Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626497G>ACA180400RP1c.2615G>A (p.Arg872His)
c.787+4209G>A (n.787+4209G>A)
c.2636G>A (p.Arg879His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626497G>CCA370994239RP1c.2615G>C (p.Arg872Pro)
c.787+4209G>C (n.787+4209G>C)
c.2636G>C (p.Arg879Pro)
8g.54626497G=CA1785188348RP1c.2615G= (p.Arg872=)
c.787+4209G= (n.787+4209G=)
c.2636G= (p.Arg879=)
8g.54626497G>TCA370994240RP1c.2615G>T (p.Arg872Leu)
c.787+4209G>T (n.787+4209G>T)
c.2636G>T (p.Arg879Leu)
gnomAD v4
8g.54626497_54626505dupCA1785188347RP1c.2615_2623dup (p.Gly874_Asp875insGlyLysGly)
c.787+4209_787+4217dup (n.787+4209_787+4217dup)
c.2636_2644dup (p.Gly881_Asp882insGlyLysGly)
dbSNP
8g.54626498T>ACA461098990RP1c.2616T>A (p.Arg872=)
c.787+4210T>A (n.787+4210T>A)
c.2637T>A (p.Arg879=)
8g.54626498T>CCA461098991RP1c.2616T>C (p.Arg872=)
c.787+4210T>C (n.787+4210T>C)
c.2637T>C (p.Arg879=)
dbSNP gnomAD v4
8g.54626498T>GCA461098992RP1c.2616T>G (p.Arg872=)
c.787+4210T>G (n.787+4210T>G)
c.2637T>G (p.Arg879=)
8g.54626498T=CA1785188349RP1c.2616T= (p.Arg872=)
c.787+4210T= (n.787+4210T=)
c.2637T= (p.Arg879=)
8g.54626499A=CA1785188350RP1c.2617A= (p.Lys873=)
c.787+4211A= (n.787+4211A=)
c.2638A= (p.Lys880=)
8g.54626499A>CCA370994241RP1c.2617A>C (p.Lys873Gln)
c.787+4211A>C (n.787+4211A>C)
c.2638A>C (p.Lys880Gln)
8g.54626499A>GCA370994242RP1c.2617A>G (p.Lys873Glu)
c.787+4211A>G (n.787+4211A>G)
c.2638A>G (p.Lys880Glu)
dbSNP gnomAD v4
8g.54626499A>TCA370994243RP1c.2617A>T (p.Lys873Ter)
c.787+4211A>T (n.787+4211A>T)
c.2638A>T (p.Lys880Ter)
8g.54626501dupCA2687301839RP1c.2619dup (p.Gly874ArgfsTer3)
c.787+4213dup (n.787+4213dup)
c.2640dup (p.Gly881ArgfsTer3)
gnomAD v4
8g.54626501delCA2579168461RP1c.2619del (p.Asp875IlefsTer3)
c.787+4213del (n.787+4213del)
c.2640del (p.Asp882IlefsTer3)
8g.54626500A>CCA370994244RP1c.2618A>C (p.Lys873Thr)
c.787+4212A>C (n.787+4212A>C)
c.2639A>C (p.Lys880Thr)
8g.54626500A>GCA370994245RP1c.2618A>G (p.Lys873Arg)
c.787+4212A>G (n.787+4212A>G)
c.2639A>G (p.Lys880Arg)
8g.54626500A>TCA370994246RP1c.2618A>T (p.Lys873Ile)
c.787+4212A>T (n.787+4212A>T)
c.2639A>T (p.Lys880Ile)
8g.54626501A=CA1785188351RP1c.2619A= (p.Lys873=)
c.787+4213A= (n.787+4213A=)
c.2640A= (p.Lys880=)
8g.54626501A>CCA370994248RP1c.2619A>C (p.Lys873Asn)
c.787+4213A>C (n.787+4213A>C)
c.2640A>C (p.Lys880Asn)
8g.54626501A>GCA461098993RP1c.2619A>G (p.Lys873=)
c.787+4213A>G (n.787+4213A>G)
c.2640A>G (p.Lys880=)
8g.54626501A>TCA370994247RP1c.2619A>T (p.Lys873Asn)
c.787+4213A>T (n.787+4213A>T)
c.2640A>T (p.Lys880Asn)
dbSNP
8g.54626502G>ACA370994249RP1c.2620G>A (p.Gly874Arg)
c.787+4214G>A (n.787+4214G>A)
c.2641G>A (p.Gly881Arg)
8g.54626502G>CCA370994250RP1c.2620G>C (p.Gly874Arg)
c.787+4214G>C (n.787+4214G>C)
c.2641G>C (p.Gly881Arg)
8g.54626502G>TCA370994251RP1c.2620G>T (p.Gly874Trp)
c.787+4214G>T (n.787+4214G>T)
c.2641G>T (p.Gly881Trp)
