Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.73978053_73978088delinsGCGCTGGCTGTAGCGCGCACTGGCCCCTGACTTTCTCA1982686304UCP2c.135_170delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly45=)
c.54_89delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly18=)
c.138_173delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly46=)
11g.73978055_73978089delCA600245085UCP2c.135_169del (p.Glu46ProfsTer16)
c.54_88del (p.Glu19ProfsTer16)
c.138_172del (p.Glu47ProfsTer16)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978072C>ACA381811956UCP2c.151G>T (p.Val51Leu)
c.70G>T (p.Val24Leu)
c.154G>T (p.Val52Leu)
11g.73978072C=CA1982686319UCP2c.151G= (p.Val51=)
c.70G= (p.Val24=)
c.154G= (p.Val52=)
11g.73978072C>GCA381811957UCP2c.151G>C (p.Val51Leu)
c.70G>C (p.Val24Leu)
c.154G>C (p.Val52Leu)
11g.73978072C>TCA224505781UCP2c.151G>A (p.Val51Met)
c.70G>A (p.Val24Met)
c.154G>A (p.Val52Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978073T>ACA475655827UCP2c.150A>T (p.Pro50=)
c.69A>T (p.Pro23=)
c.153A>T (p.Pro51=)
11g.73978073T>CCA475655826UCP2c.150A>G (p.Pro50=)
c.69A>G (p.Pro23=)
c.153A>G (p.Pro51=)
11g.73978073T>GCA475655825UCP2c.150A>C (p.Pro50=)
c.69A>C (p.Pro23=)
c.153A>C (p.Pro51=)
11g.73978074G>ACA6181229UCP2c.149C>T (p.Pro50Leu)
c.68C>T (p.Pro23Leu)
c.152C>T (p.Pro51Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978074G>CCA381811959UCP2c.149C>G (p.Pro50Arg)
c.68C>G (p.Pro23Arg)
c.152C>G (p.Pro51Arg)
11g.73978074G=CA1982686320UCP2c.149C= (p.Pro50=)
c.68C= (p.Pro23=)
c.152C= (p.Pro51=)
11g.73978074G>TCA381811958UCP2c.149C>A (p.Pro50Gln)
c.68C>A (p.Pro23Gln)
c.152C>A (p.Pro51Gln)
11g.73978075G>ACA381811960UCP2c.148C>T (p.Pro50Ser)
c.67C>T (p.Pro23Ser)
c.151C>T (p.Pro51Ser)
11g.73978075G>CCA381811961UCP2c.148C>G (p.Pro50Ala)
c.67C>G (p.Pro23Ala)
c.151C>G (p.Pro51Ala)
11g.73978075G>TCA381811962UCP2c.148C>A (p.Pro50Thr)
c.67C>A (p.Pro23Thr)
c.151C>A (p.Pro51Thr)
 COSMIC
11g.73978076C>ACA475655828UCP2c.147G>T (p.Gly49=)
c.66G>T (p.Gly22=)
c.150G>T (p.Gly50=)
11g.73978076C=CA1982686321UCP2c.147G= (p.Gly49=)
c.66G= (p.Gly22=)
c.150G= (p.Gly50=)
11g.73978076C>GCA475655829UCP2c.147G>C (p.Gly49=)
c.66G>C (p.Gly22=)
c.150G>C (p.Gly50=)
 dbSNP
11g.73978076C>TCA475655830UCP2c.147G>A (p.Gly49=)
c.66G>A (p.Gly22=)
c.150G>A (p.Gly50=)
 gnomAD v4
11g.73978077C>ACA381811963UCP2c.146G>T (p.Gly49Val)
c.65G>T (p.Gly22Val)
c.149G>T (p.Gly50Val)
11g.73978077C=CA1982686322UCP2c.146G= (p.Gly49=)
c.65G= (p.Gly22=)
c.149G= (p.Gly50=)
11g.73978077C>GCA381811964UCP2c.146G>C (p.Gly49Ala)
c.65G>C (p.Gly22Ala)
c.149G>C (p.Gly50Ala)
11g.73978077C>TCA6181230UCP2c.146G>A (p.Gly49Glu)
c.65G>A (p.Gly22Glu)
c.149G>A (p.Gly50Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978078C>ACA381811965UCP2c.145G>T (p.Gly49Trp)
c.64G>T (p.Gly22Trp)
c.148G>T (p.Gly50Trp)
11g.73978078C>GCA381811966UCP2c.145G>C (p.Gly49Arg)
c.64G>C (p.Gly22Arg)
c.148G>C (p.Gly50Arg)
11g.73978078C>TCA381811967UCP2c.145G>A (p.Gly49Arg)
c.64G>A (p.Gly22Arg)
c.148G>A (p.Gly50Arg)
11g.73978078_73978080delinsCCTCA1982686324UCP2c.143_145delinsAGG (p.Gln48=)
c.62_64delinsAGG (p.Gln21=)
c.146_148delinsAGG (p.Gln49=)
11g.73978078_73978082delinsCCTGACA1982686323UCP2c.141_145delinsTCAGG (p.Ser47=)
c.60_64delinsTCAGG (p.Ser20=)
c.144_148delinsTCAGG (p.Ser48=)
11g.73978079C>ACA381811968UCP2c.144G>T (p.Gln48His)
c.63G>T (p.Gln21His)
c.147G>T (p.Gln49His)
11g.73978079C=CA1982686325UCP2c.144G= (p.Gln48=)
c.63G= (p.Gln21=)
c.147G= (p.Gln49=)
11g.73978079C>GCA381811969UCP2c.144G>C (p.Gln48His)
c.63G>C (p.Gln21His)
c.147G>C (p.Gln49His)
11g.73978079C>TCA224505800UCP2c.144G>A (p.Gln48=)
c.63G>A (p.Gln21=)
