gnomAD v4
4g.125468697G>ACA358128444FAT4c.12091G>A (p.Glu4031Lys)
c.6862G>A (p.Glu2288Lys)
c.6874G>A (p.Glu2292Lys)
c.12085G>A (p.Glu4029Lys)
ClinVar dbSNP
4g.125468697G>CCA358128447FAT4c.12091G>C (p.Glu4031Gln)
c.6862G>C (p.Glu2288Gln)
c.6874G>C (p.Glu2292Gln)
c.12085G>C (p.Glu4029Gln)
4g.125468697G=CA1491662364FAT4c.12091G= (p.Glu4031=)
c.6862G= (p.Glu2288=)
c.6874G= (p.Glu2292=)
c.12085G= (p.Glu4029=)
4g.125468697G>TCA358128449FAT4c.12091G>T (p.Glu4031Ter)
c.6862G>T (p.Glu2288Ter)
c.6874G>T (p.Glu2292Ter)
c.12085G>T (p.Glu4029Ter)
4g.125468698A>CCA358128461FAT4c.12092A>C (p.Glu4031Ala)
c.6863A>C (p.Glu2288Ala)
c.6875A>C (p.Glu2292Ala)
c.12086A>C (p.Glu4029Ala)
4g.125468698A>GCA358128452FAT4c.12092A>G (p.Glu4031Gly)
c.6863A>G (p.Glu2288Gly)
c.6875A>G (p.Glu2292Gly)
c.12086A>G (p.Glu4029Gly)
4g.125468698A>TCA358128455FAT4c.12092A>T (p.Glu4031Val)
c.6863A>T (p.Glu2288Val)
c.6875A>T (p.Glu2292Val)
c.12086A>T (p.Glu4029Val)
4g.125468699A>CCA358128463FAT4c.12093A>C (p.Glu4031Asp)
c.6864A>C (p.Glu2288Asp)
c.6876A>C (p.Glu2292Asp)
c.12087A>C (p.Glu4029Asp)
4g.125468699A>GCA441372989FAT4c.12093A>G (p.Glu4031=)
c.6864A>G (p.Glu2288=)
c.6876A>G (p.Glu2292=)
c.12087A>G (p.Glu4029=)
4g.125468699A>TCA358128465FAT4c.12093A>T (p.Glu4031Asp)
c.6864A>T (p.Glu2288Asp)
c.6876A>T (p.Glu2292Asp)
c.12087A>T (p.Glu4029Asp)
ClinVar dbSNP
4g.125468700A>CCA358128468FAT4c.12094A>C (p.Ile4032Leu)
c.6865A>C (p.Ile2289Leu)
c.6877A>C (p.Ile2293Leu)
c.12088A>C (p.Ile4030Leu)
4g.125468700A>GCA358128471FAT4c.12094A>G (p.Ile4032Val)
c.6865A>G (p.Ile2289Val)
c.6877A>G (p.Ile2293Val)
c.12088A>G (p.Ile4030Val)
4g.125468700A>TCA358128473FAT4c.12094A>T (p.Ile4032Phe)
c.6865A>T (p.Ile2289Phe)
c.6877A>T (p.Ile2293Phe)
c.12088A>T (p.Ile4030Phe)
4g.125468701T>ACA358128475FAT4c.12095T>A (p.Ile4032Asn)
c.6866T>A (p.Ile2289Asn)
c.6878T>A (p.Ile2293Asn)
c.12089T>A (p.Ile4030Asn)
4g.125468701T>CCA358128481FAT4c.12095T>C (p.Ile4032Thr)
c.6866T>C (p.Ile2289Thr)
c.6878T>C (p.Ile2293Thr)
c.12089T>C (p.Ile4030Thr)
4g.125468701T>GCA358128478FAT4c.12095T>G (p.Ile4032Ser)
c.6866T>G (p.Ile2289Ser)
c.6878T>G (p.Ile2293Ser)
c.12089T>G (p.Ile4030Ser)
4g.125468702T>ACA441372990FAT4c.12096T>A (p.Ile4032=)
c.6867T>A (p.Ile2289=)
c.6879T>A (p.Ile2293=)
c.12090T>A (p.Ile4030=)
4g.125468702T>CCA441372991FAT4c.12096T>C (p.Ile4032=)
c.6867T>C (p.Ile2289=)
c.6879T>C (p.Ile2293=)
c.12090T>C (p.Ile4030=)
4g.125468702T>GCA358128486FAT4c.12096T>G (p.Ile4032Met)
c.6867T>G (p.Ile2289Met)
c.6879T>G (p.Ile2293Met)
c.12090T>G (p.Ile4030Met)
4g.125468703G>ACA358128487FAT4c.12097G>A (p.Ala4033Thr)
c.6868G>A (p.Ala2290Thr)
c.6880G>A (p.Ala2294Thr)
