Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154863039C=CA2466815550F8c.6574+44G= (n.6574+44G=)
c.307+44G= (n.307+44G=)
c.169+44G= (n.169+44G=)
c.6469+44G= (n.6469+44G=)
Xg.154863039C>TCA10567795F8c.6574+44G>A (n.6574+44G>A)
c.307+44G>A (n.307+44G>A)
c.169+44G>A (n.169+44G>A)
c.6469+44G>A (n.6469+44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154863040C>ACA2695167941F8c.6574+43G>T (n.6574+43G>T)
c.307+43G>T (n.307+43G>T)
c.169+43G>T (n.169+43G>T)
c.6469+43G>T (n.6469+43G>T)
 gnomAD v4
Xg.154863041C>TCA2695167942F8c.6574+42G>A (n.6574+42G>A)
c.307+42G>A (n.307+42G>A)
c.169+42G>A (n.169+42G>A)
c.6469+42G>A (n.6469+42G>A)
 gnomAD v4
Xg.154863043T>CCA873369322F8c.6574+40A>G (n.6574+40A>G)
c.307+40A>G (n.307+40A>G)
c.169+40A>G (n.169+40A>G)
c.6469+40A>G (n.6469+40A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154863043T=CA2466815551F8c.6574+40A= (n.6574+40A=)
c.307+40A= (n.307+40A=)
c.169+40A= (n.169+40A=)
c.6469+40A= (n.6469+40A=)
Xg.154863044G>ACA645238642F8c.6574+39C>T (n.6574+39C>T)
c.307+39C>T (n.307+39C>T)
c.169+39C>T (n.169+39C>T)
c.6469+39C>T (n.6469+39C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.154863044G=CA2466815553F8c.6574+39C= (n.6574+39C=)
c.307+39C= (n.307+39C=)
c.169+39C= (n.169+39C=)
c.6469+39C= (n.6469+39C=)
Xg.154863044G>TCA2695167943F8c.6574+39C>A (n.6574+39C>A)
c.307+39C>A (n.307+39C>A)
c.169+39C>A (n.169+39C>A)
c.6469+39C>A (n.6469+39C>A)
 gnomAD v4
Xg.154863047T>CCA2579752262F8c.6574+36A>G (n.6574+36A>G)
c.307+36A>G (n.307+36A>G)
c.169+36A>G (n.169+36A>G)
c.6469+36A>G (n.6469+36A>G)
Xg.154863048G>TCA2695167944F8c.6574+35C>A (n.6574+35C>A)
c.307+35C>A (n.307+35C>A)
c.169+35C>A (n.169+35C>A)
c.6469+35C>A (n.6469+35C>A)
 gnomAD v4
Xg.154863051G>TCA2695167945F8c.6574+32C>A (n.6574+32C>A)
c.307+32C>A (n.307+32C>A)
c.169+32C>A (n.169+32C>A)
c.6469+32C>A (n.6469+32C>A)
 gnomAD v4
Xg.154863052G>ACA2695167946F8c.6574+31C>T (n.6574+31C>T)
c.307+31C>T (n.307+31C>T)
c.169+31C>T (n.169+31C>T)
c.6469+31C>T (n.6469+31C>T)
 gnomAD v4
Xg.154863058G>ACA2466815556F8c.6574+25C>T (n.6574+25C>T)
c.307+25C>T (n.307+25C>T)
c.169+25C>T (n.169+25C>T)
c.6469+25C>T (n.6469+25C>T)
 dbSNP
Xg.154863058G=CA2466815554F8c.6574+25C= (n.6574+25C=)
c.307+25C= (n.307+25C=)
c.169+25C= (n.169+25C=)
c.6469+25C= (n.6469+25C=)
Xg.154863059G>TCA2695167947F8c.6574+24C>A (n.6574+24C>A)
c.307+24C>A (n.307+24C>A)
c.169+24C>A (n.169+24C>A)
c.6469+24C>A (n.6469+24C>A)
 gnomAD v4
Xg.154863062A>TCA2695167948F8c.6574+21T>A (n.6574+21T>A)
c.307+21T>A (n.307+21T>A)
c.169+21T>A (n.169+21T>A)
c.6469+21T>A (n.6469+21T>A)
 gnomAD v4
Xg.154863063T>CCA2466815558F8c.6574+20A>G (n.6574+20A>G)
c.307+20A>G (n.307+20A>G)
c.169+20A>G (n.169+20A>G)
c.6469+20A>G (n.6469+20A>G)
 dbSNP gnomAD v4
Xg.154863063T=CA2466815557F8c.6574+20A= (n.6574+20A=)
c.307+20A= (n.307+20A=)
c.169+20A= (n.169+20A=)
c.6469+20A= (n.6469+20A=)
Xg.154863064G>TCA2695167949F8c.6574+19C>A (n.6574+19C>A)
c.307+19C>A (n.307+19C>A)
c.169+19C>A (n.169+19C>A)
c.6469+19C>A (n.6469+19C>A)
 gnomAD v4
Xg.154863065G>ACA2695167950F8c.6574+18C>T (n.6574+18C>T)
c.307+18C>T (n.307+18C>T)
c.169+18C>T (n.169+18C>T)
c.6469+18C>T (n.6469+18C>T)
 gnomAD v4
Xg.154863066G>ACA645238716F8c.6574+17C>T (n.6574+17C>T)
c.307+17C>T (n.307+17C>T)
c.169+17C>T (n.169+17C>T)
c.6469+17C>T (n.6469+17C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.154863066G=CA2466815559F8c.6574+17C= (n.6574+17C=)
c.307+17C= (n.307+17C=)
c.169+17C= (n.169+17C=)
c.6469+17C= (n.6469+17C=)
Xg.154863069G>ACA658560531F8c.6574+14C>T (n.6574+14C>T)
c.307+14C>T (n.307+14C>T)
c.169+14C>T (n.169+14C>T)
c.6469+14C>T (n.6469+14C>T)
 COSMIC
Xg.154863069G=CA2466815561F8c.6574+14C= (n.6574+14C=)
c.307+14C= (n.307+14C=)
c.169+14C= (n.169+14C=)
c.6469+14C= (n.6469+14C=)
Xg.154863069G>TCA10567796F8c.6574+14C>A (n.6574+14C>A)
c.307+14C>A (n.307+14C>A)
c.169+14C>A (n.169+14C>A)
c.6469+14C>A (n.6469+14C>A)
 dbSNP ExAC gnomAD v4
Xg.154863074G>ACA645238717F8c.6574+9C>T (n.6574+9C>T)
c.307+9C>T (n.307+9C>T)
c.169+9C>T (n.169+9C>T)
c.6469+9C>T (n.6469+9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154863074G=CA2466815562F8c.6574+9C= (n.6574+9C=)
c.307+9C= (n.307+9C=)
c.169+9C= (n.169+9C=)
c.6469+9C= (n.6469+9C=)
Xg.154863074G>TCA2739117159F8c.6574+9C>A (n.6574+9C>A)
c.307+9C>A (n.307+9C>A)
c.169+9C>A (n.169+9C>A)
c.6469+9C>A (n.6469+9C>A)
 dbSNP
Xg.154863077A=CA2466815564F8c.6574+6T= (n.6574+6T=)
c.307+6T= (n.307+6T=)
c.169+6T= (n.169+6T=)
c.6469+6T= (n.6469+6T=)
Xg.154863077A>TCA10567797F8c.6574+6T>A (n.6574+6T>A)
c.307+6T>A (n.307+6T>A)
c.169+6T>A (n.169+6T>A)
c.6469+6T>A (n.6469+6T>A)
 dbSNP ExAC
Xg.154863080_154863083delCA2695237160F8c.6574+3_6574+6del
c.307+3_307+6del
c.169+3_169+6del
c.6469+3_6469+6del
Xg.154863078C>GCA2695237162F8c.6574+5G>C (n.6574+5G>C)
c.307+5G>C (n.307+5G>C)
c.169+5G>C (n.169+5G>C)
c.6469+5G>C (n.6469+5G>C)
Xg.154863078C>TCA2695237161F8c.6574+5G>A (n.6574+5G>A)
c.307+5G>A (n.307+5G>A)
c.169+5G>A (n.169+5G>A)
c.6469+5G>A (n.6469+5G>A)
Xg.154863080T>GCA2695237163F8c.6574+3A>C (n.6574+3A>C)
c.307+3A>C (n.307+3A>C)
c.169+3A>C (n.169+3A>C)
c.6469+3A>C (n.6469+3A>C)
Xg.154863081A>CCA414906761F8c.6574+2T>G (n.6574+2T>G)
c.307+2T>G (n.307+2T>G)
c.169+2T>G (n.169+2T>G)
c.6469+2T>G (n.6469+2T>G)
Xg.154863081A>GCA414906763F8c.6574+2T>C (n.6574+2T>C)
c.307+2T>C (n.307+2T>C)
c.169+2T>C (n.169+2T>C)
c.6469+2T>C (n.6469+2T>C)
Xg.154863081A>TCA414906766F8c.6574+2T>A (n.6574+2T>A)
c.307+2T>A (n.307+2T>A)
c.169+2T>A (n.169+2T>A)
c.6469+2T>A (n.6469+2T>A)
Xg.154863082C>ACA414906769F8c.6574+1G>T (n.6574+1G>T)
c.307+1G>T (n.307+1G>T)
c.169+1G>T (n.169+1G>T)
c.6469+1G>T (n.6469+1G>T)
Xg.154863082C=CA2466815566F8c.6574+1G= (n.6574+1G=)
c.307+1G= (n.307+1G=)
c.169+1G= (n.169+1G=)
c.6469+1G= (n.6469+1G=)
Xg.154863082C>GCA414906774F8c.6574+1G>C (n.6574+1G>C)
c.307+1G>C (n.307+1G>C)
c.169+1G>C (n.169+1G>C)
c.6469+1G>C (n.6469+1G>C)
Xg.154863082C>TCA414906777F8c.6574+1G>A (n.6574+1G>A)
c.307+1G>A (n.307+1G>A)
c.169+1G>A (n.169+1G>A)
c.6469+1G>A (n.6469+1G>A)
 dbSNP
Xg.154863083T>ACA414906782F8c.6574A>T (p.Ser2192Cys)
c.307A>T (p.Ser103Cys)
c.169A>T (p.Ser57Cys)
c.6469A>T (p.Ser2157Cys)
Xg.154863083T>CCA414906789F8c.6574A>G (p.Ser2192Gly)
c.307A>G (p.Ser103Gly)
c.169A>G (p.Ser57Gly)
c.6469A>G (p.Ser2157Gly)
Xg.154863083T>GCA414906786F8c.6574A>C (p.Ser2192Arg)
c.307A>C (p.Ser103Arg)
c.169A>C (p.Ser57Arg)
c.6469A>C (p.Ser2157Arg)
 dbSNP
Xg.154863083T=CA2466815568F8c.6574A= (p.Ser2192=)
c.307A= (p.Ser103=)
c.169A= (p.Ser57=)
c.6469A= (p.Ser2157=)
Xg.154863084A>CCA414906792F8c.6573T>G (p.Asn2191Lys)
c.306T>G (p.Asn102Lys)
c.168T>G (p.Asn56Lys)
c.6468T>G (p.Asn2156Lys)
Xg.154863084A>GCA519357777F8c.6573T>C (p.Asn2191=)
c.306T>C (p.Asn102=)
c.168T>C (p.Asn56=)
c.6468T>C (p.Asn2156=)
Xg.154863084A>TCA414906795F8c.6573T>A (p.Asn2191Lys)
c.306T>A (p.Asn102Lys)
c.168T>A (p.Asn56Lys)
c.6468T>A (p.Asn2156Lys)
Xg.154863085T>ACA414906796F8c.6572A>T (p.Asn2191Ile)
c.305A>T (p.Asn102Ile)
c.167A>T (p.Asn56Ile)
c.6467A>T (p.Asn2156Ile)
Xg.154863085T>CCA414906797F8c.6572A>G (p.Asn2191Ser)
c.305A>G (p.Asn102Ser)
c.167A>G (p.Asn56Ser)
c.6467A>G (p.Asn2156Ser)
Xg.154863085T>GCA414906800F8c.6572A>C (p.Asn2191Thr)
c.305A>C (p.Asn102Thr)
c.167A>C (p.Asn56Thr)
c.6467A>C (p.Asn2156Thr)
Xg.154863086T>ACA414906803F8c.6571A>T (p.Asn2191Tyr)
c.304A>T (p.Asn102Tyr)
c.166A>T (p.Asn56Tyr)
c.6466A>T (p.Asn2156Tyr)
Xg.154863086T>CCA414906804F8c.6571A>G (p.Asn2191Asp)
c.304A>G (p.Asn102Asp)
c.166A>G (p.Asn56Asp)
c.6466A>G (p.Asn2156Asp)
Xg.154863086T>GCA414906805F8c.6571A>C (p.Asn2191His)
c.304A>C (p.Asn102His)
c.166A>C (p.Asn56His)
c.6466A>C (p.Asn2156His)
Xg.154863087T>ACA414906807F8c.6570A>T (p.Leu2190Phe)
c.303A>T (p.Leu101Phe)
c.165A>T (p.Leu55Phe)
c.6465A>T (p.Leu2155Phe)
Xg.154863087T>CCA519357782F8c.6570A>G (p.Leu2190=)
c.303A>G (p.Leu101=)
c.165A>G (p.Leu55=)
c.6465A>G (p.Leu2155=)
Xg.154863087T>GCA414906809F8c.6570A>C (p.Leu2190Phe)
c.303A>C (p.Leu101Phe)
c.165A>C (p.Leu55Phe)
c.6465A>C (p.Leu2155Phe)
Xg.154863088A>CCA414906817F8c.6569T>G (p.Leu2190Ter)
c.302T>G (p.Leu101Ter)
c.164T>G (p.Leu55Ter)
c.6464T>G (p.Leu2155Ter)
Xg.154863088A>GCA414906828F8c.6569T>C (p.Leu2190Ser)
c.302T>C (p.Leu101Ser)
c.164T>C (p.Leu55Ser)
c.6464T>C (p.Leu2155Ser)
Xg.154863088A>TCA414906823F8c.6569T>A (p.Leu2190Ter)
c.302T>A (p.Leu101Ter)
c.164T>A (p.Leu55Ter)
c.6464T>A (p.Leu2155Ter)
Xg.154863089A>CCA414906833F8c.6568T>G (p.Leu2190Val)
c.301T>G (p.Leu101Val)
c.163T>G (p.Leu55Val)
c.6463T>G (p.Leu2155Val)
Xg.154863089A>GCA519357784F8c.6568T>C (p.Leu2190=)
c.301T>C (p.Leu101=)
c.163T>C (p.Leu55=)
c.6463T>C (p.Leu2155=)
Xg.154863089A>TCA414906837F8c.6568T>A (p.Leu2190Ile)
c.301T>A (p.Leu101Ile)
c.163T>A (p.Leu55Ile)
c.6463T>A (p.Leu2155Ile)
Xg.154863090A=CA2466815570F8c.6567T= (p.Asp2189=)
c.300T= (p.Asp100=)
c.162T= (p.Asp54=)
c.6462T= (p.Asp2154=)
Xg.154863090A>CCA414906855F8c.6567T>G (p.Asp2189Glu)
c.300T>G (p.Asp100Glu)
c.162T>G (p.Asp54Glu)
c.6462T>G (p.Asp2154Glu)
Xg.154863090A>GCA519357790F8c.6567T>C (p.Asp2189=)
c.300T>C (p.Asp100=)
c.162T>C (p.Asp54=)
c.6462T>C (p.Asp2154=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154863090A>TCA414906857F8c.6567T>A (p.Asp2189Glu)
c.300T>A (p.Asp100Glu)
c.162T>A (p.Asp54Glu)
c.6462T>A (p.Asp2154Glu)
Xg.154863091T>ACA414906863F8c.6566A>T (p.Asp2189Val)
c.299A>T (p.Asp100Val)
c.161A>T (p.Asp54Val)
c.6461A>T (p.Asp2154Val)
Xg.154863091T>CCA414906867F8c.6566A>G (p.Asp2189Gly)
c.299A>G (p.Asp100Gly)
c.161A>G (p.Asp54Gly)
c.6461A>G (p.Asp2154Gly)
Xg.154863091T>GCA414906871F8c.6566A>C (p.Asp2189Ala)
c.299A>C (p.Asp100Ala)
c.161A>C (p.Asp54Ala)
c.6461A>C (p.Asp2154Ala)
Xg.154863091_154863092delCA2695237164F8c.6565_6566del (p.Asp2189PhefsTer3)
c.298_299del (p.Asp100PhefsTer3)
c.160_161del (p.Asp54PhefsTer3)
c.6460_6461del (p.Asp2154PhefsTer3)
Xg.154863092C>ACA414906880F8c.6565G>T (p.Asp2189Tyr)
c.298G>T (p.Asp100Tyr)
c.160G>T (p.Asp54Tyr)
c.6460G>T (p.Asp2154Tyr)
Xg.154863092C>GCA414906881F8c.6565G>C (p.Asp2189His)
c.298G>C (p.Asp100His)
c.160G>C (p.Asp54His)
c.6460G>C (p.Asp2154His)
Xg.154863092C>TCA414906883F8c.6565G>A (p.Asp2189Asn)
c.298G>A (p.Asp100Asn)
c.160G>A (p.Asp54Asn)
c.6460G>A (p.Asp2154Asn)
Xg.154863093A=CA2466815572F8c.6564T= (p.Cys2188=)
c.297T= (p.Cys99=)
c.159T= (p.Cys53=)
c.6459T= (p.Cys2153=)
Xg.154863093A>CCA414906887F8c.6564T>G (p.Cys2188Trp)
c.297T>G (p.Cys99Trp)
c.159T>G (p.Cys53Trp)
c.6459T>G (p.Cys2153Trp)
Xg.154863093A>GCA519357794F8c.6564T>C (p.Cys2188=)
c.297T>C (p.Cys99=)
c.159T>C (p.Cys53=)
c.6459T>C (p.Cys2153=)
 dbSNP
Xg.154863093A>TCA414906893F8c.6564T>A (p.Cys2188Ter)
c.297T>A (p.Cys99Ter)
c.159T>A (p.Cys53Ter)
c.6459T>A (p.Cys2153Ter)
Xg.154863094C>ACA414906896F8c.6563G>T (p.Cys2188Phe)
c.296G>T (p.Cys99Phe)
c.158G>T (p.Cys53Phe)
c.6458G>T (p.Cys2153Phe)
Xg.154863094C=CA2466815574F8c.6563G= (p.Cys2188=)
c.296G= (p.Cys99=)
c.158G= (p.Cys53=)
c.6458G= (p.Cys2153=)
Xg.154863094C>GCA414906903F8c.6563G>C (p.Cys2188Ser)
c.296G>C (p.Cys99Ser)
c.158G>C (p.Cys53Ser)
c.6458G>C (p.Cys2153Ser)
Xg.154863094C>TCA414906899F8c.6563G>A (p.Cys2188Tyr)
c.296G>A (p.Cys99Tyr)
c.158G>A (p.Cys53Tyr)
c.6458G>A (p.Cys2153Tyr)
 dbSNP COSMIC COSMIC
Xg.154863095A>CCA414906919F8c.6562T>G (p.Cys2188Gly)
c.295T>G (p.Cys99Gly)
c.157T>G (p.Cys53Gly)
c.6457T>G (p.Cys2153Gly)
Xg.154863095A>GCA414906923F8c.6562T>C (p.Cys2188Arg)
c.295T>C (p.Cys99Arg)
c.157T>C (p.Cys53Arg)
c.6457T>C (p.Cys2153Arg)
Xg.154863095A>TCA414906925F8c.6562T>A (p.Cys2188Ser)
c.295T>A (p.Cys99Ser)
c.157T>A (p.Cys53Ser)
c.6457T>A (p.Cys2153Ser)
Xg.154863096G>ACA519357798F8c.6561C>T (p.Gly2187=)
c.294C>T (p.Gly98=)
c.156C>T (p.Gly52=)
c.6456C>T (p.Gly2152=)
Xg.154863096G>CCA519357800F8c.6561C>G (p.Gly2187=)
c.294C>G (p.Gly98=)
c.156C>G (p.Gly52=)
c.6456C>G (p.Gly2152=)
Xg.154863096G>TCA519357802F8c.6561C>A (p.Gly2187=)
c.294C>A (p.Gly98=)
c.156C>A (p.Gly52=)
