Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50627117_50627145delCA2657593763ARSAc.465+26_465+54del (n.465+26_465+54del)
c.207+26_207+54del (n.207+26_207+54del)
n.882_910del
 gnomAD v4
22g.50627124T>GCA10325017ARSAc.465+42A>C (n.465+42A>C)
c.207+42A>C (n.207+42A>C)
n.898A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627124T=CA2410959427ARSAc.465+42A= (n.465+42A=)
c.207+42A= (n.207+42A=)
n.898A=
22g.50627125T>GCA10325018ARSAc.465+41A>C (n.465+41A>C)
c.207+41A>C (n.207+41A>C)
n.897A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627125T=CA2410959428ARSAc.465+41A= (n.465+41A=)
c.207+41A= (n.207+41A=)
n.897A=
22g.50627126G>ACA640358568ARSAc.465+40C>T (n.465+40C>T)
c.207+40C>T (n.207+40C>T)
n.896C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627126G=CA2410959429ARSAc.465+40C= (n.465+40C=)
c.207+40C= (n.207+40C=)
n.896C=
22g.50627128G>TCA2657593778ARSAc.465+38C>A (n.465+38C>A)
c.207+38C>A (n.207+38C>A)
n.894C>A
 gnomAD v4
22g.50627129A>GCA2577767856ARSAc.465+37T>C (n.465+37T>C)
c.207+37T>C (n.207+37T>C)
n.893T>C
22g.50627129A>TCA2819316602ARSAc.465+37T>A (n.465+37T>A)
c.207+37T>A (n.207+37T>A)
n.893T>A
22g.50627130G>ACA10325019ARSAc.465+36C>T (n.465+36C>T)
c.207+36C>T (n.207+36C>T)
n.892C>T
 dbSNP ExAC gnomAD v2
22g.50627130G=CA2410959430ARSAc.465+36C= (n.465+36C=)
c.207+36C= (n.207+36C=)
n.892C=
22g.50627131G>ACA325531568ARSAc.465+35C>T (n.465+35C>T)
c.207+35C>T (n.207+35C>T)
n.891C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627131G=CA2410959431ARSAc.465+35C= (n.465+35C=)
c.207+35C= (n.207+35C=)
n.891C=
22g.50627132T>ACA325531569ARSAc.465+34A>T (n.465+34A>T)
c.207+34A>T (n.207+34A>T)
n.890A>T
 dbSNP gnomAD v3 gnomAD v4
22g.50627132T>CCA2657593782ARSAc.465+34A>G (n.465+34A>G)
c.207+34A>G (n.207+34A>G)
n.890A>G
 gnomAD v4
22g.50627132T>GCA657868357ARSAc.465+34A>C (n.465+34A>C)
c.207+34A>C (n.207+34A>C)
n.890A>C
 dbSNP gnomAD v3 gnomAD v4
22g.50627132T=CA2410959432ARSAc.465+34A= (n.465+34A=)
c.207+34A= (n.207+34A=)
n.890A=
22g.50627133G>CCA754070121ARSAc.465+33C>G (n.465+33C>G)
c.207+33C>G (n.207+33C>G)
n.889C>G
 dbSNP gnomAD v4
22g.50627133G=CA2410959433ARSAc.465+33C= (n.465+33C=)
c.207+33C= (n.207+33C=)
n.889C=
22g.50627134G>ACA2657593787ARSAc.465+32C>T (n.465+32C>T)
c.207+32C>T (n.207+32C>T)
n.888C>T
 gnomAD v4
22g.50627135G>ACA10325020ARSAc.465+31C>T (n.465+31C>T)
c.207+31C>T (n.207+31C>T)
n.887C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627135G=CA2410959434ARSAc.465+31C= (n.465+31C=)
c.207+31C= (n.207+31C=)
n.887C=
22g.50627135G>TCA2657593790ARSAc.465+31C>A (n.465+31C>A)
c.207+31C>A (n.207+31C>A)
n.887C>A
 gnomAD v4
22g.50627137G>ACA640358676ARSAc.465+29C>T (n.465+29C>T)
c.207+29C>T (n.207+29C>T)
n.885C>T
 dbSNP gnomAD v2 gnomAD v4
22g.50627137G=CA2410959435ARSAc.465+29C= (n.465+29C=)
c.207+29C= (n.207+29C=)
n.885C=
22g.50627137G>TCA2657593791ARSAc.465+29C>A (n.465+29C>A)
c.207+29C>A (n.207+29C>A)
n.885C>A
 gnomAD v4
22g.50627138G>ACA2657593792ARSAc.465+28C>T (n.465+28C>T)
c.207+28C>T (n.207+28C>T)
n.884C>T
 gnomAD v4
22g.50627138G>CCA2657593794ARSAc.465+28C>G (n.465+28C>G)
c.207+28C>G (n.207+28C>G)
n.884C>G
 gnomAD v4
22g.50627139G>CCA2410959437ARSAc.465+27C>G (n.465+27C>G)
c.207+27C>G (n.207+27C>G)
n.883C>G
 dbSNP
22g.50627139G=CA2410959436ARSAc.465+27C= (n.465+27C=)
c.207+27C= (n.207+27C=)
n.883C=
22g.50627140T>CCA640358677ARSAc.465+26A>G (n.465+26A>G)
c.207+26A>G (n.207+26A>G)
n.882A>G
 dbSNP gnomAD v2 gnomAD v4
22g.50627140T>GCA2410959439ARSAc.465+26A>C (n.465+26A>C)
c.207+26A>C (n.207+26A>C)
n.882A>C
 dbSNP
22g.50627140T=CA2410959438ARSAc.465+26A= (n.465+26A=)
c.207+26A= (n.207+26A=)
n.882A=
22g.50627141G>ACA657868369ARSAc.465+25C>T (n.465+25C>T)
c.207+25C>T (n.207+25C>T)
n.881C>T
 gnomAD v4 COSMIC
22g.50627142G>ACA10325021ARSAc.465+24C>T (n.465+24C>T)
c.207+24C>T (n.207+24C>T)
n.880C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627142G=CA2410959440ARSAc.465+24C= (n.465+24C=)
c.207+24C= (n.207+24C=)
n.880C=
22g.50627143C>ACA657868371ARSAc.465+23G>T (n.465+23G>T)
c.207+23G>T (n.207+23G>T)
n.879G>T
 COSMIC
22g.50627143C=CA2410959441ARSAc.465+23G= (n.465+23G=)
c.207+23G= (n.207+23G=)
n.879G=
22g.50627143C>GCA640358678ARSAc.465+23G>C (n.465+23G>C)
c.207+23G>C (n.207+23G>C)
n.879G>C
 dbSNP gnomAD v2 gnomAD v4
22g.50627145G>CCA2819316606ARSAc.465+21C>G (n.465+21C>G)
c.207+21C>G (n.207+21C>G)
n.877C>G
22g.50627145G>TCA2657593799ARSAc.465+21C>A (n.465+21C>A)
c.207+21C>A (n.207+21C>A)
n.877C>A
 gnomAD v4
22g.50627146delCA2657593800ARSAc.465+20del (n.465+20del)
c.207+20del (n.207+20del)
n.876del
 ClinVar gnomAD v4
22g.50627147G>ACA640358679ARSAc.465+19C>T (n.465+19C>T)
c.207+19C>T (n.207+19C>T)
n.875C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627147G=CA2410959442ARSAc.465+19C= (n.465+19C=)
c.207+19C= (n.207+19C=)
n.875C=
22g.50627149delCA2657593804ARSAc.465+19del (n.465+19del)
c.207+19del (n.207+19del)
n.875del
 gnomAD v4
22g.50627148G>ACA325531571ARSAc.465+18C>T (n.465+18C>T)
c.207+18C>T (n.207+18C>T)
n.874C>T
 dbSNP
22g.50627148G=CA2410959443ARSAc.465+18C= (n.465+18C=)
c.207+18C= (n.207+18C=)
n.874C=
22g.50627148G>TCA657868374ARSAc.465+18C>A (n.465+18C>A)
c.207+18C>A (n.207+18C>A)
n.874C>A
 gnomAD v4 COSMIC
22g.50627148_50627149insACA2580099984ARSAc.465+17_465+18insT (n.465+17_465+18insT)
c.207+17_207+18insT (n.207+17_207+18insT)
n.873_874insT
 ClinVar gnomAD v4
22g.50627149G>ACA2580099985ARSAc.465+17C>T (n.465+17C>T)
c.207+17C>T (n.207+17C>T)
n.873C>T
 ClinVar gnomAD v4
22g.50627150C>ACA2697552822ARSAc.465+16G>T (n.465+16G>T)
c.207+16G>T (n.207+16G>T)
n.872G>T
 ClinVar
22g.50627150C=CA2410959444ARSAc.465+16G= (n.465+16G=)
c.207+16G= (n.207+16G=)
n.872G=
22g.50627150C>TCA640358680ARSAc.465+16G>A (n.465+16G>A)
c.207+16G>A (n.207+16G>A)
n.872G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627152dupCA2657593812ARSAc.465+16dup (n.465+16dup)
c.207+16dup (n.207+16dup)
n.872dup
 gnomAD v4
22g.50627151C=CA2410959445ARSAc.465+15G= (n.465+15G=)
c.207+15G= (n.207+15G=)
n.871G=
22g.50627151C>TCA10325022ARSAc.465+15G>A (n.465+15G>A)
c.207+15G>A (n.207+15G>A)
n.871G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627152C=CA2410959446ARSAc.465+14G= (n.465+14G=)
c.207+14G= (n.207+14G=)
n.870G=
22g.50627152C>TCA10325023ARSAc.465+14G>A (n.465+14G>A)
c.207+14G>A (n.207+14G>A)
n.870G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627152_50627153delinsCGCA2410959447ARSAc.465+13_465+14delinsCG (n.465+13_465+14delinsCG)
c.207+13_207+14delinsCG (n.207+13_207+14delinsCG)
n.869_870delinsCG
22g.50627153G>ACA10325024ARSAc.465+13C>T (n.465+13C>T)
c.207+13C>T (n.207+13C>T)
n.869C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627153G=CA2410959448ARSAc.465+13C= (n.465+13C=)
c.207+13C= (n.207+13C=)
n.869C=
22g.50627153G>TCA10325025ARSAc.465+13C>A (n.465+13C>A)
c.207+13C>A (n.207+13C>A)
n.869C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627155delCA1026681238ARSAc.465+13del (n.465+13del)
c.207+13del (n.207+13del)
n.869del
 dbSNP gnomAD v3 gnomAD v4
22g.50627154G>ACA1026681244ARSAc.465+12C>T (n.465+12C>T)
c.207+12C>T (n.207+12C>T)
n.868C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50627154G=CA2410959449ARSAc.465+12C= (n.465+12C=)
c.207+12C= (n.207+12C=)
n.868C=
22g.50627155G>CCA1026681249ARSAc.465+11C>G (n.465+11C>G)
c.207+11C>G (n.207+11C>G)
n.867C>G
 dbSNP gnomAD v3 gnomAD v4
22g.50627155G=CA2410959450ARSAc.465+11C= (n.465+11C=)
c.207+11C= (n.207+11C=)
n.867C=
22g.50627156T>GCA2410959452ARSAc.465+10A>C (n.465+10A>C)
c.207+10A>C (n.207+10A>C)
n.866A>C
 ClinVar dbSNP
22g.50627156T=CA2410959451ARSAc.465+10A= (n.465+10A=)
c.207+10A= (n.207+10A=)
n.866A=
22g.50627156_50627157delinsTGCA2410959453ARSAc.465+9_465+10delinsCA (n.465+9_465+10delinsCA)
c.207+9_207+10delinsCA (n.207+9_207+10delinsCA)
n.865_866delinsCA
22g.50627157G>ACA10325026ARSAc.465+9C>T (n.465+9C>T)
c.207+9C>T (n.207+9C>T)
n.865C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627157G=CA2410959454ARSAc.465+9C= (n.465+9C=)
c.207+9C= (n.207+9C=)
n.865C=
22g.50627158delCA1026681254ARSAc.465+9del (n.465+9del)
c.207+9del (n.207+9del)
n.865del
 dbSNP gnomAD v3 gnomAD v4
22g.50627158G>ACA2573158320ARSAc.465+8C>T (n.465+8C>T)
c.207+8C>T (n.207+8C>T)
n.864C>T
 ClinVar dbSNP
22g.50627158G>TCA2573158319ARSAc.465+8C>A (n.465+8C>A)
c.207+8C>A (n.207+8C>A)
n.864C>A
 ClinVar dbSNP
22g.50627159T>CCA1026681256ARSAc.465+7A>G (n.465+7A>G)
c.207+7A>G (n.207+7A>G)
n.863A>G
 dbSNP gnomAD v3 gnomAD v4
22g.50627159T>GCA325531573ARSAc.465+7A>C (n.465+7A>C)
c.207+7A>C (n.207+7A>C)
n.863A>C
 dbSNP gnomAD v3 gnomAD v4
22g.50627159T=CA2410959455ARSAc.465+7A= (n.465+7A=)
c.207+7A= (n.207+7A=)
n.863A=
22g.50627160T>CCA640358681ARSAc.465+6A>G (n.465+6A>G)
c.207+6A>G (n.207+6A>G)
n.862A>G
 dbSNP gnomAD v2 gnomAD v4
22g.50627160T=CA2410959456ARSAc.465+6A= (n.465+6A=)
c.207+6A= (n.207+6A=)
n.862A=
22g.50627161C>ACA2657593828ARSAc.465+5G>T (n.465+5G>T)
c.207+5G>T (n.207+5G>T)
n.861G>T
 gnomAD v4
22g.50627161C=CA2410959457ARSAc.465+5G= (n.465+5G=)
c.207+5G= (n.207+5G=)
n.861G=
22g.50627161C>GCA2410959458ARSAc.465+5G>C (n.465+5G>C)
c.207+5G>C (n.207+5G>C)
n.861G>C
 dbSNP gnomAD v4
22g.50627161C>TCA10325027ARSAc.465+5G>A (n.465+5G>A)
c.207+5G>A (n.207+5G>A)
n.861G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627162C=CA2410959459ARSAc.465+4G= (n.465+4G=)
c.207+4G= (n.207+4G=)
n.860G=
22g.50627162C>TCA10325028ARSAc.465+4G>A (n.465+4G>A)
c.207+4G>A (n.207+4G>A)
n.860G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627163T>CCA2410959461ARSAc.465+3A>G (n.465+3A>G)
c.207+3A>G (n.207+3A>G)
n.859A>G
 ClinVar dbSNP
22g.50627163T=CA2410959460ARSAc.465+3A= (n.465+3A=)
c.207+3A= (n.207+3A=)
n.859A=
22g.50627164A=CA2410959462ARSAc.465+2T= (n.465+2T=)
c.207+2T= (n.207+2T=)
n.858T=
22g.50627164A>CCA412179885ARSAc.465+2T>G (n.465+2T>G)
c.207+2T>G (n.207+2T>G)
n.858T>G
22g.50627164A>GCA412179888ARSAc.465+2T>C (n.465+2T>C)
c.207+2T>C (n.207+2T>C)
n.858T>C
22g.50627164A>TCA412179890ARSAc.465+2T>A (n.465+2T>A)
c.207+2T>A (n.207+2T>A)
n.858T>A
 ClinVar dbSNP
22g.50627165C>ACA412179894ARSAc.465+1G>T (n.465+1G>T)
c.207+1G>T (n.207+1G>T)
n.857G>T
22g.50627165C=CA2410959463ARSAc.465+1G= (n.465+1G=)
c.207+1G= (n.207+1G=)
n.857G=
22g.50627165C>GCA412179895ARSAc.465+1G>C (n.465+1G>C)
c.207+1G>C (n.207+1G>C)
n.857G>C
22g.50627165C>TCA215122ARSAc.465+1G>A (n.465+1G>A)
c.207+1G>A (n.207+1G>A)
n.857G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627166C>ACA412179897ARSAc.465G>T (p.Gln155His)
c.207G>T (p.Gln69His)
n.856G>T
22g.50627166C=CA2410959464ARSAc.465G= (p.Gln155=)
c.207G= (p.Gln69=)
n.856G=
22g.50627166C>GCA219028ARSAc.465G>C (p.Gln155His)
c.207G>C (p.Gln69His)
n.856G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627166C>TCA233477ARSAc.465G>A (p.Gln155=)
c.207G>A (p.Gln69=)
n.856G>A
 ClinVar dbSNP
22g.50627167T>ACA412179923ARSAc.464A>T (p.Gln155Leu)
c.206A>T (p.Gln69Leu)
n.855A>T
22g.50627167T>CCA412179917ARSAc.464A>G (p.Gln155Arg)
c.206A>G (p.Gln69Arg)
n.855A>G
 gnomAD v4
22g.50627167T>GCA412179915ARSAc.464A>C (p.Gln155Pro)
c.206A>C (p.Gln69Pro)
n.855A>C
22g.50627168G>ACA412179928ARSAc.463C>T (p.Gln155Ter)
c.205C>T (p.Gln69Ter)
n.854C>T
22g.50627168G>CCA412179930ARSAc.463C>G (p.Gln155Glu)
c.205C>G (p.Gln69Glu)
n.854C>G
22g.50627168G>TCA412179933ARSAc.463C>A (p.Gln155Lys)
c.205C>A (p.Gln69Lys)
n.854C>A
22g.50627169G>ACA10325029ARSAc.462C>T (p.Asp154=)
c.204C>T (p.Asp68=)
n.853C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627169G>CCA412179940ARSAc.462C>G (p.Asp154Glu)
c.204C>G (p.Asp68Glu)
n.853C>G
22g.50627169G=CA2410959465ARSAc.462C= (p.Asp154=)
c.204C= (p.Asp68=)
n.853C=
22g.50627169G>TCA412179942ARSAc.462C>A (p.Asp154Glu)
c.204C>A (p.Asp68Glu)
n.853C>A
22g.50627170T>ACA412179947ARSAc.461A>T (p.Asp154Val)
c.203A>T (p.Asp68Val)
n.852A>T
22g.50627170T>CCA412179951ARSAc.461A>G (p.Asp154Gly)
c.203A>G (p.Asp68Gly)
n.852A>G
22g.50627170T>GCA412179953ARSAc.461A>C (p.Asp154Ala)
c.203A>C (p.Asp68Ala)
n.852A>C
22g.50627171C>ACA219026ARSAc.460G>T (p.Asp154Tyr)
c.202G>T (p.Asp68Tyr)
n.851G>T
 ClinVar dbSNP
22g.50627171C=CA2410959466ARSAc.460G= (p.Asp154=)
c.202G= (p.Asp68=)
n.851G=
22g.50627171C>GCA10325030ARSAc.460G>C (p.Asp154His)
c.202G>C (p.Asp68His)
n.851G>C
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
22g.50627171C>TCA412179968ARSAc.460G>A (p.Asp154Asn)
c.202G>A (p.Asp68Asn)
n.851G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627172G>ACA146673ARSAc.459C>T (p.His153=)
c.201C>T (p.His67=)
n.850C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627172G>CCA412179975ARSAc.459C>G (p.His153Gln)
c.201C>G (p.His67Gln)
n.850C>G
22g.50627172G=CA2410959467ARSAc.459C= (p.His153=)
c.201C= (p.His67=)
n.850C=
22g.50627172G>TCA412179971ARSAc.459C>A (p.His153Gln)
c.201C>A (p.His67Gln)
n.850C>A
22g.50627173T>ACA412179982ARSAc.458A>T (p.His153Leu)
c.200A>T (p.His67Leu)
n.849A>T
22g.50627173T>CCA412179986ARSAc.458A>G (p.His153Arg)
c.200A>G (p.His67Arg)
n.849A>G
 dbSNP
22g.50627173T>GCA412179984ARSAc.458A>C (p.His153Pro)
c.200A>C (p.His67Pro)
n.849A>C
22g.50627173T=CA2410959468ARSAc.458A= (p.His153=)
c.200A= (p.His67=)
n.849A=
22g.50627174G>ACA412179992ARSAc.457C>T (p.His153Tyr)
c.199C>T (p.His67Tyr)
n.848C>T
 COSMIC
22g.50627174G>CCA412179997ARSAc.457C>G (p.His153Asp)
c.199C>G (p.His67Asp)
n.848C>G
22g.50627174G>TCA412179994ARSAc.457C>A (p.His153Asn)
c.199C>A (p.His67Asn)
n.848C>A
22g.50627175G>ACA515391324ARSAc.456C>T (p.Ser152=)
c.198C>T (p.Ser66=)
n.847C>T
 dbSNP gnomAD v2
22g.50627175G>CCA515391326ARSAc.456C>G (p.Ser152=)
c.198C>G (p.Ser66=)
n.847C>G
22g.50627175G=CA2410959469ARSAc.456C= (p.Ser152=)
c.198C= (p.Ser66=)
n.847C=
22g.50627175G>TCA515391328ARSAc.456C>A (p.Ser152=)
c.198C>A (p.Ser66=)
n.847C>A
22g.50627176G>ACA412180002ARSAc.455C>T (p.Ser152Phe)
c.197C>T (p.Ser66Phe)
n.846C>T
 gnomAD v4
22g.50627176G>CCA412180009ARSAc.455C>G (p.Ser152Cys)
c.197C>G (p.Ser66Cys)
n.846C>G
 ClinVar
22g.50627176G>TCA412180013ARSAc.455C>A (p.Ser152Tyr)
c.197C>A (p.Ser66Tyr)
n.846C>A
22g.50627177A=CA2410959470ARSAc.454T= (p.Ser152=)
c.196T= (p.Ser66=)
n.845T=
22g.50627177A>CCA412180019ARSAc.454T>G (p.Ser152Ala)
c.196T>G (p.Ser66Ala)
n.845T>G
22g.50627177A>GCA412180025ARSAc.454T>C (p.Ser152Pro)
c.196T>C (p.Ser66Pro)
n.845T>C
 ClinVar
22g.50627177A>TCA10325031ARSAc.454T>A (p.Ser152Thr)
c.196T>A (p.Ser66Thr)
n.845T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627178G>ACA515391337ARSAc.453C>T (p.Tyr151=)
c.195C>T (p.Tyr65=)
n.844C>T
22g.50627178G>CCA412180035ARSAc.453C>G (p.Tyr151Ter)
c.195C>G (p.Tyr65Ter)
n.844C>G
 dbSNP
22g.50627178G=CA2410959471ARSAc.453C= (p.Tyr151=)
c.195C= (p.Tyr65=)
n.844C=
22g.50627178G>TCA412180032ARSAc.453C>A (p.Tyr151Ter)
c.195C>A (p.Tyr65Ter)
n.844C>A
22g.50627179T>ACA412180039ARSAc.452A>T (p.Tyr151Phe)
c.194A>T (p.Tyr65Phe)
n.843A>T
22g.50627179T>CCA412180043ARSAc.452A>G (p.Tyr151Cys)
c.194A>G (p.Tyr65Cys)
n.843A>G
22g.50627179T>GCA412180046ARSAc.452A>C (p.Tyr151Ser)
c.194A>C (p.Tyr65Ser)
n.843A>C
22g.50627179T=CA2410959472ARSAc.452A= (p.Tyr151=)
c.194A= (p.Tyr65=)
n.843A=
22g.50627180A>CCA412180051ARSAc.451T>G (p.Tyr151Asp)
c.193T>G (p.Tyr65Asp)
n.842T>G
22g.50627180A>GCA412180055ARSAc.451T>C (p.Tyr151His)
c.193T>C (p.Tyr65His)
n.842T>C
22g.50627180A>TCA412180057ARSAc.451T>A (p.Tyr151Asn)
c.193T>A (p.Tyr65Asn)
n.842T>A
22g.50627180dupCA1139667181ARSAc.451dup (p.Tyr151LeufsTer25)
c.193dup (p.Tyr65LeufsTer25)
n.842dup
 ClinVar dbSNP
22g.50627181C>ACA515391351ARSAc.450G>T (p.Pro150=)
c.192G>T (p.Pro64=)
n.841G>T
22g.50627181C=CA2410959473ARSAc.450G= (p.Pro150=)
c.192G= (p.Pro64=)
n.841G=
22g.50627181C>GCA515391352ARSAc.450G>C (p.Pro150=)
c.192G>C (p.Pro64=)
n.841G>C
22g.50627181C>TCA515391353ARSAc.450G>A (p.Pro150=)
c.192G>A (p.Pro64=)
n.841G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.50627182G>ACA219024ARSAc.449C>T (p.Pro150Leu)
c.191C>T (p.Pro64Leu)
n.840C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627182G>CCA412180061ARSAc.449C>G (p.Pro150Arg)
c.191C>G (p.Pro64Arg)
n.840C>G
 ClinVar dbSNP
22g.50627182G=CA2410959474ARSAc.449C= (p.Pro150=)
c.191C= (p.Pro64=)
n.840C=
22g.50627182G>TCA412180064ARSAc.449C>A (p.Pro150Gln)
c.191C>A (p.Pro64Gln)
n.840C>A
 gnomAD v4
22g.50627182_50627183delinsAACA645612061ARSAc.448_449delinsTT (p.Pro150Leu)
c.190_191delinsTT (p.Pro64Leu)
n.839_840delinsTT
 COSMIC
22g.50627183G>ACA412180070ARSAc.448C>T (p.Pro150Ser)
c.190C>T (p.Pro64Ser)
n.839C>T
 ClinVar dbSNP gnomAD v4
22g.50627183G>CCA412180073ARSAc.448C>G (p.Pro150Ala)
c.190C>G (p.Pro64Ala)
n.839C>G
22g.50627183G=CA2410959475ARSAc.448C= (p.Pro150=)
c.190C= (p.Pro64=)
n.839C=
22g.50627183G>TCA412180076ARSAc.448C>A (p.Pro150Thr)
c.190C>A (p.Pro64Thr)
n.839C>A
22g.50627184G>ACA515391357ARSAc.447C>T (p.Ile149=)
c.189C>T (p.Ile63=)
n.838C>T
22g.50627184G>CCA412180080ARSAc.447C>G (p.Ile149Met)
c.189C>G (p.Ile63Met)
n.838C>G
22g.50627184G>TCA515391359ARSAc.447C>A (p.Ile149=)
c.189C>A (p.Ile63=)
n.838C>A
22g.50627185A=CA2410959476ARSAc.446T= (p.Ile149=)
c.188T= (p.Ile63=)
n.837T=
22g.50627185A>CCA412180085ARSAc.446T>G (p.Ile149Ser)
c.188T>G (p.Ile63Ser)
n.837T>G
22g.50627185A>GCA412180088ARSAc.446T>C (p.Ile149Thr)
c.188T>C (p.Ile63Thr)
n.837T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627185A>TCA412180091ARSAc.446T>A (p.Ile149Asn)
c.188T>A (p.Ile63Asn)
n.837T>A
22g.50627186T>ACA412180096ARSAc.445A>T (p.Ile149Phe)
c.187A>T (p.Ile63Phe)
n.836A>T
22g.50627186T>CCA412180099ARSAc.445A>G (p.Ile149Val)
c.187A>G (p.Ile63Val)
n.836A>G
22g.50627186T>GCA412180101ARSAc.445A>C (p.Ile149Leu)
c.187A>C (p.Ile63Leu)
n.836A>C
22g.50627187G>ACA515391365ARSAc.444C>T (p.Gly148=)
c.186C>T (p.Gly62=)
n.835C>T
22g.50627187G>CCA515391366ARSAc.444C>G (p.Gly148=)
c.186C>G (p.Gly62=)
n.835C>G
22g.50627187G>TCA515391368ARSAc.444C>A (p.Gly148=)
c.186C>A (p.Gly62=)
n.835C>A
22g.50627188C>ACA412180105ARSAc.443G>T (p.Gly148Val)
c.185G>T (p.Gly62Val)
n.834G>T
22g.50627188C>GCA412180109ARSAc.443G>C (p.Gly148Ala)
c.185G>C (p.Gly62Ala)
n.834G>C
22g.50627188C>TCA412180112ARSAc.443G>A (p.Gly148Asp)
c.185G>A (p.Gly62Asp)
n.834G>A
22g.50627189C>ACA412180116ARSAc.442G>T (p.Gly148Cys)
c.184G>T (p.Gly62Cys)
n.833G>T
22g.50627189C=CA2410959477ARSAc.442G= (p.Gly148=)
c.184G= (p.Gly62=)
n.833G=
22g.50627189C>GCA412180122ARSAc.442G>C (p.Gly148Arg)
c.184G>C (p.Gly62Arg)
n.833G>C
 dbSNP gnomAD v2 gnomAD v4
22g.50627189C>TCA412180119ARSAc.442G>A (p.Gly148Ser)
c.184G>A (p.Gly62Ser)
n.833G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50627190T>ACA515391374ARSAc.441A>T (p.Leu147=)
c.183A>T (p.Leu61=)
n.832A>T
22g.50627190T>CCA515391375ARSAc.441A>G (p.Leu147=)
c.183A>G (p.Leu61=)
n.832A>G
 gnomAD v4
22g.50627190T>GCA515391376ARSAc.441A>C (p.Leu147=)
c.183A>C (p.Leu61=)
n.832A>C
22g.50627191A>CCA412180124ARSAc.440T>G (p.Leu147Arg)
c.182T>G (p.Leu61Arg)
n.831T>G
22g.50627191A>GCA412180126ARSAc.440T>C (p.Leu147Pro)
c.182T>C (p.Leu61Pro)
n.831T>C
22g.50627191A>TCA412180127ARSAc.440T>A (p.Leu147Gln)
c.182T>A (p.Leu61Gln)
n.831T>A
22g.50627192G>ACA515391382ARSAc.439C>T (p.Leu147=)
c.181C>T (p.Leu61=)
n.830C>T
22g.50627192G>CCA412180130ARSAc.439C>G (p.Leu147Val)
c.181C>G (p.Leu61Val)
n.830C>G
22g.50627192G>TCA412180132ARSAc.439C>A (p.Leu147Ile)
c.181C>A (p.Leu61Ile)
n.830C>A
22g.50627193A>CCA412180136ARSAc.438T>G (p.Phe146Leu)
c.180T>G (p.Phe60Leu)
n.829T>G
22g.50627193A>GCA515391386ARSAc.438T>C (p.Phe146=)
c.180T>C (p.Phe60=)
n.829T>C
22g.50627193A>TCA412180139ARSAc.438T>A (p.Phe146Leu)
c.180T>A (p.Phe60Leu)
n.829T>A
22g.50627194A=CA2410959478ARSAc.437T= (p.Phe146=)
c.179T= (p.Phe60=)
n.828T=
22g.50627194A>CCA412180145ARSAc.437T>G (p.Phe146Cys)
c.179T>G (p.Phe60Cys)
n.828T>G
22g.50627194A>GCA412180147ARSAc.437T>C (p.Phe146Ser)
c.179T>C (p.Phe60Ser)
n.828T>C
22g.50627194A>TCA412180150ARSAc.437T>A (p.Phe146Tyr)
c.179T>A (p.Phe60Tyr)
n.828T>A
 dbSNP
22g.50627195A=CA2410959479ARSAc.436T= (p.Phe146=)
c.178T= (p.Phe60=)
n.827T=
22g.50627195A>CCA412180155ARSAc.436T>G (p.Phe146Val)
c.178T>G (p.Phe60Val)
n.827T>G
22g.50627195A>GCA10325032ARSAc.436T>C (p.Phe146Leu)
c.178T>C (p.Phe60Leu)
n.827T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627195A>TCA412180161ARSAc.436T>A (p.Phe146Ile)
c.178T>A (p.Phe60Ile)
n.827T>A
22g.50627196T>ACA515391390ARSAc.435A>T (p.Arg145=)
c.177A>T (p.Arg59=)
n.826A>T
22g.50627196T>CCA515391391ARSAc.435A>G (p.Arg145=)
c.177A>G (p.Arg59=)
n.826A>G
22g.50627196T>GCA515391392ARSAc.435A>C (p.Arg145=)
c.177A>C (p.Arg59=)
n.826A>C
22g.50627197C>ACA412180165ARSAc.434G>T (p.Arg145Leu)
c.176G>T (p.Arg59Leu)
n.825G>T
 dbSNP gnomAD v2 gnomAD v4
22g.50627197C=CA2410959480ARSAc.434G= (p.Arg145=)
c.176G= (p.Arg59=)
n.825G=
22g.50627197C>GCA412180172ARSAc.434G>C (p.Arg145Pro)
c.176G>C (p.Arg59Pro)
n.825G>C
 gnomAD v4
22g.50627197C>TCA10325033ARSAc.434G>A (p.Arg145Gln)
c.176G>A (p.Arg59Gln)
n.825G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627198G>ACA412180174ARSAc.433C>T (p.Arg145Ter)
c.175C>T (p.Arg59Ter)
n.824C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50627198G>CCA219022ARSAc.433C>G (p.Arg145Gly)
c.175C>G (p.Arg59Gly)
n.824C>G
 ClinVar dbSNP gnomAD v4
22g.50627198G=CA2410959481ARSAc.433C= (p.Arg145=)
c.175C= (p.Arg59=)
n.824C=
22g.50627198G>TCA515391398ARSAc.433C>A (p.Arg145=)
c.175C>A (p.Arg59=)
n.824C>A
22g.50627199A>CCA412180177ARSAc.432T>G (p.His144Gln)
c.174T>G (p.His58Gln)
n.823T>G
22g.50627199A>GCA515391401ARSAc.432T>C (p.His144=)
c.174T>C (p.His58=)
n.823T>C
22g.50627199A>TCA412180179ARSAc.432T>A (p.His144Gln)
c.174T>A (p.His58Gln)
n.823T>A
22g.50627200T>ACA412180181ARSAc.431A>T (p.His144Leu)
c.173A>T (p.His58Leu)
n.822A>T
22g.50627200T>CCA412180182ARSAc.431A>G (p.His144Arg)
c.173A>G (p.His58Arg)
n.822A>G
 dbSNP gnomAD v3 gnomAD v4
22g.50627200T>GCA412180184ARSAc.431A>C (p.His144Pro)
c.173A>C (p.His58Pro)
n.822A>C
 dbSNP gnomAD v4
22g.50627200T=CA2410959482ARSAc.431A= (p.His144=)
c.173A= (p.His58=)
n.822A=
22g.50627201G>ACA412180186ARSAc.430C>T (p.His144Tyr)
c.172C>T (p.His58Tyr)
n.821C>T
 gnomAD v4
22g.50627201G>CCA412180188ARSAc.430C>G (p.His144Asp)
c.172C>G (p.His58Asp)
n.821C>G
22g.50627201G>TCA412180190ARSAc.430C>A (p.His144Asn)
c.172C>A (p.His58Asn)
n.821C>A
22g.50627202G>ACA10325034ARSAc.429C>T (p.Phe143=)
c.171C>T (p.Phe57=)
n.820C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627202G>CCA412180195ARSAc.429C>G (p.Phe143Leu)
c.171C>G (p.Phe57Leu)
n.820C>G
22g.50627202G=CA2410959483ARSAc.429C= (p.Phe143=)
c.171C= (p.Phe57=)
n.820C=
22g.50627202G>TCA412180192ARSAc.429C>A (p.Phe143Leu)
c.171C>A (p.Phe57Leu)
n.820C>A
22g.50627203A=CA2410959484ARSAc.428T= (p.Phe143=)
c.170T= (p.Phe57=)
n.819T=
22g.50627203A>CCA412180202ARSAc.428T>G (p.Phe143Cys)
c.170T>G (p.Phe57Cys)
n.819T>G
 dbSNP gnomAD v3 gnomAD v4
22g.50627203A>GCA412180212ARSAc.428T>C (p.Phe143Ser)
c.170T>C (p.Phe57Ser)
n.819T>C
22g.50627203A>TCA412180205ARSAc.428T>A (p.Phe143Tyr)
c.170T>A (p.Phe57Tyr)
n.819T>A
22g.50627204A>CCA412180217ARSAc.427T>G (p.Phe143Val)
c.169T>G (p.Phe57Val)
n.818T>G
22g.50627204A>GCA412180220ARSAc.427T>C (p.Phe143Leu)
c.169T>C (p.Phe57Leu)
n.818T>C
 ClinVar
22g.50627204A>TCA412180225ARSAc.427T>A (p.Phe143Ile)
c.169T>A (p.Phe57Ile)
n.818T>A
22g.50627205G>ACA515391409ARSAc.426C>T (p.Gly142=)
c.168C>T (p.Gly56=)
n.817C>T
22g.50627205G>CCA515391410ARSAc.426C>G (p.Gly142=)
c.168C>G (p.Gly56=)
n.817C>G
22g.50627205G>TCA515391408ARSAc.426C>A (p.Gly142=)
c.168C>A (p.Gly56=)
n.817C>A
22g.50627206C>ACA412180229ARSAc.425G>T (p.Gly142Val)
c.167G>T (p.Gly56Val)
n.816G>T
22g.50627206C>GCA412180235ARSAc.425G>C (p.Gly142Ala)
c.167G>C (p.Gly56Ala)
n.816G>C
22g.50627206C>TCA412180240ARSAc.425G>A (p.Gly142Asp)
c.167G>A (p.Gly56Asp)
n.816G>A
22g.50627209_50627241delCA2573158321ARSAc.393_425del (p.Pro132_Gly142del)
c.135_167del (p.Pro46_Gly56del)
n.784_816del
 ClinVar dbSNP
22g.50627207C>ACA412180247ARSAc.424G>T (p.Gly142Cys)
c.166G>T (p.Gly56Cys)
n.815G>T
22g.50627207C>GCA412180250ARSAc.424G>C (p.Gly142Arg)
c.166G>C (p.Gly56Arg)
n.815G>C
22g.50627207C>TCA412180257ARSAc.424G>A (p.Gly142Ser)
c.166G>A (p.Gly56Ser)
n.815G>A
 ClinVar dbSNP
22g.50627208C>ACA412180261ARSAc.423G>T (p.Gln141His)
c.165G>T (p.Gln55His)
n.814G>T
22g.50627208C>GCA412180265ARSAc.423G>C (p.Gln141His)
c.165G>C (p.Gln55His)
n.814G>C
22g.50627208C>TCA515391415ARSAc.423G>A (p.Gln141=)
c.165G>A (p.Gln55=)
n.814G>A
 gnomAD v4 COSMIC
22g.50627209delCA2580099989ARSAc.422del (p.Gln141ArgfsTer7)
c.164del (p.Gln55ArgfsTer7)
n.813del
 ClinVar
22g.50627209T>ACA412180271ARSAc.422A>T (p.Gln141Leu)
c.164A>T (p.Gln55Leu)
n.813A>T
22g.50627209T>CCA412180276ARSAc.422A>G (p.Gln141Arg)
c.164A>G (p.Gln55Arg)
n.813A>G
 dbSNP gnomAD v3 gnomAD v4
22g.50627209T>GCA412180273ARSAc.422A>C (p.Gln141Pro)
c.164A>C (p.Gln55Pro)
n.813A>C
22g.50627209T=CA2410959485ARSAc.422A= (p.Gln141=)
c.164A= (p.Gln55=)
n.813A=
22g.50627210G>ACA16042044ARSAc.421C>T (p.Gln141Ter)
c.163C>T (p.Gln55Ter)
n.812C>T
 ClinVar dbSNP
22g.50627210G>CCA412180284ARSAc.421C>G (p.Gln141Glu)
c.163C>G (p.Gln55Glu)
n.812C>G
22g.50627210G=CA2410959486ARSAc.421C= (p.Gln141=)
c.163C= (p.Gln55=)
n.812C=
22g.50627210G>TCA412180289ARSAc.421C>A (p.Gln141Lys)
c.163C>A (p.Gln55Lys)
n.812C>A
22g.50627211A>CCA412180295ARSAc.420T>G (p.His140Gln)
c.162T>G (p.His54Gln)
n.811T>G
22g.50627211A>GCA515391416ARSAc.420T>C (p.His140=)
c.162T>C (p.His54=)
n.811T>C
22g.50627211A>TCA412180306ARSAc.420T>A (p.His140Gln)
c.162T>A (p.His54Gln)
n.811T>A
22g.50627211_50627212insGCA645612062ARSAc.419_420insC (p.Gln141SerfsTer?)
c.161_162insC (p.Gln55SerfsTer?)
n.810_811insC
 COSMIC
22g.50627212T>ACA412180308ARSAc.419A>T (p.His140Leu)
c.161A>T (p.His54Leu)
n.810A>T
 ClinVar dbSNP gnomAD v4
22g.50627212T>CCA412180312ARSAc.419A>G (p.His140Arg)
c.161A>G (p.His54Arg)
n.810A>G
22g.50627212T>GCA412180316ARSAc.419A>C (p.His140Pro)
c.161A>C (p.His54Pro)
n.810A>C
22g.50627212T=CA1139532175ARSAc.419A= (p.His140=)
c.161A= (p.His54=)
n.810A=
22g.50627212_50627213delinsTGCA2410959487ARSAc.418_419delinsCA (p.His140=)
c.160_161delinsCA (p.His54=)
n.809_810delinsCA
22g.50627213G>ACA10325037ARSAc.418C>T (p.His140Tyr)
c.160C>T (p.His54Tyr)
n.809C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627213G>CCA219020ARSAc.418C>G (p.His140Asp)
c.160C>G (p.His54Asp)
n.809C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627213G=CA2410959488ARSAc.418C= (p.His140=)
c.160C= (p.His54=)
n.809C=
22g.50627213G>TCA412180330ARSAc.418C>A (p.His140Asn)
c.160C>A (p.His54Asn)
n.809C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627219dupCA10325035ARSAc.418dup (p.His140ProfsTer?)
c.160dup (p.His54ProfsTer?)
n.809dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.50627218_50627219dupCA2819314707ARSAc.417_418dup (p.His140ProfsTer9)
c.159_160dup (p.His54ProfsTer9)
n.808_809dup
22g.50627219delCA10325036ARSAc.418del (p.His140IlefsTer8)
c.160del (p.His54IlefsTer8)
n.809del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.50627217_50627219delCA2695231030ARSAc.416_418del (p.Pro139del)
c.158_160del (p.Pro53del)
n.807_809del
22g.50627214G>ACA10325038ARSAc.417C>T (p.Pro139=)
c.159C>T (p.Pro53=)
n.808C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627214G>CCA10325039ARSAc.417C>G (p.Pro139=)
c.159C>G (p.Pro53=)
n.808C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627214G=CA2410959489ARSAc.417C= (p.Pro139=)
c.159C= (p.Pro53=)
n.808C=
22g.50627214G>TCA515391419ARSAc.417C>A (p.Pro139=)
c.159C>A (p.Pro53=)
n.808C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627215G>ACA412180359ARSAc.416C>T (p.Pro139Leu)
c.158C>T (p.Pro53Leu)
n.807C>T
 dbSNP gnomAD v2 gnomAD v4
22g.50627215G>CCA412180363ARSAc.416C>G (p.Pro139Arg)
c.158C>G (p.Pro53Arg)
n.807C>G
 dbSNP gnomAD v3 gnomAD v4
22g.50627215G=CA2410959490ARSAc.416C= (p.Pro139=)
c.158C= (p.Pro53=)
n.807C=
22g.50627215G>TCA412180373ARSAc.416C>A (p.Pro139His)
c.158C>A (p.Pro53His)
n.807C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627216G>ACA412180374ARSAc.415C>T (p.Pro139Ser)
c.157C>T (p.Pro53Ser)
n.806C>T
 gnomAD v4 COSMIC
22g.50627216G>CCA412180375ARSAc.415C>G (p.Pro139Ala)
c.157C>G (p.Pro53Ala)
n.806C>G
22g.50627216G>TCA412180377ARSAc.415C>A (p.Pro139Thr)
c.157C>A (p.Pro53Thr)
n.806C>A
22g.50627217G>ACA515391421ARSAc.414C>T (p.Pro138=)
c.156C>T (p.Pro52=)
n.805C>T
 ClinVar dbSNP COSMIC
22g.50627217G>CCA325531575ARSAc.414C>G (p.Pro138=)
c.156C>G (p.Pro52=)
n.805C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627217G=CA2410959491ARSAc.414C= (p.Pro138=)
c.156C= (p.Pro52=)
n.805C=
22g.50627217G>TCA515391424ARSAc.414C>A (p.Pro138=)
c.156C>A (p.Pro52=)
n.805C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627218G>ACA115977ARSAc.413C>T (p.Pro138Leu)
c.155C>T (p.Pro52Leu)
n.804C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627218G>CCA412180391ARSAc.413C>G (p.Pro138Arg)
c.155C>G (p.Pro52Arg)
n.804C>G
 ClinVar dbSNP
22g.50627218G=CA2410959492ARSAc.413C= (p.Pro138=)
c.155C= (p.Pro52=)
n.804C=
22g.50627218G>TCA412180394ARSAc.413C>A (p.Pro138His)
c.155C>A (p.Pro52His)
n.804C>A
 ClinVar dbSNP
22g.50627218_50627219insCCA2657593847ARSAc.412_413insG (p.Pro138ArgfsTer?)
c.154_155insG (p.Pro52ArgfsTer?)
n.803_804insG
 gnomAD v4
22g.50627219G>ACA219018ARSAc.412C>T (p.Pro138Ser)
c.154C>T (p.Pro52Ser)
n.803C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627219G>CCA325531576ARSAc.412C>G (p.Pro138Ala)
c.154C>G (p.Pro52Ala)
n.803C>G
 ClinVar dbSNP
22g.50627219G=CA2410959493ARSAc.412C= (p.Pro138=)
c.154C= (p.Pro52=)
n.803C=
22g.50627219G>TCA10325040ARSAc.412C>A (p.Pro138Thr)
c.154C>A (p.Pro52Thr)
n.803C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627220C>ACA515391431ARSAc.411G>T (p.Leu137=)
c.153G>T (p.Leu51=)
n.802G>T
22g.50627220C>GCA515391427ARSAc.411G>C (p.Leu137=)
c.153G>C (p.Leu51=)
n.802G>C
22g.50627220C>TCA515391429ARSAc.411G>A (p.Leu137=)
c.153G>A (p.Leu51=)
n.802G>A
22g.50627221A=CA2410959494ARSAc.410T= (p.Leu137=)
c.152T= (p.Leu51=)
n.801T=
22g.50627221A>CCA412180410ARSAc.410T>G (p.Leu137Arg)
c.152T>G (p.Leu51Arg)
n.801T>G
22g.50627221A>GCA116003ARSAc.410T>C (p.Leu137Pro)
c.152T>C (p.Leu51Pro)
n.801T>C
 ClinVar dbSNP
22g.50627221A>TCA412180423ARSAc.410T>A (p.Leu137Gln)
c.152T>A (p.Leu51Gln)
n.801T>A
22g.50627221_50627233delCA913088709ARSAc.398_410del (p.Glu133GlyfsTer11)
c.140_152del (p.Glu47GlyfsTer11)
n.789_801del
22g.50627221_50627233delinsAGGAAGGCCCCCTCA2410959495ARSAc.398_410delinsAGGGGGCCTTCCT (p.Glu133=)
c.140_152delinsAGGGGGCCTTCCT (p.Glu47=)
n.789_801delinsAGGGGGCCTTCCT
22g.50627222G>ACA515391433ARSAc.409C>T (p.Leu137=)
c.151C>T (p.Leu51=)
n.800C>T
 ClinVar dbSNP
22g.50627222G>CCA412180427ARSAc.409C>G (p.Leu137Val)
c.151C>G (p.Leu51Val)
n.800C>G
22g.50627222G>TCA412180433ARSAc.409C>A (p.Leu137Met)
c.151C>A (p.Leu51Met)
n.800C>A
22g.50627222_50627233delCA658824688ARSAc.398_409del (p.Glu133_Leu137delinsVal)
c.140_151del (p.Glu47_Leu51delinsVal)
n.789_800del
 ClinVar dbSNP
22g.50627223G>ACA515391434ARSAc.408C>T (p.Phe136=)
c.150C>T (p.Phe50=)
n.799C>T
22g.50627223G>CCA412180438ARSAc.408C>G (p.Phe136Leu)
c.150C>G (p.Phe50Leu)
n.799C>G
22g.50627223G>TCA412180441ARSAc.408C>A (p.Phe136Leu)
c.150C>A (p.Phe50Leu)
n.799C>A
22g.50627224A=CA2410959496ARSAc.407T= (p.Phe136=)
c.149T= (p.Phe50=)
n.798T=
22g.50627224A>CCA412180442ARSAc.407T>G (p.Phe136Cys)
c.149T>G (p.Phe50Cys)
n.798T>G
22g.50627224A>GCA412180443ARSAc.407T>C (p.Phe136Ser)
c.149T>C (p.Phe50Ser)
n.798T>C
 dbSNP
22g.50627224A>TCA412180444ARSAc.407T>A (p.Phe136Tyr)
c.149T>A (p.Phe50Tyr)
n.798T>A

Number of alleles fetched