c.147G>A (p.Gln49=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978079_73978080delCA6181231UCP2c.143_144del (p.Gln48ArgfsTer25)
c.62_63del (p.Gln21ArgfsTer25)
c.146_147del (p.Gln49ArgfsTer25)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978081_73978084delCA939553445UCP2c.141_144del (p.Ser47ArgfsTer15)
c.60_63del (p.Ser20ArgfsTer15)
c.144_147del (p.Ser48ArgfsTer15)
 dbSNP gnomAD v3 gnomAD v4
11g.73978080T>ACA381811972UCP2c.143A>T (p.Gln48Leu)
c.62A>T (p.Gln21Leu)
c.146A>T (p.Gln49Leu)
11g.73978080T>CCA381811973UCP2c.143A>G (p.Gln48Arg)
c.62A>G (p.Gln21Arg)
c.146A>G (p.Gln49Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.73978080T>GCA381811971UCP2c.143A>C (p.Gln48Pro)
c.62A>C (p.Gln21Pro)
c.146A>C (p.Gln49Pro)
 dbSNP
11g.73978080T=CA1982686326UCP2c.143A= (p.Gln48=)
c.62A= (p.Gln21=)
c.146A= (p.Gln49=)
11g.73978080_73978081delCA381811970UCP2c.142_143del (p.Gln48GlyfsTer25)
c.61_62del (p.Gln21GlyfsTer25)
c.145_146del (p.Gln49GlyfsTer25)
11g.73978081G>ACA381811974UCP2c.142C>T (p.Gln48Ter)
c.61C>T (p.Gln21Ter)
c.145C>T (p.Gln49Ter)
11g.73978081G>CCA381811975UCP2c.142C>G (p.Gln48Glu)
c.61C>G (p.Gln21Glu)
c.145C>G (p.Gln49Glu)
11g.73978081G>TCA381811976UCP2c.142C>A (p.Gln48Lys)
c.61C>A (p.Gln21Lys)
c.145C>A (p.Gln49Lys)
11g.73978082A=CA1982686327UCP2c.141T= (p.Ser47=)
c.60T= (p.Ser20=)
c.144T= (p.Ser48=)
11g.73978082A>CCA381811977UCP2c.141T>G (p.Ser47Arg)
c.60T>G (p.Ser20Arg)
c.144T>G (p.Ser48Arg)
 gnomAD v4
11g.73978082A>GCA475655831UCP2c.141T>C (p.Ser47=)
c.60T>C (p.Ser20=)
c.144T>C (p.Ser48=)
11g.73978082A>TCA381811978UCP2c.141T>A (p.Ser47Arg)
c.60T>A (p.Ser20Arg)
c.144T>A (p.Ser48Arg)
 dbSNP gnomAD v2
11g.73978083C>ACA381811979UCP2c.140G>T (p.Ser47Ile)
c.59G>T (p.Ser20Ile)
c.143G>T (p.Ser48Ile)
11g.73978083C=CA1982686328UCP2c.140G= (p.Ser47=)
c.59G= (p.Ser20=)
c.143G= (p.Ser48=)
11g.73978083C>GCA381811980UCP2c.140G>C (p.Ser47Thr)
c.59G>C (p.Ser20Thr)
c.143G>C (p.Ser48Thr)
11g.73978083C>TCA6181232UCP2c.140G>A (p.Ser47Asn)
c.59G>A (p.Ser20Asn)
c.143G>A (p.Ser48Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978084T>ACA381811981UCP2c.139A>T (p.Ser47Cys)
c.58A>T (p.Ser20Cys)
c.142A>T (p.Ser48Cys)
11g.73978084T>CCA381811982UCP2c.139A>G (p.Ser47Gly)
c.58A>G (p.Ser20Gly)
c.142A>G (p.Ser48Gly)
 dbSNP gnomAD v4
11g.73978084T>GCA381811983UCP2c.139A>C (p.Ser47Arg)
c.58A>C (p.Ser20Arg)
c.142A>C (p.Ser48Arg)
11g.73978085T>ACA381811984UCP2c.138A>T (p.Glu46Asp)
c.57A>T (p.Glu19Asp)
c.141A>T (p.Glu47Asp)
11g.73978085T>CCA475655832UCP2c.138A>G (p.Glu46=)
c.57A>G (p.Glu19=)
c.141A>G (p.Glu47=)
11g.73978085T>GCA381811985UCP2c.138A>C (p.Glu46Asp)
c.57A>C (p.Glu19Asp)
c.141A>C (p.Glu47Asp)
11g.73978086T>ACA381811987UCP2c.137A>T (p.Glu46Val)
c.56A>T (p.Glu19Val)
c.140A>T (p.Glu47Val)
11g.73978086T>CCA224505803UCP2c.137A>G (p.Glu46Gly)
c.56A>G (p.Glu19Gly)
c.140A>G (p.Glu47Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.73978086T>GCA381811986UCP2c.137A>C (p.Glu46Ala)
c.56A>C (p.Glu19Ala)
c.140A>C (p.Glu47Ala)
11g.73978086T=CA1982686329UCP2c.137A= (p.Glu46=)
c.56A= (p.Glu19=)
c.140A= (p.Glu47=)
11g.73978087C>ACA381811988UCP2c.136G>T (p.Glu46Ter)
c.55G>T (p.Glu19Ter)
c.139G>T (p.Glu47Ter)
11g.73978087C=CA1982686330UCP2c.136G= (p.Glu46=)
c.55G= (p.Glu19=)
c.139G= (p.Glu47=)
11g.73978087C>GCA6181233UCP2c.136G>C (p.Glu46Gln)
c.55G>C (p.Glu19Gln)
c.139G>C (p.Glu47Gln)
 dbSNP ExAC
11g.73978087C>TCA381811989UCP2c.136G>A (p.Glu46Lys)
c.55G>A (p.Glu19Lys)
c.139G>A (p.Glu47Lys)
 dbSNP gnomAD v4
11g.73978088T>ACA475655835UCP2c.135A>T (p.Gly45=)
c.54A>T (p.Gly18=)
c.138A>T (p.Gly46=)
 dbSNP gnomAD v2 gnomAD v4
11g.73978088T>CCA475655834UCP2c.135A>G (p.Gly45=)
c.54A>G (p.Gly18=)
c.138A>G (p.Gly46=)
11g.73978088T>GCA475655833UCP2c.135A>C (p.Gly45=)
c.54A>C (p.Gly18=)
c.138A>C (p.Gly46=)
11g.73978088T=CA1982686331UCP2c.135A= (p.Gly45=)
c.54A= (p.Gly18=)
c.138A= (p.Gly46=)
11g.73978089C>ACA381811990UCP2c.134G>T (p.Gly45Val)
c.53G>T (p.Gly18Val)
c.137G>T (p.Gly46Val)
11g.73978089C>GCA381811991UCP2c.134G>C (p.Gly45Ala)
c.53G>C (p.Gly18Ala)
c.137G>C (p.Gly46Ala)
11g.73978089C>TCA381811992UCP2c.134G>A (p.Gly45Glu)
c.53G>A (p.Gly18Glu)
c.137G>A (p.Gly46Glu)
 gnomAD v4
11g.73978090C>ACA381811993UCP2c.133G>T (p.Gly45Ter)
c.52G>T (p.Gly18Ter)
c.136G>T (p.Gly46Ter)
11g.73978090C>GCA381811994UCP2c.133G>C (p.Gly45Arg)
c.52G>C (p.Gly18Arg)
c.136G>C (p.Gly46Arg)
11g.73978090C>TCA381811995UCP2c.133G>A (p.Gly45Arg)
c.52G>A (p.Gly18Arg)
c.136G>A (p.Gly46Arg)
 gnomAD v4
11g.73978091T>ACA381811996UCP2c.132A>T (p.Gln44His)
c.51A>T (p.Gln17His)
c.135A>T (p.Gln45His)
11g.73978091T>CCA475655841UCP2c.132A>G (p.Gln44=)
c.51A>G (p.Gln17=)
c.135A>G (p.Gln45=)
11g.73978091T>GCA381811997UCP2c.132A>C (p.Gln44His)
c.51A>C (p.Gln17His)
c.135A>C (p.Gln45His)
11g.73978092T>ACA381811998UCP2c.131A>T (p.Gln44Leu)
c.50A>T (p.Gln17Leu)
c.134A>T (p.Gln45Leu)
11g.73978092T>CCA381811999UCP2c.131A>G (p.Gln44Arg)
c.50A>G (p.Gln17Arg)
c.134A>G (p.Gln45Arg)
11g.73978092T>GCA381812000UCP2c.131A>C (p.Gln44Pro)
c.50A>C (p.Gln17Pro)
c.134A>C (p.Gln45Pro)
11g.73978093G>ACA6181234UCP2c.130C>T (p.Gln44Ter)
c.49C>T (p.Gln17Ter)
c.133C>T (p.Gln45Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978093G>CCA381812002UCP2c.130C>G (p.Gln44Glu)
c.49C>G (p.Gln17Glu)
c.133C>G (p.Gln45Glu)
 gnomAD v4
11g.73978093G=CA1982686332UCP2c.130C= (p.Gln44=)
c.49C= (p.Gln17=)
c.133C= (p.Gln45=)
11g.73978093G>TCA381812001UCP2c.130C>A (p.Gln44Lys)
c.49C>A (p.Gln17Lys)
c.133C>A (p.Gln45Lys)
11g.73978094G>ACA6181235UCP2c.129C>T (p.Ile43=)
c.48C>T (p.Ile16=)
c.132C>T (p.Ile44=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978094G>CCA381812003UCP2c.129C>G (p.Ile43Met)
c.48C>G (p.Ile16Met)
c.132C>G (p.Ile44Met)
 dbSNP
11g.73978094G=CA1982686333UCP2c.129C= (p.Ile43=)
c.48C= (p.Ile16=)
c.132C= (p.Ile44=)
11g.73978094G>TCA475655842UCP2c.129C>A (p.Ile43=)
c.48C>A (p.Ile16=)
c.132C>A (p.Ile44=)
11g.73978095A>CCA381812004UCP2c.128T>G (p.Ile43Ser)
c.47T>G (p.Ile16Ser)
c.131T>G (p.Ile44Ser)
11g.73978095A>GCA381812006UCP2c.128T>C (p.Ile43Thr)
c.47T>C (p.Ile16Thr)
c.131T>C (p.Ile44Thr)
11g.73978095A>TCA381812005UCP2c.128T>A (p.Ile43Asn)
c.47T>A (p.Ile16Asn)
c.131T>A (p.Ile44Asn)
11g.73978096T>ACA381812007UCP2c.127A>T (p.Ile43Phe)
c.46A>T (p.Ile16Phe)
c.130A>T (p.Ile44Phe)
11g.73978096T>CCA381812008UCP2c.127A>G (p.Ile43Val)
c.46A>G (p.Ile16Val)
c.130A>G (p.Ile44Val)
 gnomAD v4
11g.73978096T>GCA381812009UCP2c.127A>C (p.Ile43Leu)
c.46A>C (p.Ile16Leu)
c.130A>C (p.Ile44Leu)
 gnomAD v4
11g.73978097C>ACA381812010UCP2c.127-1G>T (n.127-1G>T)
c.45G>T (p.Gln15His)
c.129G>T (p.Gln43His)
11g.73978097C>GCA381812011UCP2c.127-1G>C (n.127-1G>C)
c.45G>C (p.Gln15His)
c.129G>C (p.Gln43His)
11g.73978097C>TCA381812012UCP2c.127-1G>A (n.127-1G>A)
c.45G>A (p.Gln15=)
c.129G>A (p.Gln43=)
11g.73978098T>ACA381812013UCP2c.127-2A>T (n.127-2A>T)
c.44A>T (p.Gln15Leu)
c.128A>T (p.Gln43Leu)
11g.73978098T>CCA381812014UCP2c.127-2A>G (n.127-2A>G)
c.44A>G (p.Gln15Arg)
c.128A>G (p.Gln43Arg)
11g.73978098T>GCA381812015UCP2c.127-2A>C (n.127-2A>C)
c.44A>C (p.Gln15Pro)
c.128A>C (p.Gln43Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.73978098T=CA1982686334UCP2c.127-2A= (n.127-2A=)
c.44A= (p.Gln15=)
c.128A= (p.Gln43=)
11g.73978099G>ACA381812016UCP2c.127-3C>T (n.127-3C>T)
c.43C>T (p.Gln15Ter)
c.127C>T (p.Gln43Ter)
 dbSNP gnomAD v4
11g.73978099G>CCA6181236UCP2c.127-3C>G (n.127-3C>G)
c.43C>G (p.Gln15Glu)
c.127C>G (p.Gln43Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978099G=CA1982686335UCP2c.127-3C= (n.127-3C=)
c.43C= (p.Gln15=)
c.127C= (p.Gln43=)
11g.73978099G>TCA381812017UCP2c.127-3C>A (n.127-3C>A)
c.43C>A (p.Gln15Lys)
c.127C>A (p.Gln43Lys)
 COSMIC
11g.73978100C>ACA381812018UCP2c.127-4G>T (n.127-4G>T)
c.42G>T (p.Leu14Phe)
c.126G>T (p.Leu42Phe)
11g.73978100C>GCA381812019UCP2c.127-4G>C (n.127-4G>C)
c.42G>C (p.Leu14Phe)
c.126G>C (p.Leu42Phe)
11g.73978101A>CCA381812020UCP2c.127-5T>G (n.127-5T>G)
c.41T>G (p.Leu14Trp)
c.125T>G (p.Leu42Trp)
11g.73978101A>GCA381812021UCP2c.127-5T>C (n.127-5T>C)
c.41T>C (p.Leu14Ser)
c.125T>C (p.Leu42Ser)
11g.73978101A>TCA381812022UCP2c.127-5T>A (n.127-5T>A)
c.41T>A (p.Leu14Ter)
c.125T>A (p.Leu42Ter)
11g.73978102A>CCA381812023UCP2c.127-6T>G (n.127-6T>G)
c.40T>G (p.Leu14Val)
c.124T>G (p.Leu42Val)
11g.73978102A>TCA381812024UCP2c.127-6T>A (n.127-6T>A)
c.40T>A (p.Leu14Met)
c.124T>A (p.Leu42Met)
11g.73978103G>ACA1982686337UCP2c.127-7C>T (n.127-7C>T)
c.39C>T (p.Ala13=)
c.123C>T (p.Ala41=)
 dbSNP
11g.73978103G>CCA600245086UCP2c.127-7C>G (n.127-7C>G)
c.39C>G (p.Ala13=)
c.123C>G (p.Ala41=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978103G=CA1982686336UCP2c.127-7C= (n.127-7C=)
c.39C= (p.Ala13=)
c.123C= (p.Ala41=)
11g.73978104G>ACA381812025UCP2c.127-8C>T (n.127-8C>T)
c.38C>T (p.Ala13Val)
c.122C>T (p.Ala41Val)
11g.73978104G>CCA381812026UCP2c.127-8C>G (n.127-8C>G)
c.38C>G (p.Ala13Gly)
c.122C>G (p.Ala41Gly)
11g.73978104G>TCA381812027UCP2c.127-8C>A (n.127-8C>A)
c.38C>A (p.Ala13Asp)
c.122C>A (p.Ala41Asp)
11g.73978105C>ACA381812028UCP2c.127-9G>T (n.127-9G>T)
c.37G>T (p.Ala13Ser)
c.121G>T (p.Ala41Ser)
11g.73978105C=CA1982686338UCP2c.127-9G= (n.127-9G=)
c.37G= (p.Ala13=)
c.121G= (p.Ala41=)
11g.73978105C>GCA381812029UCP2c.127-9G>C (n.127-9G>C)
c.37G>C (p.Ala13Pro)
c.121G>C (p.Ala41Pro)
11g.73978105C>TCA381812030UCP2c.127-9G>A (n.127-9G>A)
c.37G>A (p.Ala13Thr)
c.121G>A (p.Ala41Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.73978106C>ACA381812031UCP2c.127-10G>T (n.127-10G>T)
c.36G>T (p.Leu12Phe)
c.120G>T (p.Leu40Phe)
11g.73978106C>GCA381812032UCP2c.127-10G>C (n.127-10G>C)
c.36G>C (p.Leu12Phe)
c.120G>C (p.Leu40Phe)
11g.73978106C>TCA2615057401UCP2c.127-10G>A (n.127-10G>A)
c.36G>A (p.Leu12=)
c.120G>A (p.Leu40=)
 gnomAD v4
11g.73978107A>CCA381812035UCP2c.127-11T>G (n.127-11T>G)
c.35T>G (p.Leu12Trp)
c.119T>G (p.Leu40Trp)
11g.73978107A>GCA381812033UCP2c.127-11T>C (n.127-11T>C)
c.35T>C (p.Leu12Ser)
c.119T>C (p.Leu40Ser)
11g.73978107A>TCA381812034UCP2c.127-11T>A (n.127-11T>A)
c.35T>A (p.Leu12Ter)
c.119T>A (p.Leu40Ter)
11g.73978108A>CCA381812036UCP2c.127-12T>G (n.127-12T>G)
c.34T>G (p.Leu12Val)
c.118T>G (p.Leu40Val)
11g.73978108A>TCA381812037UCP2c.127-12T>A (n.127-12T>A)
c.34T>A (p.Leu12Met)
c.118T>A (p.Leu40Met)
11g.73978110A>CCA381812038UCP2c.127-14T>G (n.127-14T>G)
c.32T>G (p.Val11Gly)
c.116T>G (p.Val39Gly)
11g.73978110A>GCA381812039UCP2c.127-14T>C (n.127-14T>C)
c.32T>C (p.Val11Ala)
c.116T>C (p.Val39Ala)
11g.73978110A>TCA381812040UCP2c.127-14T>A (n.127-14T>A)
c.32T>A (p.Val11Asp)
c.116T>A (p.Val39Asp)
11g.73978111C>ACA381812041UCP2c.127-15G>T (n.127-15G>T)
c.31G>T (p.Val11Phe)
c.115G>T (p.Val39Phe)
11g.73978111C>GCA381812042UCP2c.127-15G>C (n.127-15G>C)
c.31G>C (p.Val11Leu)
c.115G>C (p.Val39Leu)
11g.73978111C>TCA381812043UCP2c.127-15G>A (n.127-15G>A)
c.31G>A (p.Val11Ile)
c.115G>A (p.Val39Ile)
11g.73978111_73978113delinsCAGCA1982686339UCP2c.127-17_127-15delinsCTG (n.127-17_127-15delinsCTG)
c.29_31delinsCTG (p.Pro10=)
c.113_115delinsCTG (p.Pro38=)
11g.73978112_73978113delCA6181237UCP2c.127-17_127-16del (n.127-17_127-16del)
c.29_30del (p.Pro10ArgfsTer?)