8g.54626505delCA645560573RP1c.2623del (p.Asp875IlefsTer3)
c.787+4217del (n.787+4217del)
c.2644del (p.Asp882IlefsTer3)
COSMIC
8g.54626503G>ACA370994252RP1c.2621G>A (p.Gly874Glu)
c.787+4215G>A (n.787+4215G>A)
c.2642G>A (p.Gly881Glu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54626503G>CCA370994253RP1c.2621G>C (p.Gly874Ala)
c.787+4215G>C (n.787+4215G>C)
c.2642G>C (p.Gly881Ala)
gnomAD v4
8g.54626503G=CA1785188352RP1c.2621G= (p.Gly874=)
c.787+4215G= (n.787+4215G=)
c.2642G= (p.Gly881=)
8g.54626503G>TCA370994254RP1c.2621G>T (p.Gly874Val)
c.787+4215G>T (n.787+4215G>T)
c.2642G>T (p.Gly881Val)
8g.54626504G>ACA4751565RP1c.2622G>A (p.Gly874=)
c.787+4216G>A (n.787+4216G>A)
c.2643G>A (p.Gly881=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626504G>CCA461098995RP1c.2622G>C (p.Gly874=)
c.787+4216G>C (n.787+4216G>C)
c.2643G>C (p.Gly881=)
gnomAD v4
8g.54626504G=CA1785188353RP1c.2622G= (p.Gly874=)
c.787+4216G= (n.787+4216G=)
c.2643G= (p.Gly881=)
8g.54626504G>TCA461098994RP1c.2622G>T (p.Gly874=)
c.787+4216G>T (n.787+4216G>T)
c.2643G>T (p.Gly881=)
8g.54626505G>ACA4751566RP1c.2623G>A (p.Asp875Asn)
c.787+4217G>A (n.787+4217G>A)
c.2644G>A (p.Asp882Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54626505G>CCA370994255RP1c.2623G>C (p.Asp875His)
c.787+4217G>C (n.787+4217G>C)
c.2644G>C (p.Asp882His)
8g.54626505G=CA1785188354RP1c.2623G= (p.Asp875=)
c.787+4217G= (n.787+4217G=)
c.2644G= (p.Asp882=)
8g.54626505G>TCA370994256RP1c.2623G>T (p.Asp875Tyr)
c.787+4217G>T (n.787+4217G>T)
c.2644G>T (p.Asp882Tyr)
8g.54626506A=CA1785188355RP1c.2624A= (p.Asp875=)
c.787+4218A= (n.787+4218A=)
c.2645A= (p.Asp882=)
8g.54626506A>CCA370994257RP1c.2624A>C (p.Asp875Ala)
c.787+4218A>C (n.787+4218A>C)
c.2645A>C (p.Asp882Ala)
8g.54626506A>GCA370994258RP1c.2624A>G (p.Asp875Gly)
c.787+4218A>G (n.787+4218A>G)
c.2645A>G (p.Asp882Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54626506A>TCA370994259RP1c.2624A>T (p.Asp875Val)
c.787+4218A>T (n.787+4218A>T)
c.2645A>T (p.Asp882Val)
dbSNP gnomAD v2 gnomAD v4
8g.54626507T>ACA370994260RP1c.2625T>A (p.Asp875Glu)
c.787+4219T>A (n.787+4219T>A)
c.2646T>A (p.Asp882Glu)
8g.54626507T>CCA461098996RP1c.2625T>C (p.Asp875=)
c.787+4219T>C (n.787+4219T>C)
c.2646T>C (p.Asp882=)
8g.54626507T>GCA370994261RP1c.2625T>G (p.Asp875Glu)
c.787+4219T>G (n.787+4219T>G)
c.2646T>G (p.Asp882Glu)
8g.54626508A>CCA370994262RP1c.2626A>C (p.Lys876Gln)
c.787+4220A>C (n.787+4220A>C)
c.2647A>C (p.Lys883Gln)
8g.54626508A>GCA370994264RP1c.2626A>G (p.Lys876Glu)
c.787+4220A>G (n.787+4220A>G)
c.2647A>G (p.Lys883Glu)
8g.54626508A>TCA370994263RP1c.2626A>T (p.Lys876Ter)
c.787+4220A>T (n.787+4220A>T)
c.2647A>T (p.Lys883Ter)
ClinVar
8g.54626509A=CA1785188356RP1c.2627A= (p.Lys876=)
c.787+4221A= (n.787+4221A=)
c.2648A= (p.Lys883=)
8g.54626509A>CCA4751567RP1c.2627A>C (p.Lys876Thr)
c.787+4221A>C (n.787+4221A>C)
c.2648A>C (p.Lys883Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched