Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53409013_53409014delCA2820947349SMC1Ac.1545+51_1545+52del (n.1545+51_1545+52del)
c.777+51_777+52del (n.777+51_777+52del)
n.897+51_897+52del
c.1479+51_1479+52del (n.1479+51_1479+52del)
Xg.53409012G>TCA2693805393SMC1Ac.1545+50C>A (n.1545+50C>A)
c.777+50C>A (n.777+50C>A)
n.897+50C>A
c.1479+50C>A (n.1479+50C>A)
 gnomAD v4
Xg.53409014G>ACA10420547SMC1Ac.1545+48C>T (n.1545+48C>T)
c.777+48C>T (n.777+48C>T)
n.897+48C>T
c.1479+48C>T (n.1479+48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409014G=CA2429826441SMC1Ac.1545+48C= (n.1545+48C=)
c.777+48C= (n.777+48C=)
n.897+48C=
c.1479+48C= (n.1479+48C=)
Xg.53409014G>TCA2693805394SMC1Ac.1545+48C>A (n.1545+48C>A)
c.777+48C>A (n.777+48C>A)
n.897+48C>A
c.1479+48C>A (n.1479+48C>A)
 gnomAD v4
Xg.53409015A>TCA2579615834SMC1Ac.1545+47T>A (n.1545+47T>A)
c.777+47T>A (n.777+47T>A)
n.897+47T>A
c.1479+47T>A (n.1479+47T>A)
Xg.53409016C=CA2429826444SMC1Ac.1545+46G= (n.1545+46G=)
c.777+46G= (n.777+46G=)
n.897+46G=
c.1479+46G= (n.1479+46G=)
Xg.53409016C>TCA10420548SMC1Ac.1545+46G>A (n.1545+46G>A)
c.777+46G>A (n.777+46G>A)
n.897+46G>A
c.1479+46G>A (n.1479+46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53409017A>GCA2555358608SMC1Ac.1545+45T>C (n.1545+45T>C)
c.777+45T>C (n.777+45T>C)
n.897+45T>C
c.1479+45T>C (n.1479+45T>C)
 gnomAD v4
Xg.53409018G>ACA2693805395SMC1Ac.1545+44C>T (n.1545+44C>T)
c.777+44C>T (n.777+44C>T)
n.897+44C>T
c.1479+44C>T (n.1479+44C>T)
 gnomAD v4
Xg.53409018G>TCA2693805396SMC1Ac.1545+44C>A (n.1545+44C>A)
c.777+44C>A (n.777+44C>A)
n.897+44C>A
c.1479+44C>A (n.1479+44C>A)
 gnomAD v4
Xg.53409019T>CCA2693805397SMC1Ac.1545+43A>G (n.1545+43A>G)
c.777+43A>G (n.777+43A>G)
n.897+43A>G
c.1479+43A>G (n.1479+43A>G)
 gnomAD v4
Xg.53409019T>GCA2579615835SMC1Ac.1545+43A>C (n.1545+43A>C)
c.777+43A>C (n.777+43A>C)
n.897+43A>C
c.1479+43A>C (n.1479+43A>C)
 gnomAD v4
Xg.53409020G>TCA2579615836SMC1Ac.1545+42C>A (n.1545+42C>A)
c.777+42C>A (n.777+42C>A)
n.897+42C>A
c.1479+42C>A (n.1479+42C>A)
 gnomAD v4
Xg.53409021A>TCA2579615837SMC1Ac.1545+41T>A (n.1545+41T>A)
c.777+41T>A (n.777+41T>A)
n.897+41T>A
c.1479+41T>A (n.1479+41T>A)
 gnomAD v4
Xg.53409022G>CCA2579615838SMC1Ac.1545+40C>G (n.1545+40C>G)
c.777+40C>G (n.777+40C>G)
n.897+40C>G
c.1479+40C>G (n.1479+40C>G)
Xg.53409022G>TCA2693805398SMC1Ac.1545+40C>A (n.1545+40C>A)
c.777+40C>A (n.777+40C>A)
n.897+40C>A
c.1479+40C>A (n.1479+40C>A)
 gnomAD v4
Xg.53409023T>CCA641897228SMC1Ac.1545+39A>G (n.1545+39A>G)
c.777+39A>G (n.777+39A>G)
n.897+39A>G
c.1479+39A>G (n.1479+39A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.53409023T=CA2429826447SMC1Ac.1545+39A= (n.1545+39A=)
c.777+39A= (n.777+39A=)
n.897+39A=
c.1479+39A= (n.1479+39A=)
Xg.53409024G>ACA641897229SMC1Ac.1545+38C>T (n.1545+38C>T)
c.777+38C>T (n.777+38C>T)
n.897+38C>T
c.1479+38C>T (n.1479+38C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409024G>CCA10420549SMC1Ac.1545+38C>G (n.1545+38C>G)
c.777+38C>G (n.777+38C>G)
n.897+38C>G
c.1479+38C>G (n.1479+38C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409024G=CA2429826451SMC1Ac.1545+38C= (n.1545+38C=)
c.777+38C= (n.777+38C=)
n.897+38C=
c.1479+38C= (n.1479+38C=)
Xg.53409024G>TCA2579615839SMC1Ac.1545+38C>A (n.1545+38C>A)
c.777+38C>A (n.777+38C>A)
n.897+38C>A
c.1479+38C>A (n.1479+38C>A)
Xg.53409025_53409026insGAAAGTCA2429826449SMC1Ac.1545+38_1545+39insTTTCAC (n.1545+38_1545+39insTTTCAC)
c.777+38_777+39insTTTCAC (n.777+38_777+39insTTTCAC)
n.897+38_897+39insTTTCAC
c.1479+38_1479+39insTTTCAC (n.1479+38_1479+39insTTTCAC)
 dbSNP
Xg.53409025dupCA641897232SMC1Ac.1545+37dup (n.1545+37dup)
c.777+37dup (n.777+37dup)
n.897+37dup
c.1479+37dup (n.1479+37dup)
 dbSNP gnomAD v2 gnomAD v4
Xg.53409026A>TCA2579615840SMC1Ac.1545+36T>A (n.1545+36T>A)
c.777+36T>A (n.777+36T>A)
n.897+36T>A
c.1479+36T>A (n.1479+36T>A)
Xg.53409027delCA2693805399SMC1Ac.1545+36del (n.1545+36del)
c.777+36del (n.777+36del)
n.897+36del
c.1479+36del (n.1479+36del)
 gnomAD v4
Xg.53409027A=CA2429826453SMC1Ac.1545+35T= (n.1545+35T=)
c.777+35T= (n.777+35T=)
n.897+35T=
c.1479+35T= (n.1479+35T=)
Xg.53409027A>CCA2693805400SMC1Ac.1545+35T>G (n.1545+35T>G)
c.777+35T>G (n.777+35T>G)
n.897+35T>G
c.1479+35T>G (n.1479+35T>G)
 gnomAD v4
Xg.53409027A>GCA641897233SMC1Ac.1545+35T>C (n.1545+35T>C)
c.777+35T>C (n.777+35T>C)
n.897+35T>C
c.1479+35T>C (n.1479+35T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409028G>ACA10420550SMC1Ac.1545+34C>T (n.1545+34C>T)
c.777+34C>T (n.777+34C>T)
n.897+34C>T
c.1479+34C>T (n.1479+34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53409028G>CCA641897234SMC1Ac.1545+34C>G (n.1545+34C>G)
c.777+34C>G (n.777+34C>G)
n.897+34C>G
c.1479+34C>G (n.1479+34C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409028G=CA2429826477SMC1Ac.1545+34C= (n.1545+34C=)
c.777+34C= (n.777+34C=)
n.897+34C=
c.1479+34C= (n.1479+34C=)
Xg.53409029T>CCA2429826482SMC1Ac.1545+33A>G (n.1545+33A>G)
c.777+33A>G (n.777+33A>G)
n.897+33A>G
c.1479+33A>G (n.1479+33A>G)
 dbSNP
Xg.53409029T=CA2429826481SMC1Ac.1545+33A= (n.1545+33A=)
c.777+33A= (n.777+33A=)
n.897+33A=
c.1479+33A= (n.1479+33A=)
Xg.53409030G>ACA2429826485SMC1Ac.1545+32C>T (n.1545+32C>T)
c.777+32C>T (n.777+32C>T)
n.897+32C>T
c.1479+32C>T (n.1479+32C>T)
 dbSNP gnomAD v4
Xg.53409030G=CA2429826484SMC1Ac.1545+32C= (n.1545+32C=)
c.777+32C= (n.777+32C=)
n.897+32C=
c.1479+32C= (n.1479+32C=)
Xg.53409030G>TCA2579615841SMC1Ac.1545+32C>A (n.1545+32C>A)
c.777+32C>A (n.777+32C>A)
n.897+32C>A
c.1479+32C>A (n.1479+32C>A)
 gnomAD v4
Xg.53409031C>TCA2693805401SMC1Ac.1545+31G>A (n.1545+31G>A)
c.777+31G>A (n.777+31G>A)
n.897+31G>A
c.1479+31G>A (n.1479+31G>A)
 gnomAD v4
Xg.53409033C>ACA2543615372SMC1Ac.1545+29G>T (n.1545+29G>T)
c.777+29G>T (n.777+29G>T)
n.897+29G>T
c.1479+29G>T (n.1479+29G>T)
Xg.53409033C>TCA2693805402SMC1Ac.1545+29G>A (n.1545+29G>A)
c.777+29G>A (n.777+29G>A)
n.897+29G>A
c.1479+29G>A (n.1479+29G>A)
 gnomAD v4
Xg.53409034A>GCA2820947351SMC1Ac.1545+28T>C (n.1545+28T>C)
c.777+28T>C (n.777+28T>C)
n.897+28T>C
c.1479+28T>C (n.1479+28T>C)
Xg.53409035G>ACA2579615842SMC1Ac.1545+27C>T (n.1545+27C>T)
c.777+27C>T (n.777+27C>T)
n.897+27C>T
c.1479+27C>T (n.1479+27C>T)
 gnomAD v4
Xg.53409036G>TCA2693805403SMC1Ac.1545+26C>A (n.1545+26C>A)
c.777+26C>A (n.777+26C>A)
n.897+26C>A
c.1479+26C>A (n.1479+26C>A)
 gnomAD v4
Xg.53409039delCA2693805404SMC1Ac.1545+25del (n.1545+25del)
c.777+25del (n.777+25del)
n.897+25del
c.1479+25del (n.1479+25del)
 gnomAD v4
Xg.53409038A>CCA2820947353SMC1Ac.1545+24T>G (n.1545+24T>G)
c.777+24T>G (n.777+24T>G)
n.897+24T>G
c.1479+24T>G (n.1479+24T>G)
Xg.53409040T>CCA1133179678SMC1Ac.1545+22A>G (n.1545+22A>G)
c.777+22A>G (n.777+22A>G)
n.897+22A>G
c.1479+22A>G (n.1479+22A>G)
 gnomAD v3 gnomAD v4
Xg.53409041G>TCA2693805405SMC1Ac.1545+21C>A (n.1545+21C>A)
c.777+21C>A (n.777+21C>A)
n.897+21C>A
c.1479+21C>A (n.1479+21C>A)
 gnomAD v4
Xg.53409042A>GCA2693805406SMC1Ac.1545+20T>C (n.1545+20T>C)
c.777+20T>C (n.777+20T>C)
n.897+20T>C
c.1479+20T>C (n.1479+20T>C)
 gnomAD v4
Xg.53409043G>ACA10420551SMC1Ac.1545+19C>T (n.1545+19C>T)
c.777+19C>T (n.777+19C>T)
n.897+19C>T
c.1479+19C>T (n.1479+19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409043G=CA2429826488SMC1Ac.1545+19C= (n.1545+19C=)
c.777+19C= (n.777+19C=)
n.897+19C=
c.1479+19C= (n.1479+19C=)
Xg.53409043G>TCA2693805407SMC1Ac.1545+19C>A (n.1545+19C>A)
c.777+19C>A (n.777+19C>A)
n.897+19C>A
c.1479+19C>A (n.1479+19C>A)
 gnomAD v4
Xg.53409044T>CCA2429826491SMC1Ac.1545+18A>G (n.1545+18A>G)
c.777+18A>G (n.777+18A>G)
n.897+18A>G
c.1479+18A>G (n.1479+18A>G)
 ClinVar dbSNP gnomAD v4
Xg.53409044T=CA2429826490SMC1Ac.1545+18A= (n.1545+18A=)
c.777+18A= (n.777+18A=)
n.897+18A=
c.1479+18A= (n.1479+18A=)
Xg.53409046C>GCA2579615843SMC1Ac.1545+16G>C (n.1545+16G>C)
c.777+16G>C (n.777+16G>C)
n.897+16G>C
c.1479+16G>C (n.1479+16G>C)
Xg.53409049T>GCA2579615844SMC1Ac.1545+13A>C (n.1545+13A>C)
c.777+13A>C (n.777+13A>C)
n.897+13A>C
c.1479+13A>C (n.1479+13A>C)
Xg.53409050C>TCA2559063933SMC1Ac.1545+12G>A (n.1545+12G>A)
c.777+12G>A (n.777+12G>A)
n.897+12G>A
c.1479+12G>A (n.1479+12G>A)
Xg.53409051T>CCA2693805408SMC1Ac.1545+11A>G (n.1545+11A>G)
c.777+11A>G (n.777+11A>G)
n.897+11A>G
c.1479+11A>G (n.1479+11A>G)
 gnomAD v4
Xg.53409053T>CCA2499857389SMC1Ac.1545+9A>G (n.1545+9A>G)
c.777+9A>G (n.777+9A>G)
n.897+9A>G
c.1479+9A>G (n.1479+9A>G)
Xg.53409054G>ACA2515033322SMC1Ac.1545+8C>T (n.1545+8C>T)
c.777+8C>T (n.777+8C>T)
n.897+8C>T
c.1479+8C>T (n.1479+8C>T)
Xg.53409054G>TCA2693805409SMC1Ac.1545+8C>A (n.1545+8C>A)
c.777+8C>A (n.777+8C>A)
n.897+8C>A
c.1479+8C>A (n.1479+8C>A)
 gnomAD v4
Xg.53409055C>ACA329907442SMC1Ac.1545+7G>T (n.1545+7G>T)
c.777+7G>T (n.777+7G>T)
n.897+7G>T
c.1479+7G>T (n.1479+7G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.53409055C=CA2429826493SMC1Ac.1545+7G= (n.1545+7G=)
c.777+7G= (n.777+7G=)
n.897+7G=
c.1479+7G= (n.1479+7G=)
Xg.53409057C=CA2429826496SMC1Ac.1545+5G= (n.1545+5G=)
c.777+5G= (n.777+5G=)
n.897+5G=
c.1479+5G= (n.1479+5G=)
Xg.53409057C>TCA329907443SMC1Ac.1545+5G>A (n.1545+5G>A)
c.777+5G>A (n.777+5G>A)
n.897+5G>A
c.1479+5G>A (n.1479+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409058T>GCA272520SMC1Ac.1545+4A>C (n.1545+4A>C)
c.777+4A>C (n.777+4A>C)
n.897+4A>C
c.1479+4A>C (n.1479+4A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409058T=CA2429826501SMC1Ac.1545+4A= (n.1545+4A=)
c.777+4A= (n.777+4A=)
n.897+4A=
c.1479+4A= (n.1479+4A=)
Xg.53409060A>CCA413255199SMC1Ac.1545+2T>G (n.1545+2T>G)
c.777+2T>G (n.777+2T>G)
n.897+2T>G
c.1479+2T>G (n.1479+2T>G)
Xg.53409060A>GCA413255202SMC1Ac.1545+2T>C (n.1545+2T>C)
c.777+2T>C (n.777+2T>C)
n.897+2T>C
c.1479+2T>C (n.1479+2T>C)
Xg.53409060A>TCA413255205SMC1Ac.1545+2T>A (n.1545+2T>A)
c.777+2T>A (n.777+2T>A)
n.897+2T>A
c.1479+2T>A (n.1479+2T>A)
Xg.53409061C>ACA413255209SMC1Ac.1545+1G>T (n.1545+1G>T)
c.777+1G>T (n.777+1G>T)
n.897+1G>T
c.1479+1G>T (n.1479+1G>T)
Xg.53409061C>GCA413255216SMC1Ac.1545+1G>C (n.1545+1G>C)
c.777+1G>C (n.777+1G>C)
n.897+1G>C
c.1479+1G>C (n.1479+1G>C)
Xg.53409061C>TCA413255218SMC1Ac.1545+1G>A (n.1545+1G>A)
c.777+1G>A (n.777+1G>A)
n.897+1G>A
c.1479+1G>A (n.1479+1G>A)
Xg.53409062C>ACA516561187SMC1Ac.1545G>T (p.Val515=)
c.777G>T (p.Val259=)
n.897G>T
c.1479G>T (p.Val493=)
Xg.53409062C>GCA516561190SMC1Ac.1545G>C (p.Val515=)
c.777G>C (p.Val259=)
n.897G>C
c.1479G>C (p.Val493=)
Xg.53409062C>TCA516561193SMC1Ac.1545G>A (p.Val515=)
c.777G>A (p.Val259=)
n.897G>A
c.1479G>A (p.Val493=)
Xg.53409063A>CCA413255221SMC1Ac.1544T>G (p.Val515Gly)
c.776T>G (p.Val259Gly)
n.896T>G
c.1478T>G (p.Val493Gly)
Xg.53409063A>GCA413255224SMC1Ac.1544T>C (p.Val515Ala)
c.776T>C (p.Val259Ala)
n.896T>C
c.1478T>C (p.Val493Ala)
Xg.53409063A>TCA413255225SMC1Ac.1544T>A (p.Val515Glu)
c.776T>A (p.Val259Glu)
n.896T>A
c.1478T>A (p.Val493Glu)
Xg.53409064C>ACA413255233SMC1Ac.1543G>T (p.Val515Leu)
c.775G>T (p.Val259Leu)
n.895G>T
c.1477G>T (p.Val493Leu)
Xg.53409064C>GCA413255232SMC1Ac.1543G>C (p.Val515Leu)
c.775G>C (p.Val259Leu)
n.895G>C
c.1477G>C (p.Val493Leu)
 gnomAD v4
Xg.53409064C>TCA413255229SMC1Ac.1543G>A (p.Val515Met)
c.775G>A (p.Val259Met)
n.895G>A
c.1477G>A (p.Val493Met)
Xg.53409065A>CCA516561207SMC1Ac.1542T>G (p.Ser514=)
c.774T>G (p.Ser258=)
n.894T>G
c.1476T>G (p.Ser492=)
Xg.53409065A>GCA516561210SMC1Ac.1542T>C (p.Ser514=)
c.774T>C (p.Ser258=)
n.894T>C
c.1476T>C (p.Ser492=)
Xg.53409065A>TCA516561212SMC1Ac.1542T>A (p.Ser514=)
c.774T>A (p.Ser258=)
n.894T>A
c.1476T>A (p.Ser492=)
Xg.53409066G>ACA413255236SMC1Ac.1541C>T (p.Ser514Phe)
c.773C>T (p.Ser258Phe)
n.893C>T
c.1475C>T (p.Ser492Phe)
Xg.53409066G>CCA413255239SMC1Ac.1541C>G (p.Ser514Cys)
c.773C>G (p.Ser258Cys)
n.893C>G
c.1475C>G (p.Ser492Cys)
Xg.53409066G>TCA413255241SMC1Ac.1541C>A (p.Ser514Tyr)
c.773C>A (p.Ser258Tyr)
n.893C>A
c.1475C>A (p.Ser492Tyr)
Xg.53409067A>CCA413255243SMC1Ac.1540T>G (p.Ser514Ala)
c.772T>G (p.Ser258Ala)
n.892T>G
c.1474T>G (p.Ser492Ala)
Xg.53409067A>GCA413255245SMC1Ac.1540T>C (p.Ser514Pro)
c.772T>C (p.Ser258Pro)
n.892T>C
c.1474T>C (p.Ser492Pro)
Xg.53409067A>TCA413255247SMC1Ac.1540T>A (p.Ser514Thr)
c.772T>A (p.Ser258Thr)
n.892T>A
c.1474T>A (p.Ser492Thr)
Xg.53409068G>ACA516561231SMC1Ac.1539C>T (p.Gly513=)
c.771C>T (p.Gly257=)
n.891C>T
c.1473C>T (p.Gly491=)
Xg.53409068G>CCA516561237SMC1Ac.1539C>G (p.Gly513=)
c.771C>G (p.Gly257=)
n.891C>G
c.1473C>G (p.Gly491=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53409068G=CA2429826504SMC1Ac.1539C= (p.Gly513=)
c.771C= (p.Gly257=)
n.891C=
c.1473C= (p.Gly491=)
Xg.53409068G>TCA516561233SMC1Ac.1539C>A (p.Gly513=)
c.771C>A (p.Gly257=)
n.891C>A
c.1473C>A (p.Gly491=)
Xg.53409069C>ACA413255249SMC1Ac.1538G>T (p.Gly513Val)
c.770G>T (p.Gly257Val)
n.890G>T
c.1472G>T (p.Gly491Val)
Xg.53409069C>GCA413255251SMC1Ac.1538G>C (p.Gly513Ala)
c.770G>C (p.Gly257Ala)
n.890G>C
c.1472G>C (p.Gly491Ala)
Xg.53409069C>TCA413255252SMC1Ac.1538G>A (p.Gly513Asp)
c.770G>A (p.Gly257Asp)
n.890G>A
c.1472G>A (p.Gly491Asp)
Xg.53409070C>ACA413255254SMC1Ac.1537G>T (p.Gly513Cys)
c.769G>T (p.Gly257Cys)
n.889G>T
c.1471G>T (p.Gly491Cys)
Xg.53409070C>GCA413255256SMC1Ac.1537G>C (p.Gly513Arg)
c.769G>C (p.Gly257Arg)
n.889G>C
c.1471G>C (p.Gly491Arg)
 gnomAD v4
Xg.53409070C>TCA413255258SMC1Ac.1537G>A (p.Gly513Ser)
c.769G>A (p.Gly257Ser)
n.889G>A
c.1471G>A (p.Gly491Ser)
Xg.53409071A=CA2429826505SMC1Ac.1536T= (p.Pro512=)
c.768T= (p.Pro256=)
n.888T=
c.1470T= (p.Pro490=)
Xg.53409071A>CCA516561243SMC1Ac.1536T>G (p.Pro512=)
c.768T>G (p.Pro256=)
n.888T>G
c.1470T>G (p.Pro490=)
Xg.53409071A>GCA329907444SMC1Ac.1536T>C (p.Pro512=)
c.768T>C (p.Pro256=)
n.888T>C
c.1470T>C (p.Pro490=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53409071A>TCA516561247SMC1Ac.1536T>A (p.Pro512=)
c.768T>A (p.Pro256=)
n.888T>A
c.1470T>A (p.Pro490=)
Xg.53409072G>ACA413255264SMC1Ac.1535C>T (p.Pro512Leu)
c.767C>T (p.Pro256Leu)
n.887C>T
c.1469C>T (p.Pro490Leu)
Xg.53409072G>CCA413255261SMC1Ac.1535C>G (p.Pro512Arg)
c.767C>G (p.Pro256Arg)
n.887C>G
c.1469C>G (p.Pro490Arg)
Xg.53409072G>TCA413255263SMC1Ac.1535C>A (p.Pro512His)
c.767C>A (p.Pro256His)
n.887C>A
c.1469C>A (p.Pro490His)
 COSMIC
Xg.53409073G>ACA413255267SMC1Ac.1534C>T (p.Pro512Ser)
c.766C>T (p.Pro256Ser)
n.886C>T
c.1468C>T (p.Pro490Ser)
 gnomAD v4 COSMIC
Xg.53409073G>CCA413255268SMC1Ac.1534C>G (p.Pro512Ala)
c.766C>G (p.Pro256Ala)
n.886C>G
c.1468C>G (p.Pro490Ala)
Xg.53409073G>TCA413255270SMC1Ac.1534C>A (p.Pro512Thr)
c.766C>A (p.Pro256Thr)
n.886C>A
c.1468C>A (p.Pro490Thr)
Xg.53409074G>ACA516561279SMC1Ac.1533C>T (p.Tyr511=)
c.765C>T (p.Tyr255=)
n.885C>T
c.1467C>T (p.Tyr489=)
Xg.53409074G>CCA413255271SMC1Ac.1533C>G (p.Tyr511Ter)
c.765C>G (p.Tyr255Ter)
n.885C>G
c.1467C>G (p.Tyr489Ter)
Xg.53409074G>TCA413255273SMC1Ac.1533C>A (p.Tyr511Ter)
c.765C>A (p.Tyr255Ter)
n.885C>A
c.1467C>A (p.Tyr489Ter)
Xg.53409075T>ACA413255275SMC1Ac.1532A>T (p.Tyr511Phe)
c.764A>T (p.Tyr255Phe)
n.884A>T
c.1466A>T (p.Tyr489Phe)
 gnomAD v4
Xg.53409075T>CCA413255277SMC1Ac.1532A>G (p.Tyr511Cys)
c.764A>G (p.Tyr255Cys)
n.884A>G
c.1466A>G (p.Tyr489Cys)
Xg.53409075T>GCA413255278SMC1Ac.1532A>C (p.Tyr511Ser)
c.764A>C (p.Tyr255Ser)
n.884A>C
c.1466A>C (p.Tyr489Ser)
Xg.53409076A>CCA413255281SMC1Ac.1531T>G (p.Tyr511Asp)
c.763T>G (p.Tyr255Asp)
n.883T>G
c.1465T>G (p.Tyr489Asp)
Xg.53409076A>GCA413255282SMC1Ac.1531T>C (p.Tyr511His)
c.763T>C (p.Tyr255His)
n.883T>C
c.1465T>C (p.Tyr489His)
Xg.53409076A>TCA413255284SMC1Ac.1531T>A (p.Tyr511Asn)
c.763T>A (p.Tyr255Asn)
n.883T>A
c.1465T>A (p.Tyr489Asn)
Xg.53409078delCA2579615845SMC1Ac.1531del (p.Tyr511ThrfsTer24)
c.763del (p.Tyr255ThrfsTer24)
n.883del
c.1465del (p.Tyr489ThrfsTer24)
Xg.53409077A>CCA516561299SMC1Ac.1530T>G (p.Leu510=)
c.762T>G (p.Leu254=)
n.882T>G
c.1464T>G (p.Leu488=)
Xg.53409077A>GCA516561302SMC1Ac.1530T>C (p.Leu510=)
c.762T>C (p.Leu254=)
n.882T>C
c.1464T>C (p.Leu488=)
Xg.53409077A>TCA516561296SMC1Ac.1530T>A (p.Leu510=)
c.762T>A (p.Leu254=)
n.882T>A
c.1464T>A (p.Leu488=)
Xg.53409078A>CCA413255290SMC1Ac.1529T>G (p.Leu510Arg)
c.761T>G (p.Leu254Arg)
n.881T>G
c.1463T>G (p.Leu488Arg)
Xg.53409078A>GCA413255288SMC1Ac.1529T>C (p.Leu510Pro)
c.761T>C (p.Leu254Pro)
n.881T>C
c.1463T>C (p.Leu488Pro)
Xg.53409078A>TCA413255286SMC1Ac.1529T>A (p.Leu510His)
c.761T>A (p.Leu254His)
n.881T>A
c.1463T>A (p.Leu488His)
Xg.53409079G>ACA413255292SMC1Ac.1528C>T (p.Leu510Phe)
c.760C>T (p.Leu254Phe)
n.880C>T
c.1462C>T (p.Leu488Phe)
Xg.53409079G>CCA413255295SMC1Ac.1528C>G (p.Leu510Val)
c.760C>G (p.Leu254Val)
n.880C>G
c.1462C>G (p.Leu488Val)
Xg.53409079G>TCA413255293SMC1Ac.1528C>A (p.Leu510Ile)
c.760C>A (p.Leu254Ile)
n.880C>A
c.1462C>A (p.Leu488Ile)
Xg.53409080G>ACA516561316SMC1Ac.1527C>T (p.Arg509=)
c.759C>T (p.Arg253=)
n.879C>T
c.1461C>T (p.Arg487=)
 dbSNP gnomAD v4
Xg.53409080G>CCA516561319SMC1Ac.1527C>G (p.Arg509=)
c.759C>G (p.Arg253=)
n.879C>G
c.1461C>G (p.Arg487=)
Xg.53409080G=CA2429826506SMC1Ac.1527C= (p.Arg509=)
c.759C= (p.Arg253=)
n.879C=
c.1461C= (p.Arg487=)
Xg.53409080G>TCA516561322SMC1Ac.1527C>A (p.Arg509=)
c.759C>A (p.Arg253=)
n.879C>A
c.1461C>A (p.Arg487=)
Xg.53409081C>ACA413255297SMC1Ac.1526G>T (p.Arg509Leu)
c.758G>T (p.Arg253Leu)
n.878G>T
c.1460G>T (p.Arg487Leu)
Xg.53409081C>GCA413255301SMC1Ac.1526G>C (p.Arg509Pro)
c.758G>C (p.Arg253Pro)
n.878G>C
c.1460G>C (p.Arg487Pro)
Xg.53409081C>TCA413255299SMC1Ac.1526G>A (p.Arg509His)
c.758G>A (p.Arg253His)
n.878G>A
c.1460G>A (p.Arg487His)
 COSMIC
Xg.53409082G>ACA413255303SMC1Ac.1525C>T (p.Arg509Cys)
c.757C>T (p.Arg253Cys)
n.877C>T
c.1459C>T (p.Arg487Cys)
 gnomAD v4 COSMIC
Xg.53409082G>CCA413255307SMC1Ac.1525C>G (p.Arg509Gly)
c.757C>G (p.Arg253Gly)
n.877C>G
c.1459C>G (p.Arg487Gly)
Xg.53409082G>TCA413255305SMC1Ac.1525C>A (p.Arg509Ser)
c.757C>A (p.Arg253Ser)
n.877C>A
c.1459C>A (p.Arg487Ser)
Xg.53409083C>ACA413255309SMC1Ac.1524G>T (p.Lys508Asn)
c.756G>T (p.Lys252Asn)
n.876G>T
c.1458G>T (p.Lys486Asn)
Xg.53409083C>GCA413255310SMC1Ac.1524G>C (p.Lys508Asn)
c.756G>C (p.Lys252Asn)
n.876G>C
c.1458G>C (p.Lys486Asn)
Xg.53409083C>TCA516561336SMC1Ac.1524G>A (p.Lys508=)
c.756G>A (p.Lys252=)
n.876G>A
c.1458G>A (p.Lys486=)
 COSMIC
Xg.53409084T>ACA413255313SMC1Ac.1523A>T (p.Lys508Met)
c.755A>T (p.Lys252Met)
n.875A>T
c.1457A>T (p.Lys486Met)
Xg.53409084T>CCA413255316SMC1Ac.1523A>G (p.Lys508Arg)
c.755A>G (p.Lys252Arg)
n.875A>G
c.1457A>G (p.Lys486Arg)
 dbSNP
Xg.53409084T>GCA413255314SMC1Ac.1523A>C (p.Lys508Thr)
c.755A>C (p.Lys252Thr)
n.875A>C
c.1457A>C (p.Lys486Thr)
Xg.53409084T=CA2429826507SMC1Ac.1523A= (p.Lys508=)
c.755A= (p.Lys252=)
n.875A=
c.1457A= (p.Lys486=)
Xg.53409085T>ACA413255317SMC1Ac.1522A>T (p.Lys508Ter)
c.754A>T (p.Lys252Ter)
n.874A>T
c.1456A>T (p.Lys486Ter)
Xg.53409085T>CCA413255320SMC1Ac.1522A>G (p.Lys508Glu)
c.754A>G (p.Lys252Glu)
n.874A>G
c.1456A>G (p.Lys486Glu)
Xg.53409085T>GCA413255319SMC1Ac.1522A>C (p.Lys508Gln)
c.754A>C (p.Lys252Gln)
n.874A>C
c.1456A>C (p.Lys486Gln)
Xg.53409086G>ACA516561351SMC1Ac.1521C>T (p.Ile507=)
c.753C>T (p.Ile251=)
n.873C>T
c.1455C>T (p.Ile485=)
Xg.53409086G>CCA413255322SMC1Ac.1521C>G (p.Ile507Met)
c.753C>G (p.Ile251Met)
n.873C>G
c.1455C>G (p.Ile485Met)
Xg.53409086G>TCA516561355SMC1Ac.1521C>A (p.Ile507=)
c.753C>A (p.Ile251=)
n.873C>A
c.1455C>A (p.Ile485=)
Xg.53409087A>CCA413255324SMC1Ac.1520T>G (p.Ile507Ser)
c.752T>G (p.Ile251Ser)
n.872T>G
c.1454T>G (p.Ile485Ser)
Xg.53409087A>GCA413255326SMC1Ac.1520T>C (p.Ile507Thr)
c.752T>C (p.Ile251Thr)
n.872T>C
c.1454T>C (p.Ile485Thr)
Xg.53409087A>TCA413255327SMC1Ac.1520T>A (p.Ile507Asn)
c.752T>A (p.Ile251Asn)
n.872T>A
c.1454T>A (p.Ile485Asn)
Xg.53409088T>ACA413255329SMC1Ac.1519A>T (p.Ile507Phe)
c.751A>T (p.Ile251Phe)
n.871A>T
c.1453A>T (p.Ile485Phe)
Xg.53409088T>CCA413255331SMC1Ac.1519A>G (p.Ile507Val)
c.751A>G (p.Ile251Val)
n.871A>G
c.1453A>G (p.Ile485Val)
Xg.53409088T>GCA413255333SMC1Ac.1519A>C (p.Ile507Leu)
c.751A>C (p.Ile251Leu)
n.871A>C
c.1453A>C (p.Ile485Leu)
Xg.53409089G>ACA516561370SMC1Ac.1518C>T (p.Ser506=)
c.750C>T (p.Ser250=)
n.870C>T
c.1452C>T (p.Ser484=)
 gnomAD v4
Xg.53409089G>CCA413255335SMC1Ac.1518C>G (p.Ser506Arg)
c.750C>G (p.Ser250Arg)
n.870C>G
c.1452C>G (p.Ser484Arg)
Xg.53409089G>TCA413255337SMC1Ac.1518C>A (p.Ser506Arg)
c.750C>A (p.Ser250Arg)
n.870C>A
c.1452C>A (p.Ser484Arg)
Xg.53409090C>ACA413255343SMC1Ac.1517G>T (p.Ser506Ile)
c.749G>T (p.Ser250Ile)
n.869G>T
c.1451G>T (p.Ser484Ile)
Xg.53409090C=CA2429826508SMC1Ac.1517G= (p.Ser506=)
c.749G= (p.Ser250=)
n.869G=
c.1451G= (p.Ser484=)
Xg.53409090C>GCA413255341SMC1Ac.1517G>C (p.Ser506Thr)
c.749G>C (p.Ser250Thr)
n.869G>C
c.1451G>C (p.Ser484Thr)
Xg.53409090C>TCA413255339SMC1Ac.1517G>A (p.Ser506Asn)
c.749G>A (p.Ser250Asn)
n.869G>A
c.1451G>A (p.Ser484Asn)
 dbSNP
Xg.53409091T>ACA413255345SMC1Ac.1516A>T (p.Ser506Cys)
c.748A>T (p.Ser250Cys)
n.868A>T
c.1450A>T (p.Ser484Cys)
Xg.53409091T>CCA413255347SMC1Ac.1516A>G (p.Ser506Gly)
c.748A>G (p.Ser250Gly)
n.868A>G
c.1450A>G (p.Ser484Gly)
Xg.53409091T>GCA413255348SMC1Ac.1516A>C (p.Ser506Arg)
c.748A>C (p.Ser250Arg)
n.868A>C
c.1450A>C (p.Ser484Arg)
Xg.53409092T>ACA413255350SMC1Ac.1515A>T (p.Glu505Asp)
c.747A>T (p.Glu249Asp)
n.867A>T
c.1449A>T (p.Glu483Asp)
Xg.53409092T>CCA516561391SMC1Ac.1515A>G (p.Glu505=)
c.747A>G (p.Glu249=)
n.867A>G
c.1449A>G (p.Glu483=)
Xg.53409092T>GCA413255352SMC1Ac.1515A>C (p.Glu505Asp)
c.747A>C (p.Glu249Asp)
n.867A>C
c.1449A>C (p.Glu483Asp)
Xg.53409093T>ACA413255354SMC1Ac.1514A>T (p.Glu505Val)
c.746A>T (p.Glu249Val)
n.866A>T
c.1448A>T (p.Glu483Val)
Xg.53409093T>CCA413255356SMC1Ac.1514A>G (p.Glu505Gly)
c.746A>G (p.Glu249Gly)
n.866A>G
c.1448A>G (p.Glu483Gly)
Xg.53409093T>GCA413255357SMC1Ac.1514A>C (p.Glu505Ala)
c.746A>C (p.Glu249Ala)
n.866A>C
c.1448A>C (p.Glu483Ala)
Xg.53409094C>ACA413255359SMC1Ac.1513G>T (p.Glu505Ter)
c.745G>T (p.Glu249Ter)
n.865G>T
c.1447G>T (p.Glu483Ter)
Xg.53409094C>GCA413255361SMC1Ac.1513G>C (p.Glu505Gln)
c.745G>C (p.Glu249Gln)
n.865G>C
c.1447G>C (p.Glu483Gln)
Xg.53409094C>TCA413255363SMC1Ac.1513G>A (p.Glu505Lys)
c.745G>A (p.Glu249Lys)
n.865G>A
c.1447G>A (p.Glu483Lys)
Xg.53409095C>ACA413255367SMC1Ac.1512G>T (p.Met504Ile)
c.744G>T (p.Met248Ile)
n.864G>T
c.1446G>T (p.Met482Ile)
Xg.53409095C>GCA413255368SMC1Ac.1512G>C (p.Met504Ile)
c.744G>C (p.Met248Ile)
n.864G>C
c.1446G>C (p.Met482Ile)
Xg.53409095C>TCA413255365SMC1Ac.1512G>A (p.Met504Ile)
c.744G>A (p.Met248Ile)
n.864G>A
c.1446G>A (p.Met482Ile)
Xg.53409096A=CA2429826509SMC1Ac.1511T= (p.Met504=)
c.743T= (p.Met248=)
n.863T=
c.1445T= (p.Met482=)
Xg.53409096A>CCA413255370SMC1Ac.1511T>G (p.Met504Arg)
c.743T>G (p.Met248Arg)
n.863T>G
c.1445T>G (p.Met482Arg)
Xg.53409096A>GCA413255372SMC1Ac.1511T>C (p.Met504Thr)
c.743T>C (p.Met248Thr)
n.863T>C
c.1445T>C (p.Met482Thr)
 dbSNP
Xg.53409096A>TCA413255373SMC1Ac.1511T>A (p.Met504Lys)
c.743T>A (p.Met248Lys)
n.863T>A
c.1445T>A (p.Met482Lys)
 gnomAD v4
Xg.53409097T>ACA413255375SMC1Ac.1510A>T (p.Met504Leu)
c.742A>T (p.Met248Leu)
n.862A>T
c.1444A>T (p.Met482Leu)
Xg.53409097T>CCA413255377SMC1Ac.1510A>G (p.Met504Val)
c.742A>G (p.Met248Val)
n.862A>G
c.1444A>G (p.Met482Val)
Xg.53409097T>GCA413255378SMC1Ac.1510A>C (p.Met504Leu)
c.742A>C (p.Met248Leu)
n.862A>C
c.1444A>C (p.Met482Leu)
Xg.53409098T>ACA516561429SMC1Ac.1509A>T (p.Ile503=)
c.741A>T (p.Ile247=)
n.861A>T
c.1443A>T (p.Ile481=)
Xg.53409098T>CCA413255380SMC1Ac.1509A>G (p.Ile503Met)
c.741A>G (p.Ile247Met)
n.861A>G
c.1443A>G (p.Ile481Met)
Xg.53409098T>GCA516561431SMC1Ac.1509A>C (p.Ile503=)
c.741A>C (p.Ile247=)
n.861A>C
c.1443A>C (p.Ile481=)
Xg.53409099A>CCA413255382SMC1Ac.1508T>G (p.Ile503Arg)
c.740T>G (p.Ile247Arg)
n.860T>G
c.1442T>G (p.Ile481Arg)
Xg.53409099A>GCA413255384SMC1Ac.1508T>C (p.Ile503Thr)
c.740T>C (p.Ile247Thr)
n.860T>C
c.1442T>C (p.Ile481Thr)
Xg.53409099A>TCA413255386SMC1Ac.1508T>A (p.Ile503Lys)
c.740T>A (p.Ile247Lys)
n.860T>A
c.1442T>A (p.Ile481Lys)
Xg.53409100T>ACA413255388SMC1Ac.1507A>T (p.Ile503Leu)
c.739A>T (p.Ile247Leu)
n.859A>T
c.1441A>T (p.Ile481Leu)
Xg.53409100T>CCA413255390SMC1Ac.1507A>G (p.Ile503Val)
c.739A>G (p.Ile247Val)
n.859A>G
c.1441A>G (p.Ile481Val)
Xg.53409100T>GCA413255392SMC1Ac.1507A>C (p.Ile503Leu)
c.739A>C (p.Ile247Leu)
n.859A>C
c.1441A>C (p.Ile481Leu)
Xg.53409101C>ACA413255394SMC1Ac.1506G>T (p.Glu502Asp)
c.738G>T (p.Glu246Asp)
n.858G>T
c.1440G>T (p.Glu480Asp)
Xg.53409101C>GCA413255396SMC1Ac.1506G>C (p.Glu502Asp)
c.738G>C (p.Glu246Asp)
n.858G>C
c.1440G>C (p.Glu480Asp)
Xg.53409101C>TCA516561455SMC1Ac.1506G>A (p.Glu502=)
c.738G>A (p.Glu246=)
n.858G>A
c.1440G>A (p.Glu480=)
Xg.53409102T>ACA413255398SMC1Ac.1505A>T (p.Glu502Val)
c.737A>T (p.Glu246Val)
n.857A>T
c.1439A>T (p.Glu480Val)
Xg.53409102T>CCA413255399SMC1Ac.1505A>G (p.Glu502Gly)
c.737A>G (p.Glu246Gly)
n.857A>G
c.1439A>G (p.Glu480Gly)
Xg.53409102T>GCA413255401SMC1Ac.1505A>C (p.Glu502Ala)
c.737A>C (p.Glu246Ala)
n.857A>C
c.1439A>C (p.Glu480Ala)
Xg.53409103C>ACA413255403SMC1Ac.1504G>T (p.Glu502Ter)
c.736G>T (p.Glu246Ter)
n.856G>T
c.1438G>T (p.Glu480Ter)
Xg.53409103C=CA2429826511SMC1Ac.1504G= (p.Glu502=)
c.736G= (p.Glu246=)
n.856G=
c.1438G= (p.Glu480=)
Xg.53409103C>GCA413255405SMC1Ac.1504G>C (p.Glu502Gln)
c.736G>C (p.Glu246Gln)
n.856G>C
c.1438G>C (p.Glu480Gln)
Xg.53409103C>TCA16608533SMC1Ac.1504G>A (p.Glu502Lys)
c.736G>A (p.Glu246Lys)
n.856G>A
c.1438G>A (p.Glu480Lys)
 ClinVar dbSNP
Xg.53409104T>ACA516561473SMC1Ac.1503A>T (p.Ala501=)
c.735A>T (p.Ala245=)
n.855A>T
c.1437A>T (p.Ala479=)
Xg.53409104T>CCA516561475SMC1Ac.1503A>G (p.Ala501=)
c.735A>G (p.Ala245=)
n.855A>G
c.1437A>G (p.Ala479=)
 gnomAD v4
Xg.53409104T>GCA516561477SMC1Ac.1503A>C (p.Ala501=)
c.735A>C (p.Ala245=)
n.855A>C
c.1437A>C (p.Ala479=)
Xg.53409105G>ACA413255408SMC1Ac.1502C>T (p.Ala501Val)
c.734C>T (p.Ala245Val)
n.854C>T
c.1436C>T (p.Ala479Val)
Xg.53409105G>CCA413255410SMC1Ac.1502C>G (p.Ala501Gly)
c.734C>G (p.Ala245Gly)
n.854C>G
c.1436C>G (p.Ala479Gly)
Xg.53409105G>TCA413255411SMC1Ac.1502C>A (p.Ala501Glu)
c.734C>A (p.Ala245Glu)
n.854C>A
c.1436C>A (p.Ala479Glu)
 gnomAD v4
Xg.53409106C>ACA413255414SMC1Ac.1501G>T (p.Ala501Ser)
c.733G>T (p.Ala245Ser)
n.853G>T
c.1435G>T (p.Ala479Ser)
Xg.53409106C>GCA413255415SMC1Ac.1501G>C (p.Ala501Pro)
c.733G>C (p.Ala245Pro)
n.853G>C
c.1435G>C (p.Ala479Pro)
Xg.53409106C>TCA413255416SMC1Ac.1501G>A (p.Ala501Thr)
c.733G>A (p.Ala245Thr)
n.853G>A
c.1435G>A (p.Ala479Thr)
 gnomAD v4
Xg.53409107C>ACA413255421SMC1Ac.1500G>T (p.Lys500Asn)
c.732G>T (p.Lys244Asn)
n.852G>T
c.1434G>T (p.Lys478Asn)
Xg.53409107C>GCA413255419SMC1Ac.1500G>C (p.Lys500Asn)
c.732G>C (p.Lys244Asn)
n.852G>C
c.1434G>C (p.Lys478Asn)
Xg.53409107C>TCA516561496SMC1Ac.1500G>A (p.Lys500=)
c.732G>A (p.Lys244=)
n.852G>A
c.1434G>A (p.Lys478=)
Xg.53409108T>ACA413255423SMC1Ac.1499A>T (p.Lys500Met)
c.731A>T (p.Lys244Met)
n.851A>T
c.1433A>T (p.Lys478Met)
Xg.53409108T>CCA413255425SMC1Ac.1499A>G (p.Lys500Arg)
c.731A>G (p.Lys244Arg)
n.851A>G
c.1433A>G (p.Lys478Arg)
Xg.53409108T>GCA413255427SMC1Ac.1499A>C (p.Lys500Thr)
c.731A>C (p.Lys244Thr)
n.851A>C
c.1433A>C (p.Lys478Thr)
 COSMIC
Xg.53409109T>ACA413255429SMC1Ac.1498A>T (p.Lys500Ter)
c.730A>T (p.Lys244Ter)
n.850A>T
c.1432A>T (p.Lys478Ter)
Xg.53409109T>CCA413255431SMC1Ac.1498A>G (p.Lys500Glu)
c.730A>G (p.Lys244Glu)
n.850A>G
c.1432A>G (p.Lys478Glu)
Xg.53409109T>GCA413255433SMC1Ac.1498A>C (p.Lys500Gln)
c.730A>C (p.Lys244Gln)
n.850A>C
c.1432A>C (p.Lys478Gln)
Xg.53409110T>ACA516561512SMC1Ac.1497A>T (p.Arg499=)
c.729A>T (p.Arg243=)
n.849A>T
c.1431A>T (p.Arg477=)
Xg.53409110T>CCA516561515SMC1Ac.1497A>G (p.Arg499=)
c.729A>G (p.Arg243=)
n.849A>G
c.1431A>G (p.Arg477=)
Xg.53409110T>GCA516561518SMC1Ac.1497A>C (p.Arg499=)
c.729A>C (p.Arg243=)
n.849A>C
c.1431A>C (p.Arg477=)
 ClinVar dbSNP
Xg.53409111C>ACA413255435SMC1Ac.1496G>T (p.Arg499Leu)
c.728G>T (p.Arg243Leu)
n.848G>T
c.1430G>T (p.Arg477Leu)
Xg.53409111C=CA2429826517SMC1Ac.1496G= (p.Arg499=)
c.728G= (p.Arg243=)
n.848G=
c.1430G= (p.Arg477=)
Xg.53409111C>GCA413255437SMC1Ac.1496G>C (p.Arg499Pro)
c.728G>C (p.Arg243Pro)
n.848G>C
c.1430G>C (p.Arg477Pro)
Xg.53409111C>TCA413255439SMC1Ac.1496G>A (p.Arg499Gln)
c.728G>A (p.Arg243Gln)
n.848G>A
c.1430G>A (p.Arg477Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409112G>ACA413255441SMC1Ac.1495C>T (p.Arg499Ter)
c.727C>T (p.Arg243Ter)
n.847C>T
c.1429C>T (p.Arg477Ter)
 ClinVar dbSNP
Xg.53409112G>CCA413255443SMC1Ac.1495C>G (p.Arg499Gly)
c.727C>G (p.Arg243Gly)
n.847C>G
c.1429C>G (p.Arg477Gly)
Xg.53409112G=CA2429826522SMC1Ac.1495C= (p.Arg499=)
c.727C= (p.Arg243=)
n.847C=
c.1429C= (p.Arg477=)
Xg.53409112G>TCA516561530SMC1Ac.1495C>A (p.Arg499=)
c.727C>A (p.Arg243=)
n.847C>A
c.1429C>A (p.Arg477=)
 gnomAD v4

Number of alleles fetched