c.113_114del (p.Pro38ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978113G>ACA381812044UCP2c.127-17C>T (n.127-17C>T)
c.29C>T (p.Pro10Leu)
c.113C>T (p.Pro38Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.73978113G>CCA6181238UCP2c.127-17C>G (n.127-17C>G)
c.29C>G (p.Pro10Arg)
c.113C>G (p.Pro38Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.73978113G=CA1982686340UCP2c.127-17C= (n.127-17C=)
c.29C= (p.Pro10=)
c.113C= (p.Pro38=)
11g.73978113G>TCA381812045UCP2c.127-17C>A (n.127-17C>A)
c.29C>A (p.Pro10His)
c.113C>A (p.Pro38His)
11g.73978114G>ACA381812047UCP2c.127-18C>T (n.127-18C>T)
c.28C>T (p.Pro10Ser)
c.112C>T (p.Pro38Ser)
11g.73978114G>CCA381812046UCP2c.127-18C>G (n.127-18C>G)
c.28C>G (p.Pro10Ala)
c.112C>G (p.Pro38Ala)
11g.73978114G=CA1982686341UCP2c.127-18C= (n.127-18C=)
c.28C= (p.Pro10=)
c.112C= (p.Pro38=)
11g.73978114G>TCA224505827UCP2c.127-18C>A (n.127-18C>A)
c.28C>A (p.Pro10Thr)
c.112C>A (p.Pro38Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978115G>CCA381812048UCP2c.127-19C>G (n.127-19C>G)
c.27C>G (p.Tyr9Ter)
c.111C>G (p.Tyr37Ter)
11g.73978115G>TCA381812049UCP2c.127-19C>A (n.127-19C>A)
c.27C>A (p.Tyr9Ter)
c.111C>A (p.Tyr37Ter)
11g.73978116T>ACA381812050UCP2c.127-20A>T (n.127-20A>T)
c.26A>T (p.Tyr9Phe)
c.110A>T (p.Tyr37Phe)
11g.73978116T>CCA381812051UCP2c.127-20A>G (n.127-20A>G)
c.26A>G (p.Tyr9Cys)
c.110A>G (p.Tyr37Cys)
 gnomAD v4
11g.73978116T>GCA381812052UCP2c.127-20A>C (n.127-20A>C)
c.26A>C (p.Tyr9Ser)
c.110A>C (p.Tyr37Ser)
11g.73978117A=CA1982686342UCP2c.127-21T= (n.127-21T=)
c.25T= (p.Tyr9=)
c.109T= (p.Tyr37=)
11g.73978117A>CCA381812053UCP2c.127-21T>G (n.127-21T>G)
c.25T>G (p.Tyr9Asp)
c.109T>G (p.Tyr37Asp)
11g.73978117A>GCA381812054UCP2c.127-21T>C (n.127-21T>C)
c.25T>C (p.Tyr9His)
c.109T>C (p.Tyr37His)
 dbSNP gnomAD v3 gnomAD v4
11g.73978117A>TCA381812055UCP2c.127-21T>A (n.127-21T>A)
c.25T>A (p.Tyr9Asn)
c.109T>A (p.Tyr37Asn)
11g.73978118G>CCA381812056UCP2c.127-22C>G (n.127-22C>G)
c.24C>G (p.Ser8Arg)
c.108C>G (p.Ser36Arg)
11g.73978118G=CA1982686343UCP2c.127-22C= (n.127-22C=)
c.24C= (p.Ser8=)
c.108C= (p.Ser36=)
11g.73978118G>TCA6181239UCP2c.127-22C>A (n.127-22C>A)
c.24C>A (p.Ser8Arg)
c.108C>A (p.Ser36Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978119C>ACA381812057UCP2c.127-23G>T (n.127-23G>T)
c.23G>T (p.Ser8Ile)
c.107G>T (p.Ser36Ile)
11g.73978119C>GCA381812058UCP2c.127-23G>C (n.127-23G>C)
c.23G>C (p.Ser8Thr)
c.107G>C (p.Ser36Thr)
11g.73978119C>TCA381812059UCP2c.127-23G>A (n.127-23G>A)
c.23G>A (p.Ser8Asn)
c.107G>A (p.Ser36Asn)
11g.73978120T>ACA381812061UCP2c.127-24A>T (n.127-24A>T)
c.22A>T (p.Ser8Cys)
c.106A>T (p.Ser36Cys)
11g.73978120T>CCA6181240UCP2c.127-24A>G (n.127-24A>G)
c.22A>G (p.Ser8Gly)
c.106A>G (p.Ser36Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978120T>GCA381812060UCP2c.127-24A>C (n.127-24A>C)
c.22A>C (p.Ser8Arg)
c.106A>C (p.Ser36Arg)
11g.73978120T=CA1982686344UCP2c.127-24A= (n.127-24A=)
c.22A= (p.Ser8=)
c.106A= (p.Ser36=)
11g.73978121A>CCA381812062UCP2c.127-25T>G (n.127-25T>G)
c.21T>G (p.Cys7Trp)
c.105T>G (p.Cys35Trp)
11g.73978121A>TCA381812063UCP2c.127-25T>A (n.127-25T>A)
c.21T>A (p.Cys7Ter)
c.105T>A (p.Cys35Ter)
11g.73978122C>ACA224505842UCP2c.127-26G>T (n.127-26G>T)
c.20G>T (p.Cys7Phe)
c.104G>T (p.Cys35Phe)
 dbSNP
11g.73978122C=CA1982686345UCP2c.127-26G= (n.127-26G=)
c.20G= (p.Cys7=)
c.104G= (p.Cys35=)
11g.73978122C>GCA381812064UCP2c.127-26G>C (n.127-26G>C)
c.20G>C (p.Cys7Ser)
c.104G>C (p.Cys35Ser)
11g.73978122C>TCA6181241UCP2c.127-26G>A (n.127-26G>A)
c.20G>A (p.Cys7Tyr)
c.104G>A (p.Cys35Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978123A>CCA381812065UCP2c.127-27T>G (n.127-27T>G)
c.19T>G (p.Cys7Gly)
c.103T>G (p.Cys35Gly)
11g.73978123A>GCA381812066UCP2c.127-27T>C (n.127-27T>C)
c.19T>C (p.Cys7Arg)
c.103T>C (p.Cys35Arg)
 gnomAD v4
11g.73978123A>TCA381812067UCP2c.127-27T>A (n.127-27T>A)
c.19T>A (p.Cys7Ser)
c.103T>A (p.Cys35Ser)
11g.73978123_73978124delinsAGCA1982686346UCP2c.127-28_127-27delinsCT (n.127-28_127-27delinsCT)
c.18_19delinsCT (p.Pro6=)
c.102_103delinsCT (p.Pro34=)
11g.73978124G>ACA6181243UCP2c.127-28C>T (n.127-28C>T)
c.18C>T (p.Pro6=)
c.102C>T (p.Pro34=)
 dbSNP ExAC
11g.73978124G=CA1982686347UCP2c.127-28C= (n.127-28C=)
c.18C= (p.Pro6=)
c.102C= (p.Pro34=)
11g.73978126delCA6181242UCP2c.127-28del (n.127-28del)
c.18del (p.Cys7ValfsTer29)
c.102del (p.Cys35ValfsTer29)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978125G>ACA381812068UCP2c.127-29C>T (n.127-29C>T)
c.17C>T (p.Pro6Leu)
c.101C>T (p.Pro34Leu)
11g.73978125G>CCA6181244UCP2c.127-29C>G (n.127-29C>G)
c.17C>G (p.Pro6Arg)
c.101C>G (p.Pro34Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978125G=CA1982686348UCP2c.127-29C= (n.127-29C=)
c.17C= (p.Pro6=)
c.101C= (p.Pro34=)
11g.73978125G>TCA381812069UCP2c.127-29C>A (n.127-29C>A)
c.17C>A (p.Pro6His)
c.101C>A (p.Pro34His)
11g.73978126G>ACA381812072UCP2c.127-30C>T (n.127-30C>T)
c.16C>T (p.Pro6Ser)
c.100C>T (p.Pro34Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978126G>CCA381812070UCP2c.127-30C>G (n.127-30C>G)
c.16C>G (p.Pro6Ala)
c.100C>G (p.Pro34Ala)
11g.73978126G=CA1982686349UCP2c.127-30C= (n.127-30C=)
c.16C= (p.Pro6=)
c.100C= (p.Pro34=)
11g.73978126G>TCA381812071UCP2c.127-30C>A (n.127-30C>A)
c.16C>A (p.Pro6Thr)
c.100C>A (p.Pro34Thr)
11g.73978127A>CCA381812073UCP2c.127-31T>G (n.127-31T>G)
c.15T>G (p.Tyr5Ter)
c.99T>G (p.Tyr33Ter)
11g.73978127A>TCA381812074UCP2c.127-31T>A (n.127-31T>A)
c.15T>A (p.Tyr5Ter)
c.99T>A (p.Tyr33Ter)
11g.73978128T>ACA381812075UCP2c.127-32A>T (n.127-32A>T)
c.14A>T (p.Tyr5Phe)
c.98A>T (p.Tyr33Phe)
11g.73978128T>CCA381812076UCP2c.127-32A>G (n.127-32A>G)
c.14A>G (p.Tyr5Cys)
c.98A>G (p.Tyr33Cys)
11g.73978128T>GCA381812077UCP2c.127-32A>C (n.127-32A>C)
c.14A>C (p.Tyr5Ser)
c.98A>C (p.Tyr33Ser)
11g.73978129A>CCA381812078UCP2c.127-33T>G (n.127-33T>G)
c.13T>G (p.Tyr5Asp)
c.97T>G (p.Tyr33Asp)
11g.73978129A>GCA381812079UCP2c.127-33T>C (n.127-33T>C)
c.13T>C (p.Tyr5His)
c.97T>C (p.Tyr33His)
 gnomAD v4
11g.73978129A>TCA381812080UCP2c.127-33T>A (n.127-33T>A)
c.13T>A (p.Tyr5Asn)
c.97T>A (p.Tyr33Asn)
11g.73978130A=CA1982686350UCP2c.127-34T= (n.127-34T=)
c.12T= (p.Ala4=)
c.96T= (p.Ala32=)
11g.73978130A>GCA680128134UCP2c.127-34T>C (n.127-34T>C)
c.12T>C (p.Ala4=)
c.96T>C (p.Ala32=)
 dbSNP gnomAD v3 gnomAD v4
11g.73978131G>ACA381812081UCP2c.127-35C>T (n.127-35C>T)
c.11C>T (p.Ala4Val)
c.95C>T (p.Ala32Val)
 dbSNP gnomAD v2 gnomAD v4
11g.73978131G>CCA381812082UCP2c.127-35C>G (n.127-35C>G)
c.11C>G (p.Ala4Gly)
c.95C>G (p.Ala32Gly)
11g.73978131G=CA1982686351UCP2c.127-35C= (n.127-35C=)
c.11C= (p.Ala4=)
c.95C= (p.Ala32=)
11g.73978131G>TCA381812083UCP2c.127-35C>A (n.127-35C>A)
c.11C>A (p.Ala4Asp)
c.95C>A (p.Ala32Asp)
11g.73978132C>ACA381812084UCP2c.127-36G>T (n.127-36G>T)
c.10G>T (p.Ala4Ser)
c.94G>T (p.Ala32Ser)
11g.73978132C=CA1982686352UCP2c.127-36G= (n.127-36G=)
c.10G= (p.Ala4=)
c.94G= (p.Ala32=)
11g.73978132C>GCA381812085UCP2c.127-36G>C (n.127-36G>C)
c.10G>C (p.Ala4Pro)
c.94G>C (p.Ala32Pro)
11g.73978132C>TCA224505855UCP2c.127-36G>A (n.127-36G>A)
c.10G>A (p.Ala4Thr)
c.94G>A (p.Ala32Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978133A>CCA381812086UCP2c.127-37T>G (n.127-37T>G)
c.9T>G (p.His3Gln)
c.93T>G (p.His31Gln)
11g.73978133A>GCA2615057451UCP2c.127-37T>C (n.127-37T>C)
c.9T>C (p.His3=)
c.93T>C (p.His31=)
 gnomAD v4
11g.73978133A>TCA381812087UCP2c.127-37T>A (n.127-37T>A)
c.9T>A (p.His3Gln)
c.93T>A (p.His31Gln)
 dbSNP gnomAD v4
11g.73978134T>ACA381812088UCP2c.127-38A>T (n.127-38A>T)
c.8A>T (p.His3Leu)
c.92A>T (p.His31Leu)
11g.73978134T>CCA381812089UCP2c.127-38A>G (n.127-38A>G)
c.8A>G (p.His3Arg)
c.92A>G (p.His31Arg)
 dbSNP gnomAD v4
11g.73978134T>GCA381812090UCP2c.127-38A>C (n.127-38A>C)
c.8A>C (p.His3Pro)
c.92A>C (p.His31Pro)
 gnomAD v4
11g.73978134T=CA1982686353UCP2c.127-38A= (n.127-38A=)
c.8A= (p.His3=)
c.92A= (p.His31=)
11g.73978134_73978143delCA2615057453UCP2c.127-47_127-38del (n.127-47_127-38del)
c.83_92del (p.Glu28ValfsTer?)
 gnomAD v4
11g.73978135G>ACA381812091UCP2c.127-39C>T (n.127-39C>T)
c.7C>T (p.His3Tyr)
c.91C>T (p.His31Tyr)
 COSMIC
11g.73978135G>CCA381812092UCP2c.127-39C>G (n.127-39C>G)
c.7C>G (p.His3Asp)
c.91C>G (p.His31Asp)
11g.73978135G>TCA381812093UCP2c.127-39C>A (n.127-39C>A)
c.7C>A (p.His3Asn)
c.91C>A (p.His31Asn)
11g.73978136T>ACA381812094UCP2c.127-40A>T (n.127-40A>T)
c.6A>T (p.Gln2His)
c.90A>T (p.Gln30His)
11g.73978136T>CCA2574920891UCP2c.127-40A>G (n.127-40A>G)
c.6A>G (p.Gln2=)
c.90A>G (p.Gln30=)
11g.73978136T>GCA381812095UCP2c.127-40A>C (n.127-40A>C)
c.6A>C (p.Gln2His)
c.90A>C (p.Gln30His)
 dbSNP
11g.73978136T=CA1982686354UCP2c.127-40A= (n.127-40A=)
c.6A= (p.Gln2=)
c.90A= (p.Gln30=)
11g.73978137T>ACA381812096UCP2c.127-41A>T (n.127-41A>T)
c.5A>T (p.Gln2Leu)
c.89A>T (p.Gln30Leu)
11g.73978137T>CCA381812097UCP2c.127-41A>G (n.127-41A>G)
c.5A>G (p.Gln2Arg)
c.89A>G (p.Gln30Arg)
11g.73978137T>GCA381812098UCP2c.127-41A>C (n.127-41A>C)
c.5A>C (p.Gln2Pro)
c.89A>C (p.Gln30Pro)
11g.73978138G>ACA6181245UCP2c.127-42C>T (n.127-42C>T)
c.4C>T (p.Gln2Ter)
c.88C>T (p.Gln30Ter)
 dbSNP ExAC gnomAD v2
11g.73978138G>CCA381812100UCP2c.127-42C>G (n.127-42C>G)
c.4C>G (p.Gln2Glu)
c.88C>G (p.Gln30Glu)
11g.73978138G=CA1982686355UCP2c.127-42C= (n.127-42C=)
c.4C= (p.Gln2=)
c.88C= (p.Gln30=)
11g.73978138G>TCA381812099UCP2c.127-42C>A (n.127-42C>A)
c.4C>A (p.Gln2Lys)
c.88C>A (p.Gln30Lys)
11g.73978140C>ACA381812101UCP2c.127-44G>T (n.127-44G>T)
c.2G>T (p.Gly1Val)
c.86G>T (p.Gly29Val)
11g.73978140C>GCA381812102UCP2c.127-44G>C (n.127-44G>C)
c.2G>C (p.Gly1Ala)
c.86G>C (p.Gly29Ala)
11g.73978140C>TCA381812103UCP2c.127-44G>A (n.127-44G>A)
c.2G>A (p.Gly1Glu)
c.86G>A (p.Gly29Glu)
11g.73978141C>ACA381812104UCP2c.127-45G>T (n.127-45G>T)
c.1G>T (p.Gly1Trp)
c.85G>T (p.Gly29Trp)
 gnomAD v4
11g.73978141C=CA1982686356UCP2c.127-45G= (n.127-45G=)
c.1G= (p.Gly1=)
c.85G= (p.Gly29=)
11g.73978141C>GCA381812105UCP2c.127-45G>C (n.127-45G>C)
c.1G>C (p.Gly1Arg)
c.85G>C (p.Gly29Arg)