c.6456C>A (p.Gly2152=)
Xg.154863097C>ACA414906931F8c.6560G>T (p.Gly2187Val)
c.293G>T (p.Gly98Val)
c.155G>T (p.Gly52Val)
c.6455G>T (p.Gly2152Val)
 gnomAD v4
Xg.154863097C=CA2466815576F8c.6560G= (p.Gly2187=)
c.293G= (p.Gly98=)
c.155G= (p.Gly52=)
c.6455G= (p.Gly2152=)
Xg.154863097C>GCA414906934F8c.6560G>C (p.Gly2187Ala)
c.293G>C (p.Gly98Ala)
c.155G>C (p.Gly52Ala)
c.6455G>C (p.Gly2152Ala)
Xg.154863097C>TCA414906936F8c.6560G>A (p.Gly2187Asp)
c.293G>A (p.Gly98Asp)
c.155G>A (p.Gly52Asp)
c.6455G>A (p.Gly2152Asp)
 dbSNP
Xg.154863098C>ACA414906941F8c.6559G>T (p.Gly2187Cys)
c.292G>T (p.Gly98Cys)
c.154G>T (p.Gly52Cys)
c.6454G>T (p.Gly2152Cys)
Xg.154863098C=CA2466815578F8c.6559G= (p.Gly2187=)
c.292G= (p.Gly98=)
c.154G= (p.Gly52=)
c.6454G= (p.Gly2152=)
Xg.154863098C>GCA414906947F8c.6559G>C (p.Gly2187Arg)
c.292G>C (p.Gly98Arg)
c.154G>C (p.Gly52Arg)
c.6454G>C (p.Gly2152Arg)
Xg.154863098C>TCA414906950F8c.6559G>A (p.Gly2187Ser)
c.292G>A (p.Gly98Ser)
c.154G>A (p.Gly52Ser)
c.6454G>A (p.Gly2152Ser)
 dbSNP
Xg.154863099C>ACA414906954F8c.6558G>T (p.Met2186Ile)
c.291G>T (p.Met97Ile)
c.153G>T (p.Met51Ile)
c.6453G>T (p.Met2151Ile)
Xg.154863099C=CA2466815579F8c.6558G= (p.Met2186=)
c.291G= (p.Met97=)
c.153G= (p.Met51=)
c.6453G= (p.Met2151=)
Xg.154863099C>GCA414906955F8c.6558G>C (p.Met2186Ile)
c.291G>C (p.Met97Ile)
c.153G>C (p.Met51Ile)
c.6453G>C (p.Met2151Ile)
Xg.154863099C>TCA414906953F8c.6558G>A (p.Met2186Ile)
c.291G>A (p.Met97Ile)
c.153G>A (p.Met51Ile)
c.6453G>A (p.Met2151Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.154863100A=CA2466815581F8c.6557T= (p.Met2186=)
c.290T= (p.Met97=)
c.152T= (p.Met51=)
c.6452T= (p.Met2151=)
Xg.154863100A>CCA414906967F8c.6557T>G (p.Met2186Arg)
c.290T>G (p.Met97Arg)
c.152T>G (p.Met51Arg)
c.6452T>G (p.Met2151Arg)
Xg.154863100A>GCA414906960F8c.6557T>C (p.Met2186Thr)
c.290T>C (p.Met97Thr)
c.152T>C (p.Met51Thr)
c.6452T>C (p.Met2151Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.154863100A>TCA414906964F8c.6557T>A (p.Met2186Lys)
c.290T>A (p.Met97Lys)
c.152T>A (p.Met51Lys)
c.6452T>A (p.Met2151Lys)
Xg.154863101T>ACA414906972F8c.6556A>T (p.Met2186Leu)
c.289A>T (p.Met97Leu)
c.151A>T (p.Met51Leu)
c.6451A>T (p.Met2151Leu)
Xg.154863101T>CCA414906975F8c.6556A>G (p.Met2186Val)
c.289A>G (p.Met97Val)
c.151A>G (p.Met51Val)
c.6451A>G (p.Met2151Val)
Xg.154863101T>GCA414906980F8c.6556A>C (p.Met2186Leu)
c.289A>C (p.Met97Leu)
c.151A>C (p.Met51Leu)
c.6451A>C (p.Met2151Leu)
Xg.154863102C>ACA414906983F8c.6555G>T (p.Leu2185Phe)
c.288G>T (p.Leu96Phe)
c.150G>T (p.Leu50Phe)
c.6450G>T (p.Leu2150Phe)
Xg.154863102C>GCA414906985F8c.6555G>C (p.Leu2185Phe)
c.288G>C (p.Leu96Phe)
c.150G>C (p.Leu50Phe)
c.6450G>C (p.Leu2150Phe)
Xg.154863102C>TCA519357812F8c.6555G>A (p.Leu2185=)
c.288G>A (p.Leu96=)
c.150G>A (p.Leu50=)
c.6450G>A (p.Leu2150=)
 gnomAD v4
Xg.154863103A=CA2466815585F8c.6554T= (p.Leu2185=)
c.287T= (p.Leu96=)
c.149T= (p.Leu50=)
c.6449T= (p.Leu2150=)
Xg.154863103A>CCA414906990F8c.6554T>G (p.Leu2185Trp)
c.287T>G (p.Leu96Trp)
c.149T>G (p.Leu50Trp)
c.6449T>G (p.Leu2150Trp)
Xg.154863103A>GCA255028F8c.6554T>C (p.Leu2185Ser)
c.287T>C (p.Leu96Ser)
c.149T>C (p.Leu50Ser)
c.6449T>C (p.Leu2150Ser)
 ClinVar dbSNP
Xg.154863103A>TCA414907001F8c.6554T>A (p.Leu2185Ter)
c.287T>A (p.Leu96Ter)
c.149T>A (p.Leu50Ter)
c.6449T>A (p.Leu2150Ter)
Xg.154863104A>CCA414907005F8c.6553T>G (p.Leu2185Val)
c.286T>G (p.Leu96Val)
c.148T>G (p.Leu50Val)
c.6448T>G (p.Leu2150Val)
Xg.154863104A>GCA519357816F8c.6553T>C (p.Leu2185=)
c.286T>C (p.Leu96=)
c.148T>C (p.Leu50=)
c.6448T>C (p.Leu2150=)
Xg.154863104A>TCA414907015F8c.6553T>A (p.Leu2185Met)
c.286T>A (p.Leu96Met)
c.148T>A (p.Leu50Met)
c.6448T>A (p.Leu2150Met)
Xg.154863105C>ACA414907022F8c.6552G>T (p.Glu2184Asp)
c.285G>T (p.Glu95Asp)
c.147G>T (p.Glu49Asp)
c.6447G>T (p.Glu2149Asp)
Xg.154863105C>GCA414907018F8c.6552G>C (p.Glu2184Asp)
c.285G>C (p.Glu95Asp)
c.147G>C (p.Glu49Asp)
c.6447G>C (p.Glu2149Asp)
Xg.154863105C>TCA519357819F8c.6552G>A (p.Glu2184=)
c.285G>A (p.Glu95=)
c.147G>A (p.Glu49=)
c.6447G>A (p.Glu2149=)
Xg.154863106T>ACA414907023F8c.6551A>T (p.Glu2184Val)
c.284A>T (p.Glu95Val)
c.146A>T (p.Glu49Val)
c.6446A>T (p.Glu2149Val)
Xg.154863106T>CCA414907024F8c.6551A>G (p.Glu2184Gly)
c.284A>G (p.Glu95Gly)
c.146A>G (p.Glu49Gly)
c.6446A>G (p.Glu2149Gly)
 ClinVar dbSNP
Xg.154863106T>GCA414907026F8c.6551A>C (p.Glu2184Ala)
c.284A>C (p.Glu95Ala)
c.146A>C (p.Glu49Ala)
c.6446A>C (p.Glu2149Ala)
 dbSNP
Xg.154863106T=CA2466815589F8c.6551A= (p.Glu2184=)
c.284A= (p.Glu95=)
c.146A= (p.Glu49=)
c.6446A= (p.Glu2149=)
Xg.154863107C>ACA414907031F8c.6550G>T (p.Glu2184Ter)
c.283G>T (p.Glu95Ter)
c.145G>T (p.Glu49Ter)
c.6445G>T (p.Glu2149Ter)
Xg.154863107C>GCA414907033F8c.6550G>C (p.Glu2184Gln)
c.283G>C (p.Glu95Gln)
c.145G>C (p.Glu49Gln)
c.6445G>C (p.Glu2149Gln)
 ClinVar dbSNP
Xg.154863107C>TCA414907036F8c.6550G>A (p.Glu2184Lys)
c.283G>A (p.Glu95Lys)
c.145G>A (p.Glu49Lys)
c.6445G>A (p.Glu2149Lys)
Xg.154863108delCA2695237165F8c.6550del (p.Glu2184SerfsTer2)
c.283del (p.Glu95SerfsTer2)
c.145del (p.Glu49SerfsTer2)
c.6445del (p.Glu2149SerfsTer2)
Xg.154863108C>ACA414907040F8c.6549G>T (p.Met2183Ile)
c.282G>T (p.Met94Ile)
c.144G>T (p.Met48Ile)
c.6444G>T (p.Met2148Ile)
Xg.154863108C>GCA414907044F8c.6549G>C (p.Met2183Ile)
c.282G>C (p.Met94Ile)
c.144G>C (p.Met48Ile)
c.6444G>C (p.Met2148Ile)
Xg.154863108C>TCA414907048F8c.6549G>A (p.Met2183Ile)
c.282G>A (p.Met94Ile)
c.144G>A (p.Met48Ile)
c.6444G>A (p.Met2148Ile)
Xg.154863109A=CA2466815591F8c.6548T= (p.Met2183=)
c.281T= (p.Met94=)
c.143T= (p.Met48=)
c.6443T= (p.Met2148=)
Xg.154863109A>CCA414907052F8c.6548T>G (p.Met2183Arg)
c.281T>G (p.Met94Arg)
c.143T>G (p.Met48Arg)
c.6443T>G (p.Met2148Arg)
 dbSNP
Xg.154863109A>GCA414907055F8c.6548T>C (p.Met2183Thr)
c.281T>C (p.Met94Thr)
c.143T>C (p.Met48Thr)
c.6443T>C (p.Met2148Thr)
Xg.154863109A>TCA414907059F8c.6548T>A (p.Met2183Lys)
c.281T>A (p.Met94Lys)
c.143T>A (p.Met48Lys)
c.6443T>A (p.Met2148Lys)
Xg.154863110T>ACA10567798F8c.6547A>T (p.Met2183Leu)
c.280A>T (p.Met94Leu)
c.142A>T (p.Met48Leu)
c.6442A>T (p.Met2148Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154863110T>CCA414907064F8c.6547A>G (p.Met2183Val)
c.280A>G (p.Met94Val)
c.142A>G (p.Met48Val)
c.6442A>G (p.Met2148Val)
 ClinVar dbSNP gnomAD v4
Xg.154863110T>GCA414907060F8c.6547A>C (p.Met2183Leu)
c.280A>C (p.Met94Leu)
c.142A>C (p.Met48Leu)
c.6442A>C (p.Met2148Leu)
Xg.154863110T=CA2466815594F8c.6547A= (p.Met2183=)
c.280A= (p.Met94=)
c.142A= (p.Met48=)
c.6442A= (p.Met2148=)
Xg.154863111G>ACA519357828F8c.6546C>T (p.Arg2182=)
c.279C>T (p.Arg93=)
c.141C>T (p.Arg47=)
c.6441C>T (p.Arg2147=)
Xg.154863111G>CCA519357830F8c.6546C>G (p.Arg2182=)
c.279C>G (p.Arg93=)
c.141C>G (p.Arg47=)
c.6441C>G (p.Arg2147=)
Xg.154863111G=CA2466815596F8c.6546C= (p.Arg2182=)
c.279C= (p.Arg93=)
c.141C= (p.Arg47=)
c.6441C= (p.Arg2147=)
Xg.154863111G>TCA10567799F8c.6546C>A (p.Arg2182=)
c.279C>A (p.Arg93=)
c.141C>A (p.Arg47=)
c.6441C>A (p.Arg2147=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154863112_154863113delCA2579752263F8c.6545_6546del (p.Arg2182HisfsTer7)
c.278_279del (p.Arg93HisfsTer7)
c.140_141del (p.Arg47HisfsTer7)
c.6440_6441del (p.Arg2147HisfsTer7)
Xg.154863112C>ACA414907082F8c.6545G>T (p.Arg2182Leu)
c.278G>T (p.Arg93Leu)
c.140G>T (p.Arg47Leu)
c.6440G>T (p.Arg2147Leu)
 dbSNP
Xg.154863112C=CA2466815599F8c.6545G= (p.Arg2182=)
c.278G= (p.Arg93=)
c.140G= (p.Arg47=)
c.6440G= (p.Arg2147=)
Xg.154863112C>GCA414907083F8c.6545G>C (p.Arg2182Pro)
c.278G>C (p.Arg93Pro)
c.140G>C (p.Arg47Pro)
c.6440G>C (p.Arg2147Pro)
Xg.154863112C>TCA255213F8c.6545G>A (p.Arg2182His)
c.278G>A (p.Arg93His)
c.140G>A (p.Arg47His)
c.6440G>A (p.Arg2147His)
 ClinVar dbSNP COSMIC COSMIC
Xg.154863113G>ACA255214F8c.6544C>T (p.Arg2182Cys)
c.277C>T (p.Arg93Cys)
c.139C>T (p.Arg47Cys)
c.6439C>T (p.Arg2147Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154863113G>CCA414907093F8c.6544C>G (p.Arg2182Gly)
c.277C>G (p.Arg93Gly)
c.139C>G (p.Arg47Gly)
c.6439C>G (p.Arg2147Gly)
Xg.154863113G=CA2466815607F8c.6544C= (p.Arg2182=)
c.277C= (p.Arg93=)
c.139C= (p.Arg47=)
c.6439C= (p.Arg2147=)
Xg.154863113G>TCA414907096F8c.6544C>A (p.Arg2182Ser)
c.277C>A (p.Arg93Ser)
c.139C>A (p.Arg47Ser)
c.6439C>A (p.Arg2147Ser)
Xg.154863114A>CCA519357836F8c.6543T>G (p.Leu2181=)
c.276T>G (p.Leu92=)
c.138T>G (p.Leu46=)
c.6438T>G (p.Leu2146=)
Xg.154863114A>GCA519357834F8c.6543T>C (p.Leu2181=)
c.276T>C (p.Leu92=)
c.138T>C (p.Leu46=)
c.6438T>C (p.Leu2146=)
Xg.154863114A>TCA519357835F8c.6543T>A (p.Leu2181=)
c.276T>A (p.Leu92=)
c.138T>A (p.Leu46=)
c.6438T>A (p.Leu2146=)
Xg.154863115A=CA2466815612F8c.6542T= (p.Leu2181=)
c.275T= (p.Leu92=)
c.137T= (p.Leu46=)
c.6437T= (p.Leu2146=)
Xg.154863115A>CCA414907097F8c.6542T>G (p.Leu2181Arg)
c.275T>G (p.Leu92Arg)
c.137T>G (p.Leu46Arg)
c.6437T>G (p.Leu2146Arg)
Xg.154863115A>GCA414907098F8c.6542T>C (p.Leu2181Pro)
c.275T>C (p.Leu92Pro)
c.137T>C (p.Leu46Pro)
c.6437T>C (p.Leu2146Pro)
 dbSNP
Xg.154863115A>TCA414907101F8c.6542T>A (p.Leu2181His)
c.275T>A (p.Leu92His)
c.137T>A (p.Leu46His)
c.6437T>A (p.Leu2146His)
Xg.154863116G>ACA414907104F8c.6541C>T (p.Leu2181Phe)
c.274C>T (p.Leu92Phe)
c.136C>T (p.Leu46Phe)
c.6436C>T (p.Leu2146Phe)
 dbSNP
Xg.154863116G>CCA414907105F8c.6541C>G (p.Leu2181Val)
c.274C>G (p.Leu92Val)
c.136C>G (p.Leu46Val)
c.6436C>G (p.Leu2146Val)
Xg.154863116G=CA2466815615F8c.6541C= (p.Leu2181=)
c.274C= (p.Leu92=)
c.136C= (p.Leu46=)
c.6436C= (p.Leu2146=)
Xg.154863116G>TCA414907106F8c.6541C>A (p.Leu2181Ile)
c.274C>A (p.Leu92Ile)
c.136C>A (p.Leu46Ile)
c.6436C>A (p.Leu2146Ile)
Xg.154863117A>CCA519357840F8c.6540T>G (p.Thr2180=)
c.273T>G (p.Thr91=)
c.135T>G (p.Thr45=)
c.6435T>G (p.Thr2145=)
Xg.154863117A>GCA519357841F8c.6540T>C (p.Thr2180=)
c.273T>C (p.Thr91=)
c.135T>C (p.Thr45=)
c.6435T>C (p.Thr2145=)
Xg.154863117A>TCA519357843F8c.6540T>A (p.Thr2180=)
c.273T>A (p.Thr91=)
c.135T>A (p.Thr45=)
c.6435T>A (p.Thr2145=)
Xg.154863118G>ACA414907109F8c.6539C>T (p.Thr2180Ile)
c.272C>T (p.Thr91Ile)
c.134C>T (p.Thr45Ile)
c.6434C>T (p.Thr2145Ile)
 dbSNP
Xg.154863118G>CCA414907122F8c.6539C>G (p.Thr2180Ser)
c.272C>G (p.Thr91Ser)
c.134C>G (p.Thr45Ser)
c.6434C>G (p.Thr2145Ser)
Xg.154863118G=CA2466815617F8c.6539C= (p.Thr2180=)
c.272C= (p.Thr91=)
c.134C= (p.Thr45=)
c.6434C= (p.Thr2145=)
Xg.154863118G>TCA414907111F8c.6539C>A (p.Thr2180Asn)
c.272C>A (p.Thr91Asn)
c.134C>A (p.Thr45Asn)
c.6434C>A (p.Thr2145Asn)
Xg.154863119T>ACA414907126F8c.6538A>T (p.Thr2180Ser)
c.271A>T (p.Thr91Ser)
c.133A>T (p.Thr45Ser)
c.6433A>T (p.Thr2145Ser)
Xg.154863119T>CCA414907146F8c.6538A>G (p.Thr2180Ala)
c.271A>G (p.Thr91Ala)
c.133A>G (p.Thr45Ala)
c.6433A>G (p.Thr2145Ala)
Xg.154863119T>GCA414907147F8c.6538A>C (p.Thr2180Pro)
c.271A>C (p.Thr91Pro)
c.133A>C (p.Thr45Pro)
c.6433A>C (p.Thr2145Pro)
Xg.154863120G>ACA519357848F8c.6537C>T (p.Ser2179=)
c.270C>T (p.Ser90=)
c.132C>T (p.Ser44=)
c.6432C>T (p.Ser2144=)
Xg.154863120G>CCA414907148F8c.6537C>G (p.Ser2179Arg)
c.270C>G (p.Ser90Arg)
c.132C>G (p.Ser44Arg)
c.6432C>G (p.Ser2144Arg)
Xg.154863120G>TCA414907150F8c.6537C>A (p.Ser2179Arg)
c.270C>A (p.Ser90Arg)
c.132C>A (p.Ser44Arg)
c.6432C>A (p.Ser2144Arg)
Xg.154863121delCA2695237166F8c.6536del (p.Ser2179ThrfsTer7)
c.269del (p.Ser90ThrfsTer7)
c.131del (p.Ser44ThrfsTer7)
c.6431del (p.Ser2144ThrfsTer7)
Xg.154863121C>ACA414907163F8c.6536G>T (p.Ser2179Ile)
c.269G>T (p.Ser90Ile)
c.131G>T (p.Ser44Ile)
c.6431G>T (p.Ser2144Ile)
Xg.154863121C=CA2466815620F8c.6536G= (p.Ser2179=)
c.269G= (p.Ser90=)
c.131G= (p.Ser44=)
c.6431G= (p.Ser2144=)
Xg.154863121C>GCA414907166F8c.6536G>C (p.Ser2179Thr)
c.269G>C (p.Ser90Thr)
c.131G>C (p.Ser44Thr)
c.6431G>C (p.Ser2144Thr)
Xg.154863121C>TCA414907171F8c.6536G>A (p.Ser2179Asn)
c.269G>A (p.Ser90Asn)
c.131G>A (p.Ser44Asn)
c.6431G>A (p.Ser2144Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.154863122T>ACA414907175F8c.6535A>T (p.Ser2179Cys)
c.268A>T (p.Ser90Cys)
c.130A>T (p.Ser44Cys)
c.6430A>T (p.Ser2144Cys)
Xg.154863122T>CCA414907176F8c.6535A>G (p.Ser2179Gly)
c.268A>G (p.Ser90Gly)
c.130A>G (p.Ser44Gly)
c.6430A>G (p.Ser2144Gly)
Xg.154863122T>GCA414907178F8c.6535A>C (p.Ser2179Arg)
c.268A>C (p.Ser90Arg)
c.130A>C (p.Ser44Arg)
c.6430A>C (p.Ser2144Arg)
Xg.154863123G>ACA519357854F8c.6534C>T (p.Arg2178=)
c.267C>T (p.Arg89=)
c.129C>T (p.Arg43=)
c.6429C>T (p.Arg2143=)
Xg.154863123G>CCA519357856F8c.6534C>G (p.Arg2178=)
c.267C>G (p.Arg89=)
c.129C>G (p.Arg43=)
c.6429C>G (p.Arg2143=)
Xg.154863123G>TCA519357858F8c.6534C>A (p.Arg2178=)
c.267C>A (p.Arg89=)
c.129C>A (p.Arg43=)
c.6429C>A (p.Arg2143=)
Xg.154863124C>ACA255207F8c.6533G>T (p.Arg2178Leu)
c.266G>T (p.Arg89Leu)
c.128G>T (p.Arg43Leu)
c.6428G>T (p.Arg2143Leu)
 ClinVar dbSNP
Xg.154863124C=CA2466815624F8c.6533G= (p.Arg2178=)
c.266G= (p.Arg89=)
c.128G= (p.Arg43=)
c.6428G= (p.Arg2143=)
Xg.154863124C>GCA414907187F8c.6533G>C (p.Arg2178Pro)
c.266G>C (p.Arg89Pro)
c.128G>C (p.Arg43Pro)
c.6428G>C (p.Arg2143Pro)
Xg.154863124C>TCA255212F8c.6533G>A (p.Arg2178His)
c.266G>A (p.Arg89His)
c.128G>A (p.Arg43His)
c.6428G>A (p.Arg2143His)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC
Xg.154863125G>ACA255211F8c.6532C>T (p.Arg2178Cys)
c.265C>T (p.Arg89Cys)
c.127C>T (p.Arg43Cys)
c.6427C>T (p.Arg2143Cys)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC
Xg.154863125G>CCA414907205F8c.6532C>G (p.Arg2178Gly)
c.265C>G (p.Arg89Gly)
c.127C>G (p.Arg43Gly)
c.6427C>G (p.Arg2143Gly)
Xg.154863125G=CA2466815631F8c.6532C= (p.Arg2178=)
c.265C= (p.Arg89=)
c.127C= (p.Arg43=)
c.6427C= (p.Arg2143=)
Xg.154863125G>TCA414907212F8c.6532C>A (p.Arg2178Ser)
c.265C>A (p.Arg89Ser)
c.127C>A (p.Arg43Ser)
c.6427C>A (p.Arg2143Ser)
Xg.154863126A>CCA414907217F8c.6531T>G (p.Ile2177Met)
c.264T>G (p.Ile88Met)
c.126T>G (p.Ile42Met)
c.6426T>G (p.Ile2142Met)
Xg.154863126A>GCA519357862F8c.6531T>C (p.Ile2177=)
c.264T>C (p.Ile88=)
c.126T>C (p.Ile42=)
c.6426T>C (p.Ile2142=)
Xg.154863126A>TCA519357863F8c.6531T>A (p.Ile2177=)
c.264T>A (p.Ile88=)
c.126T>A (p.Ile42=)
c.6426T>A (p.Ile2142=)
Xg.154863127A>CCA414907225F8c.6530T>G (p.Ile2177Ser)
c.263T>G (p.Ile88Ser)
c.125T>G (p.Ile42Ser)
c.6425T>G (p.Ile2142Ser)
Xg.154863127A>GCA414907223F8c.6530T>C (p.Ile2177Thr)
c.263T>C (p.Ile88Thr)
c.125T>C (p.Ile42Thr)
c.6425T>C (p.Ile2142Thr)
Xg.154863127A>TCA414907228F8c.6530T>A (p.Ile2177Asn)
c.263T>A (p.Ile88Asn)
c.125T>A (p.Ile42Asn)
c.6425T>A (p.Ile2142Asn)
Xg.154863128T>ACA414907232F8c.6529A>T (p.Ile2177Phe)
c.262A>T (p.Ile88Phe)
c.124A>T (p.Ile42Phe)
c.6424A>T (p.Ile2142Phe)
Xg.154863128T>CCA414907234F8c.6529A>G (p.Ile2177Val)
c.262A>G (p.Ile88Val)
c.124A>G (p.Ile42Val)
c.6424A>G (p.Ile2142Val)
Xg.154863128T>GCA414907236F8c.6529A>C (p.Ile2177Leu)
c.262A>C (p.Ile88Leu)
c.124A>C (p.Ile42Leu)
c.6424A>C (p.Ile2142Leu)
Xg.154863129G>ACA519357867F8c.6528C>T (p.Ser2176=)
c.261C>T (p.Ser87=)
c.123C>T (p.Ser41=)
c.6423C>T (p.Ser2141=)
 COSMIC COSMIC
Xg.154863129G>CCA414907237F8c.6528C>G (p.Ser2176Arg)
c.261C>G (p.Ser87Arg)
c.123C>G (p.Ser41Arg)
c.6423C>G (p.Ser2141Arg)
Xg.154863129G>TCA414907238F8c.6528C>A (p.Ser2176Arg)
c.261C>A (p.Ser87Arg)
c.123C>A (p.Ser41Arg)
c.6423C>A (p.Ser2141Arg)
Xg.154863130C>ACA414907242F8c.6527G>T (p.Ser2176Ile)
c.260G>T (p.Ser87Ile)
c.122G>T (p.Ser41Ile)
c.6422G>T (p.Ser2141Ile)
Xg.154863130C>GCA414907244F8c.6527G>C (p.Ser2176Thr)
c.260G>C (p.Ser87Thr)
c.122G>C (p.Ser41Thr)
c.6422G>C (p.Ser2141Thr)
Xg.154863130C>TCA414907247F8c.6527G>A (p.Ser2176Asn)
c.260G>A (p.Ser87Asn)
c.122G>A (p.Ser41Asn)
c.6422G>A (p.Ser2141Asn)
Xg.154863131T>ACA414907251F8c.6526A>T (p.Ser2176Cys)
c.259A>T (p.Ser87Cys)
c.121A>T (p.Ser41Cys)
c.6421A>T (p.Ser2141Cys)
Xg.154863131T>CCA414907252F8c.6526A>G (p.Ser2176Gly)
c.259A>G (p.Ser87Gly)
c.121A>G (p.Ser41Gly)
c.6421A>G (p.Ser2141Gly)
Xg.154863131T>GCA414907253F8c.6526A>C (p.Ser2176Arg)
c.259A>C (p.Ser87Arg)
c.121A>C (p.Ser41Arg)
c.6421A>C (p.Ser2141Arg)
Xg.154863131_154863134delinsTATACA2466815634F8c.6523_6526delinsTATA (p.Tyr2175=)
c.256_259delinsTATA (p.Tyr86=)
c.118_121delinsTATA (p.Tyr40=)
c.6418_6421delinsTATA (p.Tyr2140=)
Xg.154863132A>CCA414907265F8c.6525T>G (p.Tyr2175Ter)
c.258T>G (p.Tyr86Ter)
c.120T>G (p.Tyr40Ter)
c.6420T>G (p.Tyr2140Ter)
Xg.154863132A>GCA519357869F8c.6525T>C (p.Tyr2175=)
c.258T>C (p.Tyr86=)
c.120T>C (p.Tyr40=)
c.6420T>C (p.Tyr2140=)
Xg.154863132A>TCA414907257F8c.6525T>A (p.Tyr2175Ter)
c.258T>A (p.Tyr86Ter)
c.120T>A (p.Tyr40Ter)
c.6420T>A (p.Tyr2140Ter)
Xg.154863134_154863136delCA1139667895F8c.6523_6525del (p.Tyr2175del)
c.256_258del (p.Tyr86del)
c.118_120del (p.Tyr40del)
c.6418_6420del (p.Tyr2140del)
 ClinVar dbSNP
Xg.154863133T>ACA414907269F8c.6524A>T (p.Tyr2175Phe)
c.257A>T (p.Tyr86Phe)
c.119A>T (p.Tyr40Phe)
c.6419A>T (p.Tyr2140Phe)
Xg.154863133T>CCA414907272F8c.6524A>G (p.Tyr2175Cys)
c.257A>G (p.Tyr86Cys)
c.119A>G (p.Tyr40Cys)
c.6419A>G (p.Tyr2140Cys)
Xg.154863133T>GCA414907276F8c.6524A>C (p.Tyr2175Ser)
c.257A>C (p.Tyr86Ser)
c.119A>C (p.Tyr40Ser)
c.6419A>C (p.Tyr2140Ser)
Xg.154863134A>CCA414907287F8c.6523T>G (p.Tyr2175Asp)
c.256T>G (p.Tyr86Asp)
c.118T>G (p.Tyr40Asp)
c.6418T>G (p.Tyr2140Asp)
Xg.154863134A>GCA414907290F8c.6523T>C (p.Tyr2175His)
c.256T>C (p.Tyr86His)
c.118T>C (p.Tyr40His)
c.6418T>C (p.Tyr2140His)
Xg.154863134A>TCA414907293F8c.6523T>A (p.Tyr2175Asn)
c.256T>A (p.Tyr86Asn)
c.118T>A (p.Tyr40Asn)
c.6418T>A (p.Tyr2140Asn)
Xg.154863135delCA2695237167F8c.6523del (p.Tyr2175IlefsTer11)
c.256del (p.Tyr86IlefsTer11)
c.118del (p.Tyr40IlefsTer11)
c.6418del (p.Tyr2140IlefsTer11)
Xg.154863135A>CCA414907300F8c.6522T>G (p.His2174Gln)
c.255T>G (p.His85Gln)
c.117T>G (p.His39Gln)
c.6417T>G (p.His2139Gln)
Xg.154863135A>GCA519357872F8c.6522T>C (p.His2174=)
c.255T>C (p.His85=)
c.117T>C (p.His39=)
c.6417T>C (p.His2139=)
Xg.154863135A>TCA414907304F8c.6522T>A (p.His2174Gln)
c.255T>A (p.His85Gln)
c.117T>A (p.His39Gln)
c.6417T>A (p.His2139Gln)
Xg.154863136T>ACA414907312F8c.6521A>T (p.His2174Leu)
c.254A>T (p.His85Leu)
c.116A>T (p.His39Leu)
c.6416A>T (p.His2139Leu)
Xg.154863136T>CCA414907313F8c.6521A>G (p.His2174Arg)
c.254A>G (p.His85Arg)
c.116A>G (p.His39Arg)
c.6416A>G (p.His2139Arg)
 COSMIC COSMIC
Xg.154863136T>GCA414907315F8c.6521A>C (p.His2174Pro)
c.254A>C (p.His85Pro)
c.116A>C (p.His39Pro)
c.6416A>C (p.His2139Pro)
Xg.154863137G>ACA414907326F8c.6520C>T (p.His2174Tyr)
c.253C>T (p.His85Tyr)
c.115C>T (p.His39Tyr)
c.6415C>T (p.His2139Tyr)
Xg.154863137G>CCA414907323F8c.6520C>G (p.His2174Asp)
c.253C>G (p.His85Asp)
c.115C>G (p.His39Asp)
c.6415C>G (p.His2139Asp)
Xg.154863137G>TCA414907318F8c.6520C>A (p.His2174Asn)
c.253C>A (p.His85Asn)
c.115C>A (p.His39Asn)
c.6415C>A (p.His2139Asn)
Xg.154863138A>CCA519357876F8c.6519T>G (p.Thr2173=)
c.252T>G (p.Thr84=)
c.114T>G (p.Thr38=)
c.6414T>G (p.Thr2138=)
Xg.154863138A>GCA519357877F8c.6519T>C (p.Thr2173=)
c.252T>C (p.Thr84=)
c.114T>C (p.Thr38=)
c.6414T>C (p.Thr2138=)
 COSMIC COSMIC
Xg.154863138A>TCA519357878F8c.6519T>A (p.Thr2173=)
c.252T>A (p.Thr84=)
c.114T>A (p.Thr38=)
c.6414T>A (p.Thr2138=)
Xg.154863138_154863140dupCA2695237168F8c.6517_6519dup (p.Thr2173_His2174insThr)
c.250_252dup (p.Thr84_His85insThr)
c.112_114dup (p.Thr38_His39insThr)
c.6412_6414dup (p.Thr2138_His2139insThr)
Xg.154863139G>ACA255210F8c.6518C>T (p.Thr2173Ile)
c.251C>T (p.Thr84Ile)
c.113C>T (p.Thr38Ile)
c.6413C>T (p.Thr2138Ile)
 ClinVar dbSNP
Xg.154863139G>CCA414907336F8c.6518C>G (p.Thr2173Ser)
c.251C>G (p.Thr84Ser)
c.113C>G (p.Thr38Ser)
c.6413C>G (p.Thr2138Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.154863139G=CA2466815638F8c.6518C= (p.Thr2173=)
c.251C= (p.Thr84=)
c.113C= (p.Thr38=)
c.6413C= (p.Thr2138=)
Xg.154863139G>TCA414907339F8c.6518C>A (p.Thr2173Asn)
c.251C>A (p.Thr84Asn)
c.113C>A (p.Thr38Asn)
c.6413C>A (p.Thr2138Asn)
 dbSNP
Xg.154863139_154863141delinsGTTCA2466815640F8c.6516_6518delinsAAC (p.Pro2172=)
c.249_251delinsAAC (p.Pro83=)
c.111_113delinsAAC (p.Pro37=)
c.6411_6413delinsAAC (p.Pro2137=)

Number of alleles fetched