Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574229_47574321delCA2693584929SYN1c.1673_1765del (p.Ala558_Gln588del)
c.70+377_70+469del (n.70+377_70+469del)
 gnomAD v4
Xg.47574318G>ACA412822965SYN1c.1666C>T (p.Arg556Cys)
c.70+370C>T (n.70+370C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574318G>CCA412822966SYN1c.1666C>G (p.Arg556Gly)
c.70+370C>G (n.70+370C>G)
Xg.47574318G=CA2427971258SYN1c.1666C= (p.Arg556=)
c.70+370C= (n.70+370C=)
Xg.47574318G>TCA412822963SYN1c.1666C>A (p.Arg556Ser)
c.70+370C>A (n.70+370C>A)
 dbSNP gnomAD v4
Xg.47574319C>ACA318964SYN1c.1665G>T (p.Gln555His)
c.70+369G>T (n.70+369G>T)
 ClinVar dbSNP gnomAD v4
Xg.47574319C=CA2427971259SYN1c.1665G= (p.Gln555=)
c.70+369G= (n.70+369G=)
Xg.47574319C>GCA412822968SYN1c.1665G>C (p.Gln555His)
c.70+369G>C (n.70+369G>C)
 gnomAD v4
Xg.47574319C>TCA516353909SYN1c.1665G>A (p.Gln555=)
c.70+369G>A (n.70+369G>A)
 gnomAD v4
Xg.47574320T>ACA412822970SYN1c.1664A>T (p.Gln555Leu)
c.70+368A>T (n.70+368A>T)
Xg.47574320T>CCA412822972SYN1c.1664A>G (p.Gln555Arg)
c.70+368A>G (n.70+368A>G)
 gnomAD v4
Xg.47574320T>GCA412822973SYN1c.1664A>C (p.Gln555Pro)
c.70+368A>C (n.70+368A>C)
Xg.47574320_47574321delinsTGCA2427971260SYN1c.1663_1664delinsCA (p.Gln555=)
c.70+367_70+368delinsCA (n.70+367_70+368delinsCA)
Xg.47574321G>ACA130885SYN1c.1663C>T (p.Gln555Ter)
c.70+367C>T (n.70+367C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574321G>CCA412822976SYN1c.1663C>G (p.Gln555Glu)
c.70+367C>G (n.70+367C>G)
Xg.47574321G=CA2427971261SYN1c.1663C= (p.Gln555=)
c.70+367C= (n.70+367C=)
Xg.47574321G>TCA412822978SYN1c.1663C>A (p.Gln555Lys)
c.70+367C>A (n.70+367C>A)
 gnomAD v4
Xg.47574324delCA641900876SYN1c.1663del (p.Gln555SerfsTer?)
c.70+367del (n.70+367del)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574322G>ACA516353916SYN1c.1662C>T (p.Pro554=)
c.70+366C>T (n.70+366C>T)
 gnomAD v4
Xg.47574322G>CCA516353915SYN1c.1662C>G (p.Pro554=)
c.70+366C>G (n.70+366C>G)
Xg.47574322G=CA2427971262SYN1c.1662C= (p.Pro554=)
c.70+366C= (n.70+366C=)
Xg.47574322G>TCA516353914SYN1c.1662C>A (p.Pro554=)
c.70+366C>A (n.70+366C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574323G>ACA412822979SYN1c.1661C>T (p.Pro554Leu)
c.70+365C>T (n.70+365C>T)
 gnomAD v4
Xg.47574323G>CCA412822980SYN1c.1661C>G (p.Pro554Arg)
c.70+365C>G (n.70+365C>G)
Xg.47574323G>TCA412822982SYN1c.1661C>A (p.Pro554His)
c.70+365C>A (n.70+365C>A)
 gnomAD v4
Xg.47574324G>ACA412822985SYN1c.1660C>T (p.Pro554Ser)
c.70+364C>T (n.70+364C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574324G>CCA412822986SYN1c.1660C>G (p.Pro554Ala)
c.70+364C>G (n.70+364C>G)
Xg.47574324G=CA2427971263SYN1c.1660C= (p.Pro554=)
c.70+364C= (n.70+364C=)
Xg.47574324G>TCA412822987SYN1c.1660C>A (p.Pro554Thr)
c.70+364C>A (n.70+364C>A)
 gnomAD v4
Xg.47574325A>CCA516353917SYN1c.1659T>G (p.Ser553=)
c.70+363T>G (n.70+363T>G)
Xg.47574325A>GCA516353919SYN1c.1659T>C (p.Ser553=)
c.70+363T>C (n.70+363T>C)
 gnomAD v4
Xg.47574325A>TCA516353918SYN1c.1659T>A (p.Ser553=)
c.70+363T>A (n.70+363T>A)
 dbSNP gnomAD v4
Xg.47574326G>ACA412822992SYN1c.1658C>T (p.Ser553Phe)
c.70+362C>T (n.70+362C>T)
 gnomAD v4
Xg.47574326G>CCA412822991SYN1c.1658C>G (p.Ser553Cys)
c.70+362C>G (n.70+362C>G)
Xg.47574326G>TCA412822989SYN1c.1658C>A (p.Ser553Tyr)
c.70+362C>A (n.70+362C>A)
 gnomAD v4
Xg.47574327A=CA2427971264SYN1c.1657T= (p.Ser553=)
c.70+361T= (n.70+361T=)
Xg.47574327A>CCA412822994SYN1c.1657T>G (p.Ser553Ala)
c.70+361T>G (n.70+361T>G)
Xg.47574327A>GCA412822995SYN1c.1657T>C (p.Ser553Pro)
c.70+361T>C (n.70+361T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574327A>TCA412822997SYN1c.1657T>A (p.Ser553Thr)
c.70+361T>A (n.70+361T>A)
Xg.47574328delCA2693585158SYN1c.1656del (p.Ser553LeufsTer?)
c.70+360del (n.70+360del)
 gnomAD v4
Xg.47574328C>ACA516353923SYN1c.1656G>T (p.Pro552=)
c.70+360G>T (n.70+360G>T)
 gnomAD v4
Xg.47574328C=CA2427971265SYN1c.1656G= (p.Pro552=)
c.70+360G= (n.70+360G=)
Xg.47574328C>GCA516353924SYN1c.1656G>C (p.Pro552=)
c.70+360G>C (n.70+360G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574328C>TCA329057256SYN1c.1656G>A (p.Pro552=)
c.70+360G>A (n.70+360G>A)
 dbSNP gnomAD v4
Xg.47574329G>ACA412822998SYN1c.1655C>T (p.Pro552Leu)
c.70+359C>T (n.70+359C>T)
 gnomAD v4
Xg.47574329G>CCA412822999SYN1c.1655C>G (p.Pro552Arg)
c.70+359C>G (n.70+359C>G)
Xg.47574329G>TCA412823000SYN1c.1655C>A (p.Pro552Gln)
c.70+359C>A (n.70+359C>A)
 gnomAD v4
Xg.47574330delCA2697553085SYN1c.1655del (p.Pro552ArgfsTer?)
c.70+359del (n.70+359del)
 ClinVar
Xg.47574330G>ACA412823002SYN1c.1654C>T (p.Pro552Ser)
c.70+358C>T (n.70+358C>T)
 ClinVar gnomAD v4
Xg.47574330G>CCA412823003SYN1c.1654C>G (p.Pro552Ala)
c.70+358C>G (n.70+358C>G)
Xg.47574330G>TCA412823005SYN1c.1654C>A (p.Pro552Thr)
c.70+358C>A (n.70+358C>A)
 gnomAD v4
Xg.47574331A=CA2427971266SYN1c.1653T= (p.Ser551=)
c.70+357T= (n.70+357T=)
Xg.47574331A>CCA516353928SYN1c.1653T>G (p.Ser551=)
c.70+357T>G (n.70+357T>G)
Xg.47574331A>GCA516353929SYN1c.1653T>C (p.Ser551=)
c.70+357T>C (n.70+357T>C)
 gnomAD v4
Xg.47574331A>TCA516353930SYN1c.1653T>A (p.Ser551=)
c.70+357T>A (n.70+357T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574332G>ACA412823007SYN1c.1652C>T (p.Ser551Phe)
c.70+356C>T (n.70+356C>T)
 gnomAD v4
Xg.47574332G>CCA412823008SYN1c.1652C>G (p.Ser551Cys)
c.70+356C>G (n.70+356C>G)
Xg.47574332G>TCA412823010SYN1c.1652C>A (p.Ser551Tyr)
c.70+356C>A (n.70+356C>A)
 gnomAD v4
Xg.47574333A>CCA412823012SYN1c.1651T>G (p.Ser551Ala)
c.70+355T>G (n.70+355T>G)
Xg.47574333A>GCA412823013SYN1c.1651T>C (p.Ser551Pro)
c.70+355T>C (n.70+355T>C)
 gnomAD v4
Xg.47574333A>TCA412823015SYN1c.1651T>A (p.Ser551Thr)
c.70+355T>A (n.70+355T>A)
Xg.47574333_47574337delinsAGGCGCA2427971267SYN1c.1647_1651delinsCGCCT (p.Pro549=)
c.70+351_70+355delinsCGCCT (n.70+351_70+355delinsCGCCT)
Xg.47574334G>ACA516353934SYN1c.1650C>T (p.Ala550=)
c.70+354C>T (n.70+354C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574334G>CCA516353935SYN1c.1650C>G (p.Ala550=)
c.70+354C>G (n.70+354C>G)
Xg.47574334G=CA2427971268SYN1c.1650C= (p.Ala550=)
c.70+354C= (n.70+354C=)
Xg.47574334G>TCA516353936SYN1c.1650C>A (p.Ala550=)
c.70+354C>A (n.70+354C>A)
Xg.47574345_47574348dupCA2579596678SYN1c.1647_1650dup (p.Ser551ArgfsTer?)
c.70+351_70+354dup (n.70+351_70+354dup)
 ClinVar
Xg.47574345_47574348delCA516353937SYN1c.1647_1650del (p.Ala550LeufsTer?)
c.70+351_70+354del (n.70+351_70+354del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574335G>ACA412823018SYN1c.1649C>T (p.Ala550Val)
c.70+353C>T (n.70+353C>T)
 gnomAD v4
Xg.47574335G>CCA412823020SYN1c.1649C>G (p.Ala550Gly)
c.70+353C>G (n.70+353C>G)
 gnomAD v4
Xg.47574335G>TCA412823016SYN1c.1649C>A (p.Ala550Asp)
c.70+353C>A (n.70+353C>A)
 gnomAD v4
Xg.47574335_47574336delinsAACA1139667510SYN1c.1648_1649delinsTT (p.Ala550Phe)
c.70+352_70+353delinsTT (n.70+352_70+353delinsTT)
 ClinVar dbSNP
Xg.47574335_47574336delinsGCCA2427971269SYN1c.1648_1649delinsGC (p.Ala550=)
c.70+352_70+353delinsGC (n.70+352_70+353delinsGC)
Xg.47574336C>ACA412823022SYN1c.1648G>T (p.Ala550Ser)
c.70+352G>T (n.70+352G>T)
 gnomAD v4
Xg.47574336C=CA2427971270SYN1c.1648G= (p.Ala550=)
c.70+352G= (n.70+352G=)
Xg.47574336C>GCA329057259SYN1c.1648G>C (p.Ala550Pro)
c.70+352G>C (n.70+352G>C)
 dbSNP gnomAD v4
Xg.47574336C>TCA130887SYN1c.1648G>A (p.Ala550Thr)
c.70+352G>A (n.70+352G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574337G>ACA516353941SYN1c.1647C>T (p.Pro549=)
c.70+351C>T (n.70+351C>T)
 ClinVar gnomAD v4
Xg.47574337G>CCA516353942SYN1c.1647C>G (p.Pro549=)
c.70+351C>G (n.70+351C>G)
Xg.47574337G>TCA516353943SYN1c.1647C>A (p.Pro549=)
c.70+351C>A (n.70+351C>A)
 gnomAD v4
Xg.47574338G>ACA412823025SYN1c.1646C>T (p.Pro549Leu)
c.70+350C>T (n.70+350C>T)
 ClinVar gnomAD v4
Xg.47574338G>CCA412823027SYN1c.1646C>G (p.Pro549Arg)
c.70+350C>G (n.70+350C>G)
Xg.47574338G>TCA412823028SYN1c.1646C>A (p.Pro549His)
c.70+350C>A (n.70+350C>A)
 gnomAD v4
Xg.47574339G>ACA412823030SYN1c.1645C>T (p.Pro549Ser)
c.70+349C>T (n.70+349C>T)
 gnomAD v4
Xg.47574339G>CCA412823032SYN1c.1645C>G (p.Pro549Ala)
c.70+349C>G (n.70+349C>G)
Xg.47574339G>TCA412823033SYN1c.1645C>A (p.Pro549Thr)
c.70+349C>A (n.70+349C>A)
 gnomAD v4
Xg.47574340C>ACA516353944SYN1c.1644G>T (p.Pro548=)
c.70+348G>T (n.70+348G>T)
 gnomAD v4
Xg.47574340C=CA2427971271SYN1c.1644G= (p.Pro548=)
c.70+348G= (n.70+348G=)
Xg.47574340C>GCA329057265SYN1c.1644G>C (p.Pro548=)
c.70+348G>C (n.70+348G>C)
 dbSNP
Xg.47574340C>TCA516353945SYN1c.1644G>A (p.Pro548=)
c.70+348G>A (n.70+348G>A)
 gnomAD v4
Xg.47574341G>ACA412823035SYN1c.1643C>T (p.Pro548Leu)
c.70+347C>T (n.70+347C>T)
 gnomAD v4
Xg.47574341G>CCA412823037SYN1c.1643C>G (p.Pro548Arg)
c.70+347C>G (n.70+347C>G)
Xg.47574341G>TCA412823038SYN1c.1643C>A (p.Pro548Gln)
c.70+347C>A (n.70+347C>A)
Xg.47574342G>ACA412823041SYN1c.1642C>T (p.Pro548Ser)
c.70+346C>T (n.70+346C>T)
 gnomAD v4
Xg.47574342G>CCA412823039SYN1c.1642C>G (p.Pro548Ala)
c.70+346C>G (n.70+346C>G)
 gnomAD v4
Xg.47574342G>TCA412823040SYN1c.1642C>A (p.Pro548Thr)
c.70+346C>A (n.70+346C>A)
Xg.47574343G>ACA516353946SYN1c.1641C>T (p.Arg547=)
c.70+345C>T (n.70+345C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574343G>CCA516353947SYN1c.1641C>G (p.Arg547=)
c.70+345C>G (n.70+345C>G)
Xg.47574343G>TCA516353948SYN1c.1641C>A (p.Arg547=)
c.70+345C>A (n.70+345C>A)
 gnomAD v4
Xg.47574344C>ACA412823043SYN1c.1640G>T (p.Arg547Leu)
c.70+344G>T (n.70+344G>T)
 gnomAD v4
Xg.47574344C=CA2427971272SYN1c.1640G= (p.Arg547=)
c.70+344G= (n.70+344G=)
Xg.47574344C>GCA329057267SYN1c.1640G>C (p.Arg547Pro)
c.70+344G>C (n.70+344G>C)
 dbSNP gnomAD v4
Xg.47574344C>TCA412823045SYN1c.1640G>A (p.Arg547His)
c.70+344G>A (n.70+344G>A)
 gnomAD v4
Xg.47574345G>ACA412823047SYN1c.1639C>T (p.Arg547Cys)
c.70+343C>T (n.70+343C>T)
 gnomAD v4
Xg.47574345G>CCA412823048SYN1c.1639C>G (p.Arg547Gly)
c.70+343C>G (n.70+343C>G)
Xg.47574345G>TCA412823050SYN1c.1639C>A (p.Arg547Ser)
c.70+343C>A (n.70+343C>A)
 gnomAD v4
Xg.47574346G>ACA516353951SYN1c.1638C>T (p.Ala546=)
c.70+342C>T (n.70+342C>T)
 gnomAD v4
Xg.47574346G>CCA516353950SYN1c.1638C>G (p.Ala546=)
c.70+342C>G (n.70+342C>G)
Xg.47574346G>TCA516353949SYN1c.1638C>A (p.Ala546=)
c.70+342C>A (n.70+342C>A)
Xg.47574347G>ACA412823052SYN1c.1637C>T (p.Ala546Val)
c.70+341C>T (n.70+341C>T)
 gnomAD v4
Xg.47574347G>CCA412823053SYN1c.1637C>G (p.Ala546Gly)
c.70+341C>G (n.70+341C>G)
Xg.47574347G>TCA412823054SYN1c.1637C>A (p.Ala546Asp)
c.70+341C>A (n.70+341C>A)
 gnomAD v4
Xg.47574348C>ACA412823055SYN1c.1636G>T (p.Ala546Ser)
c.70+340G>T (n.70+340G>T)
 gnomAD v4
Xg.47574348C>GCA412823056SYN1c.1636G>C (p.Ala546Pro)
c.70+340G>C (n.70+340G>C)
Xg.47574348C>TCA412823057SYN1c.1636G>A (p.Ala546Thr)
c.70+340G>A (n.70+340G>A)
 gnomAD v4
Xg.47574351_47574423delCA2820775724SYN1c.1564_1636del (p.Ala522ProfsTer?)
c.70+268_70+340del (n.70+268_70+340del)
Xg.47574349T>ACA516353952SYN1c.1635A>T (p.Ala545=)
c.70+339A>T (n.70+339A>T)
Xg.47574349T>CCA516353953SYN1c.1635A>G (p.Ala545=)
c.70+339A>G (n.70+339A>G)
 gnomAD v3 gnomAD v4
Xg.47574349T>GCA516353954SYN1c.1635A>C (p.Ala545=)
c.70+339A>C (n.70+339A>C)
Xg.47574350delCA2693585165SYN1c.1634del (p.Ala545GlufsTer?)
c.70+338del (n.70+338del)
 gnomAD v4
Xg.47574350G>ACA412823058SYN1c.1634C>T (p.Ala545Val)
c.70+338C>T (n.70+338C>T)
 gnomAD v4
Xg.47574350G>CCA412823059SYN1c.1634C>G (p.Ala545Gly)
c.70+338C>G (n.70+338C>G)
Xg.47574350G=CA2427971273SYN1c.1634C= (p.Ala545=)
c.70+338C= (n.70+338C=)
Xg.47574350G>TCA329057283SYN1c.1634C>A (p.Ala545Glu)
c.70+338C>A (n.70+338C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574351C>ACA412823060SYN1c.1633G>T (p.Ala545Ser)
c.70+337G>T (n.70+337G>T)
 gnomAD v4
Xg.47574351C>GCA412823061SYN1c.1633G>C (p.Ala545Pro)
c.70+337G>C (n.70+337G>C)
Xg.47574351C>TCA412823062SYN1c.1633G>A (p.Ala545Thr)
c.70+337G>A (n.70+337G>A)
 gnomAD v4
Xg.47574352T>ACA516353955SYN1c.1632A>T (p.Pro544=)
c.70+336A>T (n.70+336A>T)
Xg.47574352T>CCA516353957SYN1c.1632A>G (p.Pro544=)
c.70+336A>G (n.70+336A>G)
 gnomAD v4
Xg.47574352T>GCA516353956SYN1c.1632A>C (p.Pro544=)
c.70+336A>C (n.70+336A>C)
Xg.47574353G>ACA412823063SYN1c.1631C>T (p.Pro544Leu)
c.70+335C>T (n.70+335C>T)
 gnomAD v4
Xg.47574353G>CCA412823065SYN1c.1631C>G (p.Pro544Arg)
c.70+335C>G (n.70+335C>G)
Xg.47574353G>TCA412823066SYN1c.1631C>A (p.Pro544Gln)
c.70+335C>A (n.70+335C>A)
 gnomAD v4
Xg.47574354delCA2693585166SYN1c.1631del (p.Pro544GlnfsTer?)
c.70+335del (n.70+335del)
 gnomAD v4
Xg.47574354G>ACA412823070SYN1c.1630C>T (p.Pro544Ser)
c.70+334C>T (n.70+334C>T)
Xg.47574354G>CCA412823068SYN1c.1630C>G (p.Pro544Ala)
c.70+334C>G (n.70+334C>G)
Xg.47574354G>TCA412823067SYN1c.1630C>A (p.Pro544Thr)
c.70+334C>A (n.70+334C>A)
Xg.47574355A=CA2427971274SYN1c.1629T= (p.Pro543=)
c.70+333T= (n.70+333T=)
Xg.47574355A>CCA516353958SYN1c.1629T>G (p.Pro543=)
c.70+333T>G (n.70+333T>G)
 gnomAD v4
Xg.47574355A>GCA329057288SYN1c.1629T>C (p.Pro543=)
c.70+333T>C (n.70+333T>C)
 ClinVar dbSNP gnomAD v4
Xg.47574355A>TCA516353959SYN1c.1629T>A (p.Pro543=)
c.70+333T>A (n.70+333T>A)
Xg.47574356G>ACA412823071SYN1c.1628C>T (p.Pro543Leu)
c.70+332C>T (n.70+332C>T)
Xg.47574356G>CCA412823072SYN1c.1628C>G (p.Pro543Arg)
c.70+332C>G (n.70+332C>G)
Xg.47574356G>TCA412823073SYN1c.1628C>A (p.Pro543His)
c.70+332C>A (n.70+332C>A)
Xg.47574361_47574444delCA2693585170SYN1c.1545_1628del (p.Gln516_Pro543del)
c.70+249_70+332del (n.70+249_70+332del)
 gnomAD v4
Xg.47574357G>ACA329057293SYN1c.1627C>T (p.Pro543Ser)
c.70+331C>T (n.70+331C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574357G>CCA412823074SYN1c.1627C>G (p.Pro543Ala)
c.70+331C>G (n.70+331C>G)
Xg.47574357G=CA2427971275SYN1c.1627C= (p.Pro543=)
c.70+331C= (n.70+331C=)
Xg.47574357G>TCA412823075SYN1c.1627C>A (p.Pro543Thr)
c.70+331C>A (n.70+331C>A)
 gnomAD v4
Xg.47574359_47574360delCA2579596679SYN1c.1626_1627del (p.Pro543SerfsTer?)
c.70+330_70+331del (n.70+330_70+331del)
Xg.47574358C>ACA516353960SYN1c.1626G>T (p.Ala542=)
c.70+330G>T (n.70+330G>T)
 dbSNP gnomAD v4
Xg.47574358C>GCA516353962SYN1c.1626G>C (p.Ala542=)
c.70+330G>C (n.70+330G>C)
Xg.47574358C>TCA516353961SYN1c.1626G>A (p.Ala542=)
c.70+330G>A (n.70+330G>A)
 gnomAD v4
Xg.47574359G>ACA412823076SYN1c.1625C>T (p.Ala542Val)
c.70+329C>T (n.70+329C>T)
 gnomAD v4
Xg.47574359G>CCA412823079SYN1c.1625C>G (p.Ala542Gly)
c.70+329C>G (n.70+329C>G)
Xg.47574359G>TCA412823078SYN1c.1625C>A (p.Ala542Glu)
c.70+329C>A (n.70+329C>A)
 gnomAD v4
Xg.47574360C>ACA412823081SYN1c.1624G>T (p.Ala542Ser)
c.70+328G>T (n.70+328G>T)
 dbSNP
Xg.47574360C=CA2427971276SYN1c.1624G= (p.Ala542=)
c.70+328G= (n.70+328G=)
Xg.47574360C>GCA412823082SYN1c.1624G>C (p.Ala542Pro)
c.70+328G>C (n.70+328G>C)
Xg.47574360C>TCA412823084SYN1c.1624G>A (p.Ala542Thr)
c.70+328G>A (n.70+328G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574363delCA2693585181SYN1c.1624del (p.Ala542ArgfsTer?)
c.70+328del (n.70+328del)
 gnomAD v4
Xg.47574361C>ACA516353963SYN1c.1623G>T (p.Gly541=)
c.70+327G>T (n.70+327G>T)
Xg.47574361C>GCA516353964SYN1c.1623G>C (p.Gly541=)
c.70+327G>C (n.70+327G>C)
Xg.47574361C>TCA516353965SYN1c.1623G>A (p.Gly541=)
c.70+327G>A (n.70+327G>A)
 gnomAD v4
Xg.47574362C>ACA412823085SYN1c.1622G>T (p.Gly541Val)
c.70+326G>T (n.70+326G>T)
 gnomAD v4
Xg.47574362C>GCA412823087SYN1c.1622G>C (p.Gly541Ala)
c.70+326G>C (n.70+326G>C)
Xg.47574362C>TCA412823088SYN1c.1622G>A (p.Gly541Glu)
c.70+326G>A (n.70+326G>A)
Xg.47574363C>ACA412823090SYN1c.1621G>T (p.Gly541Trp)
c.70+325G>T (n.70+325G>T)
 gnomAD v4
Xg.47574363C=CA2427971277SYN1c.1621G= (p.Gly541=)
c.70+325G= (n.70+325G=)
Xg.47574363C>GCA231535SYN1c.1621G>C (p.Gly541Arg)
c.70+325G>C (n.70+325G>C)
 ClinVar dbSNP gnomAD v4
Xg.47574363C>TCA412823092SYN1c.1621G>A (p.Gly541Arg)
c.70+325G>A (n.70+325G>A)
 gnomAD v4
Xg.47574364G>ACA516353966SYN1c.1620C>T (p.Pro540=)
c.70+324C>T (n.70+324C>T)
 gnomAD v4
Xg.47574364G>CCA516353967SYN1c.1620C>G (p.Pro540=)
c.70+324C>G (n.70+324C>G)
 gnomAD v4
Xg.47574364G>TCA516353968SYN1c.1620C>A (p.Pro540=)
c.70+324C>A (n.70+324C>A)
 gnomAD v4
Xg.47574367delCA2693585195SYN1c.1620del (p.Ala542ArgfsTer?)
c.70+324del (n.70+324del)
 dbSNP gnomAD v4
Xg.47574365G>ACA412823094SYN1c.1619C>T (p.Pro540Leu)
c.70+323C>T (n.70+323C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574365G>CCA412823096SYN1c.1619C>G (p.Pro540Arg)
c.70+323C>G (n.70+323C>G)
Xg.47574365G=CA2427971278SYN1c.1619C= (p.Pro540=)
c.70+323C= (n.70+323C=)
Xg.47574365G>TCA412823098SYN1c.1619C>A (p.Pro540His)
c.70+323C>A (n.70+323C>A)
 gnomAD v4
Xg.47574366G>ACA412823100SYN1c.1618C>T (p.Pro540Ser)
c.70+322C>T (n.70+322C>T)
 gnomAD v4
Xg.47574366G>CCA412823103SYN1c.1618C>G (p.Pro540Ala)
c.70+322C>G (n.70+322C>G)
Xg.47574366G=CA2427971279SYN1c.1618C= (p.Pro540=)
c.70+322C= (n.70+322C=)
Xg.47574366G>TCA412823102SYN1c.1618C>A (p.Pro540Thr)
c.70+322C>A (n.70+322C>A)
 dbSNP gnomAD v4
Xg.47574367G>ACA516353971SYN1c.1617C>T (p.Gly539=)
c.70+321C>T (n.70+321C>T)
 gnomAD v4
Xg.47574367G>CCA516353969SYN1c.1617C>G (p.Gly539=)
c.70+321C>G (n.70+321C>G)
 gnomAD v4
Xg.47574367G=CA2427971280SYN1c.1617C= (p.Gly539=)
c.70+321C= (n.70+321C=)
Xg.47574367G>TCA516353970SYN1c.1617C>A (p.Gly539=)
c.70+321C>A (n.70+321C>A)
Xg.47574367_47574368dupCA2579596680SYN1c.1616_1617dup (p.Pro540AlafsTer?)
c.70+320_70+321dup (n.70+320_70+321dup)
Xg.47574368C>ACA412823105SYN1c.1616G>T (p.Gly539Val)
c.70+320G>T (n.70+320G>T)
 dbSNP gnomAD v4
Xg.47574368C=CA2427971281SYN1c.1616G= (p.Gly539=)
c.70+320G= (n.70+320G=)
Xg.47574368C>GCA412823106SYN1c.1616G>C (p.Gly539Ala)
c.70+320G>C (n.70+320G>C)
 gnomAD v4
Xg.47574368C>TCA412823108SYN1c.1616G>A (p.Gly539Asp)
c.70+320G>A (n.70+320G>A)
Xg.47574369dupCA645603182SYN1c.1616dup (p.Gly541ArgfsTer?)
c.70+320dup (n.70+320dup)
 dbSNP COSMIC COSMIC
Xg.47574369C>ACA412823110SYN1c.1615G>T (p.Gly539Cys)
c.70+319G>T (n.70+319G>T)
 gnomAD v4
Xg.47574369C=CA2427971282SYN1c.1615G= (p.Gly539=)
c.70+319G= (n.70+319G=)
Xg.47574369C>GCA412823112SYN1c.1615G>C (p.Gly539Arg)
c.70+319G>C (n.70+319G>C)
Xg.47574369C>TCA239960SYN1c.1615G>A (p.Gly539Ser)
c.70+319G>A (n.70+319G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574370T>ACA516353972SYN1c.1614A>T (p.Gly538=)
c.70+318A>T (n.70+318A>T)
 ClinVar gnomAD v4
Xg.47574370T>CCA239957SYN1c.1614A>G (p.Gly538=)
c.70+318A>G (n.70+318A>G)
 ClinVar dbSNP gnomAD v4
Xg.47574370T>GCA516353973SYN1c.1614A>C (p.Gly538=)
c.70+318A>C (n.70+318A>C)
Xg.47574370T=CA2427971283SYN1c.1614A= (p.Gly538=)
c.70+318A= (n.70+318A=)
Xg.47574371C>ACA412823113SYN1c.1613G>T (p.Gly538Val)
c.70+317G>T (n.70+317G>T)
 gnomAD v4
Xg.47574371C>GCA412823114SYN1c.1613G>C (p.Gly538Ala)
c.70+317G>C (n.70+317G>C)
Xg.47574371C>TCA412823115SYN1c.1613G>A (p.Gly538Glu)
c.70+317G>A (n.70+317G>A)
 gnomAD v4
Xg.47574372C>ACA412823116SYN1c.1612G>T (p.Gly538Ter)
c.70+316G>T (n.70+316G>T)
Xg.47574372C>GCA412823117SYN1c.1612G>C (p.Gly538Arg)
c.70+316G>C (n.70+316G>C)
Xg.47574372C>TCA412823118SYN1c.1612G>A (p.Gly538Arg)
c.70+316G>A (n.70+316G>A)
 gnomAD v4
Xg.47574373C>ACA516353974SYN1c.1611G>T (p.Ala537=)
c.70+315G>T (n.70+315G>T)
 gnomAD v4
Xg.47574373C>GCA516353975SYN1c.1611G>C (p.Ala537=)
c.70+315G>C (n.70+315G>C)
Xg.47574373C>TCA516353976SYN1c.1611G>A (p.Ala537=)
c.70+315G>A (n.70+315G>A)
 ClinVar dbSNP gnomAD v4
Xg.47574374G>ACA412823119SYN1c.1610C>T (p.Ala537Val)
c.70+314C>T (n.70+314C>T)
 gnomAD v4
Xg.47574374G>CCA412823121SYN1c.1610C>G (p.Ala537Gly)
c.70+314C>G (n.70+314C>G)
Xg.47574374G>TCA412823120SYN1c.1610C>A (p.Ala537Glu)
c.70+314C>A (n.70+314C>A)
Xg.47574375C>ACA412823122SYN1c.1609G>T (p.Ala537Ser)
c.70+313G>T (n.70+313G>T)
 gnomAD v4
Xg.47574375C=CA2427971284SYN1c.1609G= (p.Ala537=)
c.70+313G= (n.70+313G=)
Xg.47574375C>GCA412823123SYN1c.1609G>C (p.Ala537Pro)
c.70+313G>C (n.70+313G>C)
Xg.47574375C>TCA412823124SYN1c.1609G>A (p.Ala537Thr)
c.70+313G>A (n.70+313G>A)
 ClinVar dbSNP
Xg.47574376C>ACA516353977SYN1c.1608G>T (p.Val536=)
c.70+312G>T (n.70+312G>T)
 gnomAD v4
Xg.47574376C>GCA516353978SYN1c.1608G>C (p.Val536=)
c.70+312G>C (n.70+312G>C)
Xg.47574376C>TCA516353979SYN1c.1608G>A (p.Val536=)
c.70+312G>A (n.70+312G>A)
Xg.47574377A>CCA412823125SYN1c.1607T>G (p.Val536Gly)
c.70+311T>G (n.70+311T>G)
Xg.47574377A>GCA412823126SYN1c.1607T>C (p.Val536Ala)
c.70+311T>C (n.70+311T>C)
Xg.47574377A>TCA412823127SYN1c.1607T>A (p.Val536Glu)
c.70+311T>A (n.70+311T>A)
Xg.47574378C>ACA412823128SYN1c.1606G>T (p.Val536Leu)
c.70+310G>T (n.70+310G>T)
Xg.47574378C>GCA412823129SYN1c.1606G>C (p.Val536Leu)
c.70+310G>C (n.70+310G>C)
Xg.47574378C>TCA412823130SYN1c.1606G>A (p.Val536Met)
c.70+310G>A (n.70+310G>A)
Xg.47574379T>ACA516353980SYN1c.1605A>T (p.Pro535=)
c.70+309A>T (n.70+309A>T)
Xg.47574379T>CCA329057320SYN1c.1605A>G (p.Pro535=)
c.70+309A>G (n.70+309A>G)
 dbSNP
Xg.47574379T>GCA516353981SYN1c.1605A>C (p.Pro535=)
c.70+309A>C (n.70+309A>C)
Xg.47574379T=CA2427971285SYN1c.1605A= (p.Pro535=)
c.70+309A= (n.70+309A=)
Xg.47574380G>ACA412823131SYN1c.1604C>T (p.Pro535Leu)
c.70+308C>T (n.70+308C>T)
 gnomAD v4
Xg.47574380G>CCA412823133SYN1c.1604C>G (p.Pro535Arg)
c.70+308C>G (n.70+308C>G)
Xg.47574380G>TCA412823132SYN1c.1604C>A (p.Pro535Gln)
c.70+308C>A (n.70+308C>A)
 gnomAD v4
Xg.47574381G>ACA412823134SYN1c.1603C>T (p.Pro535Ser)
c.70+307C>T (n.70+307C>T)
 gnomAD v4
Xg.47574381G>CCA412823136SYN1c.1603C>G (p.Pro535Ala)
c.70+307C>G (n.70+307C>G)
Xg.47574381G>TCA412823135SYN1c.1603C>A (p.Pro535Thr)
c.70+307C>A (n.70+307C>A)
Xg.47574382C>ACA516353982SYN1c.1602G>T (p.Arg534=)
c.70+306G>T (n.70+306G>T)
 dbSNP gnomAD v4
Xg.47574382C>GCA516353983SYN1c.1602G>C (p.Arg534=)
c.70+306G>C (n.70+306G>C)
Xg.47574382C>TCA516353984SYN1c.1602G>A (p.Arg534=)
c.70+306G>A (n.70+306G>A)
Xg.47574383C>ACA412823137SYN1c.1601G>T (p.Arg534Leu)
c.70+305G>T (n.70+305G>T)
Xg.47574383C>GCA412823139SYN1c.1601G>C (p.Arg534Pro)
c.70+305G>C (n.70+305G>C)
Xg.47574383C>TCA412823138SYN1c.1601G>A (p.Arg534Gln)
c.70+305G>A (n.70+305G>A)
 gnomAD v4
Xg.47574384G>ACA412823141SYN1c.1600C>T (p.Arg534Trp)
c.70+304C>T (n.70+304C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574384G>CCA412823142SYN1c.1600C>G (p.Arg534Gly)
c.70+304C>G (n.70+304C>G)
 gnomAD v4
Xg.47574384G=CA2427971286SYN1c.1600C= (p.Arg534=)
c.70+304C= (n.70+304C=)
Xg.47574384G>TCA516353985SYN1c.1600C>A (p.Arg534=)
c.70+304C>A (n.70+304C>A)
 gnomAD v4
Xg.47574385G>ACA516353986SYN1c.1599C>T (p.Ser533=)
c.70+303C>T (n.70+303C>T)
 gnomAD v4
Xg.47574385G>CCA516353987SYN1c.1599C>G (p.Ser533=)
c.70+303C>G (n.70+303C>G)
Xg.47574385G>TCA516353988SYN1c.1599C>A (p.Ser533=)
c.70+303C>A (n.70+303C>A)
 gnomAD v4
Xg.47574386G>ACA412823145SYN1c.1598C>T (p.Ser533Phe)
c.70+302C>T (n.70+302C>T)
Xg.47574386G>CCA412823147SYN1c.1598C>G (p.Ser533Cys)
c.70+302C>G (n.70+302C>G)
Xg.47574386G=CA2427971287SYN1c.1598C= (p.Ser533=)
c.70+302C= (n.70+302C=)
Xg.47574386G>TCA412823148SYN1c.1598C>A (p.Ser533Tyr)
c.70+302C>A (n.70+302C>A)
 dbSNP
Xg.47574387A>CCA412823150SYN1c.1597T>G (p.Ser533Ala)
c.70+301T>G (n.70+301T>G)
Xg.47574387A>GCA412823152SYN1c.1597T>C (p.Ser533Pro)
c.70+301T>C (n.70+301T>C)
Xg.47574387A>TCA412823153SYN1c.1597T>A (p.Ser533Thr)
c.70+301T>A (n.70+301T>A)
 gnomAD v4
Xg.47574388T>ACA412823154SYN1c.1596A>T (p.Gln532His)
c.70+300A>T (n.70+300A>T)
Xg.47574388T>CCA516353989SYN1c.1596A>G (p.Gln532=)
c.70+300A>G (n.70+300A>G)
 gnomAD v4
Xg.47574388T>GCA412823156SYN1c.1596A>C (p.Gln532His)
c.70+300A>C (n.70+300A>C)
Xg.47574389T>ACA412823158SYN1c.1595A>T (p.Gln532Leu)
c.70+299A>T (n.70+299A>T)
Xg.47574389T>CCA412823160SYN1c.1595A>G (p.Gln532Arg)
c.70+299A>G (n.70+299A>G)
Xg.47574389T>GCA412823161SYN1c.1595A>C (p.Gln532Pro)
c.70+299A>C (n.70+299A>C)
Xg.47574390G>ACA412823162SYN1c.1594C>T (p.Gln532Ter)
c.70+298C>T (n.70+298C>T)
 ClinVar
Xg.47574390G>CCA412823166SYN1c.1594C>G (p.Gln532Glu)
c.70+298C>G (n.70+298C>G)
Xg.47574390G>TCA412823164SYN1c.1594C>A (p.Gln532Lys)
c.70+298C>A (n.70+298C>A)
 gnomAD v4
Xg.47574391G>ACA516353990SYN1c.1593C>T (p.Arg531=)
c.70+297C>T (n.70+297C>T)
 gnomAD v4
Xg.47574391G>CCA516353991SYN1c.1593C>G (p.Arg531=)
c.70+297C>G (n.70+297C>G)
Xg.47574391G>TCA516353992SYN1c.1593C>A (p.Arg531=)
c.70+297C>A (n.70+297C>A)
 gnomAD v4
Xg.47574392C>ACA412823168SYN1c.1592G>T (p.Arg531Leu)
c.70+296G>T (n.70+296G>T)
 gnomAD v4
Xg.47574392C>GCA412823169SYN1c.1592G>C (p.Arg531Pro)
c.70+296G>C (n.70+296G>C)
Xg.47574392C>TCA412823170SYN1c.1592G>A (p.Arg531His)
c.70+296G>A (n.70+296G>A)
 ClinVar dbSNP gnomAD v4
Xg.47574393G>ACA412823172SYN1c.1591C>T (p.Arg531Cys)
c.70+295C>T (n.70+295C>T)
Xg.47574393G>CCA412823174SYN1c.1591C>G (p.Arg531Gly)
c.70+295C>G (n.70+295C>G)
Xg.47574393G>TCA412823176SYN1c.1591C>A (p.Arg531Ser)
c.70+295C>A (n.70+295C>A)
 gnomAD v4
Xg.47574394G>ACA516353993SYN1c.1590C>T (p.Gly530=)
c.70+294C>T (n.70+294C>T)
 gnomAD v4
Xg.47574394G>CCA516353995SYN1c.1590C>G (p.Gly530=)
c.70+294C>G (n.70+294C>G)
Xg.47574394G>TCA516353994SYN1c.1590C>A (p.Gly530=)
c.70+294C>A (n.70+294C>A)
Xg.47574395C>ACA412823178SYN1c.1589G>T (p.Gly530Val)
c.70+293G>T (n.70+293G>T)
 gnomAD v4
Xg.47574395C=CA2427971288SYN1c.1589G= (p.Gly530=)
c.70+293G= (n.70+293G=)
Xg.47574395C>GCA412823180SYN1c.1589G>C (p.Gly530Ala)
c.70+293G>C (n.70+293G>C)
Xg.47574395C>TCA412823181SYN1c.1589G>A (p.Gly530Asp)
c.70+293G>A (n.70+293G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574396C>ACA412823187SYN1c.1588G>T (p.Gly530Cys)
c.70+292G>T (n.70+292G>T)
 gnomAD v4
Xg.47574396C>GCA412823185SYN1c.1588G>C (p.Gly530Arg)
c.70+292G>C (n.70+292G>C)
Xg.47574396C>TCA412823183SYN1c.1588G>A (p.Gly530Ser)
c.70+292G>A (n.70+292G>A)
 gnomAD v4
Xg.47574397T>ACA412823188SYN1c.1587A>T (p.Gln529His)
c.70+291A>T (n.70+291A>T)
 gnomAD v4
Xg.47574397T>CCA516353996SYN1c.1587A>G (p.Gln529=)
c.70+291A>G (n.70+291A>G)
Xg.47574397T>GCA412823189SYN1c.1587A>C (p.Gln529His)
c.70+291A>C (n.70+291A>C)
Xg.47574398T>ACA412823191SYN1c.1586A>T (p.Gln529Leu)
c.70+290A>T (n.70+290A>T)
Xg.47574398T>CCA412823193SYN1c.1586A>G (p.Gln529Arg)
c.70+290A>G (n.70+290A>G)
Xg.47574398T>GCA412823195SYN1c.1586A>C (p.Gln529Pro)
c.70+290A>C (n.70+290A>C)
Xg.47574399G>ACA412823197SYN1c.1585C>T (p.Gln529Ter)
c.70+289C>T (n.70+289C>T)
Xg.47574399G>CCA412823199SYN1c.1585C>G (p.Gln529Glu)
c.70+289C>G (n.70+289C>G)
Xg.47574399G>TCA412823200SYN1c.1585C>A (p.Gln529Lys)
c.70+289C>A (n.70+289C>A)
 gnomAD v4
Xg.47574400A>CCA516353997SYN1c.1584T>G (p.Gly528=)
c.70+288T>G (n.70+288T>G)
Xg.47574400A>GCA516353998SYN1c.1584T>C (p.Gly528=)
c.70+288T>C (n.70+288T>C)
 gnomAD v4
Xg.47574400A>TCA516353999SYN1c.1584T>A (p.Gly528=)
c.70+288T>A (n.70+288T>A)
Xg.47574401C>ACA412823202SYN1c.1583G>T (p.Gly528Val)
c.70+287G>T (n.70+287G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574401C=CA2427971289SYN1c.1583G= (p.Gly528=)
c.70+287G= (n.70+287G=)
Xg.47574401C>GCA412823204SYN1c.1583G>C (p.Gly528Ala)
c.70+287G>C (n.70+287G>C)
Xg.47574401C>TCA412823206SYN1c.1583G>A (p.Gly528Asp)
c.70+287G>A (n.70+287G>A)
Xg.47574402C>ACA412823210SYN1c.1582G>T (p.Gly528Cys)
c.70+286G>T (n.70+286G>T)
Xg.47574402C>GCA412823208SYN1c.1582G>C (p.Gly528Arg)
c.70+286G>C (n.70+286G>C)
Xg.47574402C>TCA412823207SYN1c.1582G>A (p.Gly528Ser)
c.70+286G>A (n.70+286G>A)
Xg.47574403C>ACA412823211SYN1c.1581G>T (p.Gln527His)
c.70+285G>T (n.70+285G>T)
 gnomAD v4
Xg.47574403C=CA2427971290SYN1c.1581G= (p.Gln527=)
c.70+285G= (n.70+285G=)
Xg.47574403C>GCA412823213SYN1c.1581G>C (p.Gln527His)
c.70+285G>C (n.70+285G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574403C>TCA516354000SYN1c.1581G>A (p.Gln527=)
c.70+285G>A (n.70+285G>A)
Xg.47574404T>ACA412823214SYN1c.1580A>T (p.Gln527Leu)
c.70+284A>T (n.70+284A>T)
Xg.47574404T>CCA412823216SYN1c.1580A>G (p.Gln527Arg)
c.70+284A>G (n.70+284A>G)
 gnomAD v4
Xg.47574404T>GCA412823217SYN1c.1580A>C (p.Gln527Pro)
c.70+284A>C (n.70+284A>C)
Xg.47574405G>ACA412823219SYN1c.1579C>T (p.Gln527Ter)
c.70+283C>T (n.70+283C>T)
Xg.47574405G>CCA412823221SYN1c.1579C>G (p.Gln527Glu)
c.70+283C>G (n.70+283C>G)
Xg.47574405G>TCA412823222SYN1c.1579C>A (p.Gln527Lys)
c.70+283C>A (n.70+283C>A)
Xg.47574407delCA2501666735SYN1c.1579del (p.Gln527ArgfsTer?)
c.70+283del (n.70+283del)
Xg.47574406G>ACA516354001SYN1c.1578C>T (p.Thr526=)
c.70+282C>T (n.70+282C>T)
Xg.47574406G>CCA329057324SYN1c.1578C>G (p.Thr526=)
c.70+282C>G (n.70+282C>G)
 ClinVar dbSNP gnomAD v2
Xg.47574406G=CA2427971291SYN1c.1578C= (p.Thr526=)
c.70+282C= (n.70+282C=)
Xg.47574406G>TCA516354002SYN1c.1578C>A (p.Thr526=)
c.70+282C>A (n.70+282C>A)
 gnomAD v4
Xg.47574407G>ACA412823225SYN1c.1577C>T (p.Thr526Ile)
c.70+281C>T (n.70+281C>T)
 ClinVar dbSNP
Xg.47574407G>CCA412823226SYN1c.1577C>G (p.Thr526Ser)
c.70+281C>G (n.70+281C>G)
 gnomAD v4
Xg.47574407G>TCA412823227SYN1c.1577C>A (p.Thr526Asn)
c.70+281C>A (n.70+281C>A)
 gnomAD v4
Xg.47574408T>ACA412823232SYN1c.1576A>T (p.Thr526Ser)
c.70+280A>T (n.70+280A>T)
 gnomAD v4
Xg.47574408T>CCA412823230SYN1c.1576A>G (p.Thr526Ala)
c.70+280A>G (n.70+280A>G)
Xg.47574408T>GCA412823229SYN1c.1576A>C (p.Thr526Pro)
c.70+280A>C (n.70+280A>C)
Xg.47574409C>ACA516354003SYN1c.1575G>T (p.Pro525=)
c.70+279G>T (n.70+279G>T)
 gnomAD v4
Xg.47574409C=CA2427971292SYN1c.1575G= (p.Pro525=)
c.70+279G= (n.70+279G=)
Xg.47574409C>GCA516354004SYN1c.1575G>C (p.Pro525=)
c.70+279G>C (n.70+279G>C)
 gnomAD v4
Xg.47574409C>TCA10398348SYN1c.1575G>A (p.Pro525=)
c.70+279G>A (n.70+279G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574410G>ACA412823245SYN1c.1574C>T (p.Pro525Leu)
c.70+278C>T (n.70+278C>T)
 gnomAD v4
Xg.47574410G>CCA412823235SYN1c.1574C>G (p.Pro525Arg)
c.70+278C>G (n.70+278C>G)
 gnomAD v4
Xg.47574410G>TCA412823243SYN1c.1574C>A (p.Pro525Gln)
c.70+278C>A (n.70+278C>A)
Xg.47574411G>ACA412823249SYN1c.1573C>T (p.Pro525Ser)
c.70+277C>T (n.70+277C>T)
 gnomAD v4
Xg.47574411G>CCA412823251SYN1c.1573C>G (p.Pro525Ala)
c.70+277C>G (n.70+277C>G)
Xg.47574411G>TCA412823253SYN1c.1573C>A (p.Pro525Thr)
c.70+277C>A (n.70+277C>A)
 gnomAD v4
Xg.47574412C>ACA516354005SYN1c.1572G>T (p.Pro524=)
c.70+276G>T (n.70+276G>T)
Xg.47574412C>GCA516354006SYN1c.1572G>C (p.Pro524=)
c.70+276G>C (n.70+276G>C)
Xg.47574412C>TCA516354007SYN1c.1572G>A (p.Pro524=)
c.70+276G>A (n.70+276G>A)
 gnomAD v4
Xg.47574413G>ACA412823257SYN1c.1571C>T (p.Pro524Leu)
c.70+275C>T (n.70+275C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574413G>CCA412823269SYN1c.1571C>G (p.Pro524Arg)
c.70+275C>G (n.70+275C>G)
Xg.47574413G=CA2427971293SYN1c.1571C= (p.Pro524=)
c.70+275C= (n.70+275C=)
Xg.47574413G>TCA412823270SYN1c.1571C>A (p.Pro524Gln)
c.70+275C>A (n.70+275C>A)
 gnomAD v4
Xg.47574414G>ACA412823273SYN1c.1570C>T (p.Pro524Ser)
c.70+274C>T (n.70+274C>T)
 gnomAD v4
Xg.47574414G>CCA412823275SYN1c.1570C>G (p.Pro524Ala)
c.70+274C>G (n.70+274C>G)
Xg.47574414G>TCA412823277SYN1c.1570C>A (p.Pro524Thr)
c.70+274C>A (n.70+274C>A)
Xg.47574415C>ACA516354008SYN1c.1569G>T (p.Ala523=)
c.70+273G>T (n.70+273G>T)
 gnomAD v4
Xg.47574415C=CA2427971294SYN1c.1569G= (p.Ala523=)
c.70+273G= (n.70+273G=)
Xg.47574415C>GCA516354009SYN1c.1569G>C (p.Ala523=)
c.70+273G>C (n.70+273G>C)
 gnomAD v4
Xg.47574415C>TCA293844SYN1c.1569G>A (p.Ala523=)
c.70+273G>A (n.70+273G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574416G>ACA412823287SYN1c.1568C>T (p.Ala523Val)
c.70+272C>T (n.70+272C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574416G>CCA412823283SYN1c.1568C>G (p.Ala523Gly)
c.70+272C>G (n.70+272C>G)
Xg.47574416G=CA2427971295SYN1c.1568C= (p.Ala523=)
c.70+272C= (n.70+272C=)
Xg.47574416G>TCA412823285SYN1c.1568C>A (p.Ala523Glu)
c.70+272C>A (n.70+272C>A)
Xg.47574417C>ACA412823289SYN1c.1567G>T (p.Ala523Ser)
c.70+271G>T (n.70+271G>T)
 gnomAD v4
Xg.47574417C>GCA412823292SYN1c.1567G>C (p.Ala523Pro)
c.70+271G>C (n.70+271G>C)
Xg.47574417C>TCA412823294SYN1c.1567G>A (p.Ala523Thr)
c.70+271G>A (n.70+271G>A)
 gnomAD v4
Xg.47574418G>ACA516354010SYN1c.1566C>T (p.Ala522=)
c.70+270C>T (n.70+270C>T)
 gnomAD v4
Xg.47574418G>CCA516354011SYN1c.1566C>G (p.Ala522=)
c.70+270C>G (n.70+270C>G)
Xg.47574418G>TCA516354012SYN1c.1566C>A (p.Ala522=)
c.70+270C>A (n.70+270C>A)
Xg.47574419delCA2820775725SYN1c.1566del (p.Ala523ArgfsTer?)
c.70+270del (n.70+270del)

Number of alleles fetched