c.12091G>A (p.Ala4031Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125468703G>CCA358128490FAT4c.12097G>C (p.Ala4033Pro)
c.6868G>C (p.Ala2290Pro)
c.6880G>C (p.Ala2294Pro)
c.12091G>C (p.Ala4031Pro)
4g.125468703G=CA1491662365FAT4c.12097G= (p.Ala4033=)
c.6868G= (p.Ala2290=)
c.6880G= (p.Ala2294=)
c.12091G= (p.Ala4031=)
4g.125468703G>TCA358128492FAT4c.12097G>T (p.Ala4033Ser)
c.6868G>T (p.Ala2290Ser)
c.6880G>T (p.Ala2294Ser)
c.12091G>T (p.Ala4031Ser)
4g.125468704C>ACA358128495FAT4c.12098C>A (p.Ala4033Asp)
c.6869C>A (p.Ala2290Asp)
c.6881C>A (p.Ala2294Asp)
c.12092C>A (p.Ala4031Asp)
4g.125468704C>GCA358128496FAT4c.12098C>G (p.Ala4033Gly)
c.6869C>G (p.Ala2290Gly)
c.6881C>G (p.Ala2294Gly)
c.12092C>G (p.Ala4031Gly)
4g.125468704C>TCA358128500FAT4c.12098C>T (p.Ala4033Val)
c.6869C>T (p.Ala2290Val)
c.6881C>T (p.Ala2294Val)
c.12092C>T (p.Ala4031Val)
COSMIC COSMIC
4g.125468705C>ACA104860407FAT4c.12099C>A (p.Ala4033=)
c.6870C>A (p.Ala2290=)
c.6882C>A (p.Ala2294=)
c.12093C>A (p.Ala4031=)
ClinVar dbSNP
4g.125468705C=CA1491662366FAT4c.12099C= (p.Ala4033=)
c.6870C= (p.Ala2290=)
c.6882C= (p.Ala2294=)
c.12093C= (p.Ala4031=)
4g.125468705C>GCA441372992FAT4c.12099C>G (p.Ala4033=)
c.6870C>G (p.Ala2290=)
c.6882C>G (p.Ala2294=)
c.12093C>G (p.Ala4031=)
4g.125468705C>TCA3074010FAT4c.12099C>T (p.Ala4033=)
c.6870C>T (p.Ala2290=)
c.6882C>T (p.Ala2294=)
c.12093C>T (p.Ala4031=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468706G>ACA358128505FAT4c.12100G>A (p.Glu4034Lys)
c.6871G>A (p.Glu2291Lys)
c.6883G>A (p.Glu2295Lys)
c.12094G>A (p.Glu4032Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468706G>CCA358128506FAT4c.12100G>C (p.Glu4034Gln)
c.6871G>C (p.Glu2291Gln)
c.6883G>C (p.Glu2295Gln)
c.12094G>C (p.Glu4032Gln)
4g.125468706G=CA1491662367FAT4c.12100G= (p.Glu4034=)
c.6871G= (p.Glu2291=)
c.6883G= (p.Glu2295=)
c.12094G= (p.Glu4032=)
4g.125468706G>TCA358128510FAT4c.12100G>T (p.Glu4034Ter)
c.6871G>T (p.Glu2291Ter)
c.6883G>T (p.Glu2295Ter)
c.12094G>T (p.Glu4032Ter)
4g.125468707A>CCA358128512FAT4c.12101A>C (p.Glu4034Ala)
c.6872A>C (p.Glu2291Ala)
c.6884A>C (p.Glu2295Ala)
c.12095A>C (p.Glu4032Ala)
4g.125468707A>GCA358128517FAT4c.12101A>G (p.Glu4034Gly)
c.6872A>G (p.Glu2291Gly)
c.6884A>G (p.Glu2295Gly)
c.12095A>G (p.Glu4032Gly)
4g.125468707A>TCA358128515FAT4c.12101A>T (p.Glu4034Val)
c.6872A>T (p.Glu2291Val)
c.6884A>T (p.Glu2295Val)
c.12095A>T (p.Glu4032Val)
4g.125468711_125468714delCA2672011535FAT4c.12105_12108del (p.Glu4035AspfsTer2)
c.6876_6879del (p.Glu2292AspfsTer2)
c.6888_6891del (p.Glu2296AspfsTer2)
c.12099_12102del (p.Glu4033AspfsTer2)
gnomAD v4

Number of alleles fetched