 gnomAD v4
11g.73978141C>TCA381812106UCP2c.127-45G>A (n.127-45G>A)
c.1G>A (p.Gly1Arg)
c.85G>A (p.Gly29Arg)
 dbSNP gnomAD v4
11g.73978142T>CCA224505857UCP2c.127-46A>G (n.127-46A>G)
c.84A>G (p.Glu28=)
 dbSNP gnomAD v3 gnomAD v4
11g.73978142T=CA1982686357UCP2c.127-46A= (n.127-46A=)
c.84A= (p.Glu28=)
11g.73978144C=CA1982686358UCP2c.127-48G= (n.127-48G=)
c.82G= (p.Glu28=)
11g.73978144C>TCA600245087UCP2c.127-48G>A (n.127-48G>A)
c.82G>A (p.Glu28Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978145C>GCA2615057462UCP2c.127-49G>C (n.127-49G>C)
c.81G>C (p.Trp27Cys)
 gnomAD v4
11g.73978146C>ACA2792698451UCP2c.127-50G>T (n.127-50G>T)
c.80G>T (p.Trp27Leu)
11g.73978146C=CA1982686359UCP2c.127-50G= (n.127-50G=)
c.80G= (p.Trp27=)
11g.73978146C>TCA224505863UCP2c.127-50G>A (n.127-50G>A)
c.80G>A (p.Trp27Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.73978150T>CCA2615057465UCP2c.127-54A>G (n.127-54A>G)
c.76A>G (p.Arg26Gly)
 gnomAD v4
11g.73978151C=CA1982686360UCP2c.127-55G= (n.127-55G=)
c.75G= (p.Trp25=)
11g.73978151C>TCA224505866UCP2c.127-55G>A (n.127-55G>A)
c.75G>A (p.Trp25Ter)
 dbSNP gnomAD v4
11g.73978152_73978153delCA2615057472UCP2c.127-57_127-56del (n.127-57_127-56del)
c.73_74del (p.Trp25GlufsTer11)
 gnomAD v4
11g.73978155T>GCA1982686362UCP2c.127-59A>C (n.127-59A>C)
c.71A>C (p.Asp24Ala)
 dbSNP gnomAD v4
11g.73978155T=CA1982686361UCP2c.127-59A= (n.127-59A=)
c.71A= (p.Asp24=)
11g.73978156C>TCA2615057474UCP2c.127-60G>A (n.127-60G>A)
c.70G>A (p.Asp24Asn)
 gnomAD v4
11g.73978158T>CCA1982686364UCP2c.127-62A>G (n.127-62A>G)
c.68A>G (p.Asp23Gly)
 dbSNP gnomAD v4
11g.73978158T=CA1982686363UCP2c.127-62A= (n.127-62A=)
c.68A= (p.Asp23=)
11g.73978161C=CA1982686365UCP2c.127-65G= (n.127-65G=)
c.65G= (p.Arg22=)
11g.73978161C>TCA6181246UCP2c.127-65G>A (n.127-65G>A)
c.65G>A (p.Arg22Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978162G>ACA224505872UCP2c.127-66C>T (n.127-66C>T)
c.64C>T (p.Arg22Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978162G>CCA6181247UCP2c.127-66C>G (n.127-66C>G)
c.64C>G (p.Arg22Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978162G=CA1982686366UCP2c.127-66C= (n.127-66C=)
c.64C= (p.Arg22=)
11g.73978162G>TCA2615057484UCP2c.127-66C>A (n.127-66C>A)
c.64C>A (p.Arg22=)
 gnomAD v4
11g.73978164T>ACA1982686368UCP2c.127-68A>T (n.127-68A>T)
c.62A>T (p.His21Leu)
 dbSNP gnomAD v4
11g.73978164T>CCA2615057490UCP2c.127-68A>G (n.127-68A>G)
c.62A>G (p.His21Arg)
 gnomAD v4
11g.73978164T=CA1982686367UCP2c.127-68A= (n.127-68A=)
c.62A= (p.His21=)
11g.73978165G>ACA2615057493UCP2c.127-69C>T (n.127-69C>T)
c.61C>T (p.His21Tyr)
 gnomAD v4
11g.73978168C=CA1982686369UCP2c.127-72G= (n.127-72G=)
c.58G= (p.Glu20=)
11g.73978168C>TCA680128187UCP2c.127-72G>A (n.127-72G>A)
c.58G>A (p.Glu20Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.73978169C=CA1982686370UCP2c.127-73G= (n.127-73G=)
c.57G= (p.Leu19=)
11g.73978169C>TCA939553493UCP2c.127-73G>A (n.127-73G>A)
c.57G>A (p.Leu19=)
 dbSNP gnomAD v3 gnomAD v4
11g.73978170A>CCA2615057499UCP2c.127-74T>G (n.127-74T>G)
c.56T>G (p.Leu19Trp)
 gnomAD v4
11g.73978170A>GCA2724490890UCP2c.127-74T>C (n.127-74T>C)
c.56T>C (p.Leu19Ser)
 dbSNP
11g.73978172dupCA600245090UCP2c.127-74dup (n.127-74dup)
c.56dup (p.Leu19PhefsTer6)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched