Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197090087_197090197delCA2747239567ASPMn.3116+1_3117-1del
c.9829+1_9830-1del
c.10051+1_10052-1del
c.9805+1_9806-1del
c.5074+1_5075-1del
c.2824+1_2825-1del
c.3787+1_3788-1del
1g.197090162A=CA1217925088ASPMn.3116+34T=
c.9829+34T= (n.9829+34T=)
c.10051+34T= (n.10051+34T=)
c.9805+34T= (n.9805+34T=)
c.5074+34T= (n.5074+34T=)
c.2824+34T= (n.2824+34T=)
c.3787+34T= (n.3787+34T=)
1g.197090162A>CCA1308856ASPMn.3116+34T>G
c.9829+34T>G (n.9829+34T>G)
c.10051+34T>G (n.10051+34T>G)
c.9805+34T>G (n.9805+34T>G)
c.5074+34T>G (n.5074+34T>G)
c.2824+34T>G (n.2824+34T>G)
c.3787+34T>G (n.3787+34T>G)
 dbSNP ExAC gnomAD v2
1g.197090163C=CA1217925090ASPMn.3116+33G=
c.9829+33G= (n.9829+33G=)
c.10051+33G= (n.10051+33G=)
c.9805+33G= (n.9805+33G=)
c.5074+33G= (n.5074+33G=)
c.2824+33G= (n.2824+33G=)
c.3787+33G= (n.3787+33G=)
1g.197090163C>GCA2649660618ASPMn.3116+33G>C
c.9829+33G>C (n.9829+33G>C)
c.10051+33G>C (n.10051+33G>C)
c.9805+33G>C (n.9805+33G>C)
c.5074+33G>C (n.5074+33G>C)
c.2824+33G>C (n.2824+33G>C)
c.3787+33G>C (n.3787+33G>C)
 gnomAD v4
1g.197090163C>TCA1308857ASPMn.3116+33G>A
c.9829+33G>A (n.9829+33G>A)
c.10051+33G>A (n.10051+33G>A)
c.9805+33G>A (n.9805+33G>A)
c.5074+33G>A (n.5074+33G>A)
c.2824+33G>A (n.2824+33G>A)
c.3787+33G>A (n.3787+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090163_197090164insTTGTCA528534975ASPMn.3116+32_3116+33insACAA
c.9829+32_9829+33insACAA (n.9829+32_9829+33insACAA)
c.10051+32_10051+33insACAA (n.10051+32_10051+33insACAA)
c.9805+32_9805+33insACAA (n.9805+32_9805+33insACAA)
c.5074+32_5074+33insACAA (n.5074+32_5074+33insACAA)
c.2824+32_2824+33insACAA (n.2824+32_2824+33insACAA)
c.3787+32_3787+33insACAA (n.3787+32_3787+33insACAA)
 gnomAD v2
1g.197090164A=CA1217925093ASPMn.3116+32T=
c.9829+32T= (n.9829+32T=)
c.10051+32T= (n.10051+32T=)
c.9805+32T= (n.9805+32T=)
c.5074+32T= (n.5074+32T=)
c.2824+32T= (n.2824+32T=)
c.3787+32T= (n.3787+32T=)
1g.197090164A>CCA2649660619ASPMn.3116+32T>G
c.9829+32T>G (n.9829+32T>G)
c.10051+32T>G (n.10051+32T>G)
c.9805+32T>G (n.9805+32T>G)
c.5074+32T>G (n.5074+32T>G)
c.2824+32T>G (n.2824+32T>G)
c.3787+32T>G (n.3787+32T>G)
 gnomAD v4
1g.197090164A>GCA528534976ASPMn.3116+32T>C
c.9829+32T>C (n.9829+32T>C)
c.10051+32T>C (n.10051+32T>C)
c.9805+32T>C (n.9805+32T>C)
c.5074+32T>C (n.5074+32T>C)
c.2824+32T>C (n.2824+32T>C)
c.3787+32T>C (n.3787+32T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090165T>ACA2649660620ASPMn.3116+31A>T
c.9829+31A>T (n.9829+31A>T)
c.10051+31A>T (n.10051+31A>T)
c.9805+31A>T (n.9805+31A>T)
c.5074+31A>T (n.5074+31A>T)
c.2824+31A>T (n.2824+31A>T)
c.3787+31A>T (n.3787+31A>T)
 gnomAD v4
1g.197090165_197090166insGGAAGTCA1308858ASPMn.3116+31_3116+32insCTTCCA
c.9829+31_9829+32insCTTCCA (n.9829+31_9829+32insCTTCCA)
c.10051+31_10051+32insCTTCCA (n.10051+31_10051+32insCTTCCA)
c.9805+31_9805+32insCTTCCA (n.9805+31_9805+32insCTTCCA)
c.5074+31_5074+32insCTTCCA (n.5074+31_5074+32insCTTCCA)
c.2824+31_2824+32insCTTCCA (n.2824+31_2824+32insCTTCCA)
c.3787+31_3787+32insCTTCCA (n.3787+31_3787+32insCTTCCA)
 dbSNP ExAC
1g.197090166C>ACA2649660621ASPMn.3116+30G>T
c.9829+30G>T (n.9829+30G>T)
c.10051+30G>T (n.10051+30G>T)
c.9805+30G>T (n.9805+30G>T)
c.5074+30G>T (n.5074+30G>T)
c.2824+30G>T (n.2824+30G>T)
c.3787+30G>T (n.3787+30G>T)
 gnomAD v4
1g.197090166C>TCA2649660622ASPMn.3116+30G>A
c.9829+30G>A (n.9829+30G>A)
c.10051+30G>A (n.10051+30G>A)
c.9805+30G>A (n.9805+30G>A)
c.5074+30G>A (n.5074+30G>A)
c.2824+30G>A (n.2824+30G>A)
c.3787+30G>A (n.3787+30G>A)
 gnomAD v4
1g.197090167A=CA1217925098ASPMn.3116+29T=
c.9829+29T= (n.9829+29T=)
c.10051+29T= (n.10051+29T=)
c.9805+29T= (n.9805+29T=)
c.5074+29T= (n.5074+29T=)
c.2824+29T= (n.2824+29T=)
c.3787+29T= (n.3787+29T=)
1g.197090167A>GCA35861910ASPMn.3116+29T>C
c.9829+29T>C (n.9829+29T>C)
c.10051+29T>C (n.10051+29T>C)
c.9805+29T>C (n.9805+29T>C)
c.5074+29T>C (n.5074+29T>C)
c.2824+29T>C (n.2824+29T>C)
c.3787+29T>C (n.3787+29T>C)
 dbSNP
1g.197090167A>TCA2649660623ASPMn.3116+29T>A
c.9829+29T>A (n.9829+29T>A)
c.10051+29T>A (n.10051+29T>A)
c.9805+29T>A (n.9805+29T>A)
c.5074+29T>A (n.5074+29T>A)
c.2824+29T>A (n.2824+29T>A)
c.3787+29T>A (n.3787+29T>A)
 gnomAD v4
1g.197090168T>CCA2698076217ASPMn.3116+28A>G
c.9829+28A>G (n.9829+28A>G)
c.10051+28A>G (n.10051+28A>G)
c.9805+28A>G (n.9805+28A>G)
c.5074+28A>G (n.5074+28A>G)
c.2824+28A>G (n.2824+28A>G)
c.3787+28A>G (n.3787+28A>G)
 dbSNP
1g.197090169T>CCA2649660624ASPMn.3116+27A>G
c.9829+27A>G (n.9829+27A>G)
c.10051+27A>G (n.10051+27A>G)
c.9805+27A>G (n.9805+27A>G)
c.5074+27A>G (n.5074+27A>G)
c.2824+27A>G (n.2824+27A>G)
c.3787+27A>G (n.3787+27A>G)
 gnomAD v4
1g.197090170C=CA1217925099ASPMn.3116+26G=
c.9829+26G= (n.9829+26G=)
c.10051+26G= (n.10051+26G=)
c.9805+26G= (n.9805+26G=)
c.5074+26G= (n.5074+26G=)
c.2824+26G= (n.2824+26G=)
c.3787+26G= (n.3787+26G=)
1g.197090170C>GCA1217925100ASPMn.3116+26G>C
c.9829+26G>C (n.9829+26G>C)
c.10051+26G>C (n.10051+26G>C)
c.9805+26G>C (n.9805+26G>C)
c.5074+26G>C (n.5074+26G>C)
c.2824+26G>C (n.2824+26G>C)
c.3787+26G>C (n.3787+26G>C)
 dbSNP
1g.197090170C>TCA2649660625ASPMn.3116+26G>A
c.9829+26G>A (n.9829+26G>A)
c.10051+26G>A (n.10051+26G>A)
c.9805+26G>A (n.9805+26G>A)
c.5074+26G>A (n.5074+26G>A)
c.2824+26G>A (n.2824+26G>A)
c.3787+26G>A (n.3787+26G>A)
 gnomAD v4
1g.197090171T>CCA2649660627ASPMn.3116+25A>G
c.9829+25A>G (n.9829+25A>G)
c.10051+25A>G (n.10051+25A>G)
c.9805+25A>G (n.9805+25A>G)
c.5074+25A>G (n.5074+25A>G)
c.2824+25A>G (n.2824+25A>G)
c.3787+25A>G (n.3787+25A>G)
 gnomAD v4
1g.197090173dupCA2649660626ASPMn.3116+25dup
c.9829+25dup (n.9829+25dup)
c.10051+25dup (n.10051+25dup)
c.9805+25dup (n.9805+25dup)
c.5074+25dup (n.5074+25dup)
c.2824+25dup (n.2824+25dup)
c.3787+25dup (n.3787+25dup)
 gnomAD v4
1g.197090173T>CCA528534977ASPMn.3116+23A>G
c.9829+23A>G (n.9829+23A>G)
c.10051+23A>G (n.10051+23A>G)
c.9805+23A>G (n.9805+23A>G)
c.5074+23A>G (n.5074+23A>G)
c.2824+23A>G (n.2824+23A>G)
c.3787+23A>G (n.3787+23A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.197090173T>GCA2649660628ASPMn.3116+23A>C
c.9829+23A>C (n.9829+23A>C)
c.10051+23A>C (n.10051+23A>C)
c.9805+23A>C (n.9805+23A>C)
c.5074+23A>C (n.5074+23A>C)
c.2824+23A>C (n.2824+23A>C)
c.3787+23A>C (n.3787+23A>C)
 gnomAD v4
1g.197090173T=CA1217925102ASPMn.3116+23A=
c.9829+23A= (n.9829+23A=)
c.10051+23A= (n.10051+23A=)
c.9805+23A= (n.9805+23A=)
c.5074+23A= (n.5074+23A=)
c.2824+23A= (n.2824+23A=)
c.3787+23A= (n.3787+23A=)
1g.197090177C=CA1217925104ASPMn.3116+19G=
c.9829+19G= (n.9829+19G=)
c.10051+19G= (n.10051+19G=)
c.9805+19G= (n.9805+19G=)
c.5074+19G= (n.5074+19G=)
c.2824+19G= (n.2824+19G=)
c.3787+19G= (n.3787+19G=)
1g.197090177C>TCA1308859ASPMn.3116+19G>A
c.9829+19G>A (n.9829+19G>A)
c.10051+19G>A (n.10051+19G>A)
c.9805+19G>A (n.9805+19G>A)
c.5074+19G>A (n.5074+19G>A)
c.2824+19G>A (n.2824+19G>A)
c.3787+19G>A (n.3787+19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090179T>CCA2649660629ASPMn.3116+17A>G
c.9829+17A>G (n.9829+17A>G)
c.10051+17A>G (n.10051+17A>G)
c.9805+17A>G (n.9805+17A>G)
c.5074+17A>G (n.5074+17A>G)
c.2824+17A>G (n.2824+17A>G)
c.3787+17A>G (n.3787+17A>G)
 dbSNP gnomAD v4
1g.197090181T>CCA1308860ASPMn.3116+15A>G
c.9829+15A>G (n.9829+15A>G)
c.10051+15A>G (n.10051+15A>G)
c.9805+15A>G (n.9805+15A>G)
c.5074+15A>G (n.5074+15A>G)
c.2824+15A>G (n.2824+15A>G)
c.3787+15A>G (n.3787+15A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.197090181T>GCA1010898247ASPMn.3116+15A>C
c.9829+15A>C (n.9829+15A>C)
c.10051+15A>C (n.10051+15A>C)
c.9805+15A>C (n.9805+15A>C)
c.5074+15A>C (n.5074+15A>C)
c.2824+15A>C (n.2824+15A>C)
c.3787+15A>C (n.3787+15A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.197090181T=CA1217925108ASPMn.3116+15A=
c.9829+15A= (n.9829+15A=)
c.10051+15A= (n.10051+15A=)
c.9805+15A= (n.9805+15A=)
c.5074+15A= (n.5074+15A=)
c.2824+15A= (n.2824+15A=)
c.3787+15A= (n.3787+15A=)
1g.197090183A>CCA2649660630ASPMn.3116+13T>G
c.9829+13T>G (n.9829+13T>G)
c.10051+13T>G (n.10051+13T>G)
c.9805+13T>G (n.9805+13T>G)
c.5074+13T>G (n.5074+13T>G)
c.2824+13T>G (n.2824+13T>G)
c.3787+13T>G (n.3787+13T>G)
 gnomAD v4
1g.197090184A=CA1217925111ASPMn.3116+12T=
c.9829+12T= (n.9829+12T=)
c.10051+12T= (n.10051+12T=)
c.9805+12T= (n.9805+12T=)
c.5074+12T= (n.5074+12T=)
c.2824+12T= (n.2824+12T=)
c.3787+12T= (n.3787+12T=)
1g.197090184A>TCA1010898248ASPMn.3116+12T>A
c.9829+12T>A (n.9829+12T>A)
c.10051+12T>A (n.10051+12T>A)
c.9805+12T>A (n.9805+12T>A)
c.5074+12T>A (n.5074+12T>A)
c.2824+12T>A (n.2824+12T>A)
c.3787+12T>A (n.3787+12T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.197090185C>TCA2649660631ASPMn.3116+11G>A
c.9829+11G>A (n.9829+11G>A)
c.10051+11G>A (n.10051+11G>A)
c.9805+11G>A (n.9805+11G>A)
c.5074+11G>A (n.5074+11G>A)
c.2824+11G>A (n.2824+11G>A)
c.3787+11G>A (n.3787+11G>A)
 gnomAD v4
1g.197090186A=CA1217925113ASPMn.3116+10T=
c.9829+10T= (n.9829+10T=)
c.10051+10T= (n.10051+10T=)
c.9805+10T= (n.9805+10T=)
c.5074+10T= (n.5074+10T=)
c.2824+10T= (n.2824+10T=)
c.3787+10T= (n.3787+10T=)
1g.197090186A>GCA35861923ASPMn.3116+10T>C
c.9829+10T>C (n.9829+10T>C)
c.10051+10T>C (n.10051+10T>C)
c.9805+10T>C (n.9805+10T>C)
c.5074+10T>C (n.5074+10T>C)
c.2824+10T>C (n.2824+10T>C)
c.3787+10T>C (n.3787+10T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090188_197090191delCA2649660632ASPMn.3116+7_3116+10del
c.9829+7_9829+10del (n.9829+7_9829+10del)
c.10051+7_10051+10del (n.10051+7_10051+10del)
c.9805+7_9805+10del (n.9805+7_9805+10del)
c.5074+7_5074+10del (n.5074+7_5074+10del)
c.2824+7_2824+10del (n.2824+7_2824+10del)
c.3787+7_3787+10del (n.3787+7_3787+10del)
 gnomAD v4
1g.197090187C>TCA2649660633ASPMn.3116+9G>A
c.9829+9G>A (n.9829+9G>A)
c.10051+9G>A (n.10051+9G>A)
c.9805+9G>A (n.9805+9G>A)
c.5074+9G>A (n.5074+9G>A)
c.2824+9G>A (n.2824+9G>A)
c.3787+9G>A (n.3787+9G>A)
 gnomAD v4
1g.197090188A=CA1217925116ASPMn.3116+8T=
c.9829+8T= (n.9829+8T=)
c.10051+8T= (n.10051+8T=)
c.9805+8T= (n.9805+8T=)
c.5074+8T= (n.5074+8T=)
c.2824+8T= (n.2824+8T=)
c.3787+8T= (n.3787+8T=)
1g.197090188A>CCA1217925117ASPMn.3116+8T>G
c.9829+8T>G (n.9829+8T>G)
c.10051+8T>G (n.10051+8T>G)
c.9805+8T>G (n.9805+8T>G)
c.5074+8T>G (n.5074+8T>G)
c.2824+8T>G (n.2824+8T>G)
c.3787+8T>G (n.3787+8T>G)
 dbSNP
1g.197090191C>TCA2649660634ASPMn.3116+5G>A
c.9829+5G>A (n.9829+5G>A)
c.10051+5G>A (n.10051+5G>A)
c.9805+5G>A (n.9805+5G>A)
c.5074+5G>A (n.5074+5G>A)
c.2824+5G>A (n.2824+5G>A)
c.3787+5G>A (n.3787+5G>A)
 gnomAD v4
1g.197090194A>CCA344001465ASPMn.3116+2T>G
c.9829+2T>G (n.9829+2T>G)
c.10051+2T>G (n.10051+2T>G)
c.9805+2T>G (n.9805+2T>G)
c.5074+2T>G (n.5074+2T>G)
c.2824+2T>G (n.2824+2T>G)
c.3787+2T>G (n.3787+2T>G)
1g.197090194A>GCA344001467ASPMn.3116+2T>C
c.9829+2T>C (n.9829+2T>C)
c.10051+2T>C (n.10051+2T>C)
c.9805+2T>C (n.9805+2T>C)
c.5074+2T>C (n.5074+2T>C)
c.2824+2T>C (n.2824+2T>C)
c.3787+2T>C (n.3787+2T>C)
1g.197090194A>TCA344001468ASPMn.3116+2T>A
c.9829+2T>A (n.9829+2T>A)
c.10051+2T>A (n.10051+2T>A)
c.9805+2T>A (n.9805+2T>A)
c.5074+2T>A (n.5074+2T>A)
c.2824+2T>A (n.2824+2T>A)
c.3787+2T>A (n.3787+2T>A)
1g.197090195C>ACA344001472ASPMn.3116+1G>T
c.9829+1G>T (n.9829+1G>T)
c.10051+1G>T (n.10051+1G>T)
c.9805+1G>T (n.9805+1G>T)
c.5074+1G>T (n.5074+1G>T)
c.2824+1G>T (n.2824+1G>T)
c.3787+1G>T (n.3787+1G>T)
1g.197090195C>GCA344001474ASPMn.3116+1G>C
c.9829+1G>C (n.9829+1G>C)
c.10051+1G>C (n.10051+1G>C)
c.9805+1G>C (n.9805+1G>C)
c.5074+1G>C (n.5074+1G>C)
c.2824+1G>C (n.2824+1G>C)
c.3787+1G>C (n.3787+1G>C)
1g.197090195C>TCA344001477ASPMn.3116+1G>A
c.9829+1G>A (n.9829+1G>A)
c.10051+1G>A (n.10051+1G>A)
c.9805+1G>A (n.9805+1G>A)
c.5074+1G>A (n.5074+1G>A)
c.2824+1G>A (n.2824+1G>A)
c.3787+1G>A (n.3787+1G>A)
1g.197090196C>ACA1308861ASPMn.3116G>T
c.9829G>T (p.Glu3277Ter)
c.10051G>T (p.Glu3351Ter)
c.9805G>T (p.Glu3269Ter)
c.5074G>T (p.Glu1692Ter)
c.2824G>T (p.Glu942Ter)
c.3787G>T (p.Glu1263Ter)
 dbSNP ExAC gnomAD v2
1g.197090196C=CA1217925120ASPMn.3116G=
c.9829G= (p.Glu3277=)
c.10051G= (p.Glu3351=)
c.9805G= (p.Glu3269=)
c.5074G= (p.Glu1692=)
c.2824G= (p.Glu942=)
c.3787G= (p.Glu1263=)
1g.197090196C>GCA344001483ASPMn.3116G>C
c.9829G>C (p.Glu3277Gln)
c.10051G>C (p.Glu3351Gln)
c.9805G>C (p.Glu3269Gln)
c.5074G>C (p.Glu1692Gln)
c.2824G>C (p.Glu942Gln)
c.3787G>C (p.Glu1263Gln)
1g.197090196C>TCA344001480ASPMn.3116G>A
c.9829G>A (p.Glu3277Lys)
c.10051G>A (p.Glu3351Lys)
c.9805G>A (p.Glu3269Lys)
c.5074G>A (p.Glu1692Lys)
c.2824G>A (p.Glu942Lys)
c.3787G>A (p.Glu1263Lys)
1g.197090197T>ACA422805062ASPMn.3115A>T
c.9828A>T (p.Leu3276=)
c.10050A>T (p.Leu3350=)
c.9804A>T (p.Leu3268=)
c.5073A>T (p.Leu1691=)
c.2823A>T (p.Leu941=)
c.3786A>T (p.Leu1262=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090197T>CCA422805065ASPMn.3115A>G
c.9828A>G (p.Leu3276=)
c.10050A>G (p.Leu3350=)
c.9804A>G (p.Leu3268=)
c.5073A>G (p.Leu1691=)
c.2823A>G (p.Leu941=)
c.3786A>G (p.Leu1262=)
1g.197090197T>GCA422805066ASPMn.3115A>C
c.9828A>C (p.Leu3276=)
c.10050A>C (p.Leu3350=)
c.9804A>C (p.Leu3268=)
c.5073A>C (p.Leu1691=)
c.2823A>C (p.Leu941=)
c.3786A>C (p.Leu1262=)
1g.197090197T=CA1217925122ASPMn.3115A=
c.9828A= (p.Leu3276=)
c.10050A= (p.Leu3350=)
c.9804A= (p.Leu3268=)
c.5073A= (p.Leu1691=)
c.2823A= (p.Leu941=)
c.3786A= (p.Leu1262=)
1g.197090198_197090201delCA2649660635ASPMn.3112_3115del
c.9825_9828del (p.His3275GlnfsTer3)
c.10047_10050del (p.His3349GlnfsTer3)
c.9801_9804del (p.His3267GlnfsTer3)
c.5070_5073del (p.His1690GlnfsTer3)
c.2820_2823del (p.His940GlnfsTer3)
c.3783_3786del (p.His1261GlnfsTer3)
 gnomAD v4
1g.197090198A>CCA344001485ASPMn.3114T>G
c.9827T>G (p.Leu3276Arg)
c.10049T>G (p.Leu3350Arg)
c.9803T>G (p.Leu3268Arg)
c.5072T>G (p.Leu1691Arg)
c.2822T>G (p.Leu941Arg)
c.3785T>G (p.Leu1262Arg)
1g.197090198A>GCA344001487ASPMn.3114T>C
c.9827T>C (p.Leu3276Pro)
c.10049T>C (p.Leu3350Pro)
c.9803T>C (p.Leu3268Pro)
c.5072T>C (p.Leu1691Pro)
c.2822T>C (p.Leu941Pro)
c.3785T>C (p.Leu1262Pro)
1g.197090198A>TCA344001490ASPMn.3114T>A
c.9827T>A (p.Leu3276Gln)
c.10049T>A (p.Leu3350Gln)
c.9803T>A (p.Leu3268Gln)
c.5072T>A (p.Leu1691Gln)
c.2822T>A (p.Leu941Gln)
c.3785T>A (p.Leu1262Gln)
1g.197090199G>ACA422805071ASPMn.3113C>T
c.9826C>T (p.Leu3276=)
c.10048C>T (p.Leu3350=)
c.9802C>T (p.Leu3268=)
c.5071C>T (p.Leu1691=)
c.2821C>T (p.Leu941=)
c.3784C>T (p.Leu1262=)
1g.197090199G>CCA344001493ASPMn.3113C>G
c.9826C>G (p.Leu3276Val)
c.10048C>G (p.Leu3350Val)
c.9802C>G (p.Leu3268Val)
c.5071C>G (p.Leu1691Val)
c.2821C>G (p.Leu941Val)
c.3784C>G (p.Leu1262Val)
1g.197090199G>TCA344001496ASPMn.3113C>A
c.9826C>A (p.Leu3276Ile)
c.10048C>A (p.Leu3350Ile)
c.9802C>A (p.Leu3268Ile)
c.5071C>A (p.Leu1691Ile)
c.2821C>A (p.Leu941Ile)
c.3784C>A (p.Leu1262Ile)
1g.197090200G>ACA422805082ASPMn.3112C>T
c.9825C>T (p.His3275=)
c.10047C>T (p.His3349=)
c.9801C>T (p.His3267=)
c.5070C>T (p.His1690=)
c.2820C>T (p.His940=)
c.3783C>T (p.His1261=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090200G>CCA344001501ASPMn.3112C>G
c.9825C>G (p.His3275Gln)
c.10047C>G (p.His3349Gln)
c.9801C>G (p.His3267Gln)
c.5070C>G (p.His1690Gln)
c.2820C>G (p.His940Gln)
c.3783C>G (p.His1261Gln)
1g.197090200G=CA1217925124ASPMn.3112C=
c.9825C= (p.His3275=)
c.10047C= (p.His3349=)
c.9801C= (p.His3267=)
c.5070C= (p.His1690=)
c.2820C= (p.His940=)
c.3783C= (p.His1261=)
1g.197090200G>TCA344001504ASPMn.3112C>A
c.9825C>A (p.His3275Gln)
c.10047C>A (p.His3349Gln)
c.9801C>A (p.His3267Gln)
c.5070C>A (p.His1690Gln)
c.2820C>A (p.His940Gln)
c.3783C>A (p.His1261Gln)
 ClinVar dbSNP gnomAD v4
1g.197090200_197090203delCA2649660636ASPMn.3109_3112del
c.9822_9825del (p.Lys3274AsnfsTer2)
c.10044_10047del (p.Lys3348AsnfsTer2)
c.9798_9801del (p.Lys3266AsnfsTer2)
c.5067_5070del (p.Lys1689AsnfsTer2)
c.2817_2820del (p.Lys939AsnfsTer2)
c.3780_3783del (p.Lys1260AsnfsTer2)
 gnomAD v4
1g.197090201T>ACA344001506ASPMn.3111A>T
c.9824A>T (p.His3275Leu)
c.10046A>T (p.His3349Leu)
c.9800A>T (p.His3267Leu)
c.5069A>T (p.His1690Leu)
c.2819A>T (p.His940Leu)
c.3782A>T (p.His1261Leu)
1g.197090201T>CCA344001581ASPMn.3111A>G
c.9824A>G (p.His3275Arg)
c.10046A>G (p.His3349Arg)
c.9800A>G (p.His3267Arg)
c.5069A>G (p.His1690Arg)
c.2819A>G (p.His940Arg)
c.3782A>G (p.His1261Arg)
 gnomAD v4
1g.197090201T>GCA344001591ASPMn.3111A>C
c.9824A>C (p.His3275Pro)
c.10046A>C (p.His3349Pro)
c.9800A>C (p.His3267Pro)
c.5069A>C (p.His1690Pro)
c.2819A>C (p.His940Pro)
c.3782A>C (p.His1261Pro)
 ClinVar dbSNP
1g.197090202G>ACA344001598ASPMn.3110C>T
c.9823C>T (p.His3275Tyr)
c.10045C>T (p.His3349Tyr)
c.9799C>T (p.His3267Tyr)
c.5068C>T (p.His1690Tyr)
c.2818C>T (p.His940Tyr)
c.3781C>T (p.His1261Tyr)
1g.197090202G>CCA344001600ASPMn.3110C>G
c.9823C>G (p.His3275Asp)
c.10045C>G (p.His3349Asp)
c.9799C>G (p.His3267Asp)
c.5068C>G (p.His1690Asp)
c.2818C>G (p.His940Asp)
c.3781C>G (p.His1261Asp)
1g.197090202G>TCA344001595ASPMn.3110C>A
c.9823C>A (p.His3275Asn)
c.10045C>A (p.His3349Asn)
c.9799C>A (p.His3267Asn)
c.5068C>A (p.His1690Asn)
c.2818C>A (p.His940Asn)
c.3781C>A (p.His1261Asn)
1g.197090203T>ACA344001606ASPMn.3109A>T
c.9822A>T (p.Lys3274Asn)
c.10044A>T (p.Lys3348Asn)
c.9798A>T (p.Lys3266Asn)
c.5067A>T (p.Lys1689Asn)
c.2817A>T (p.Lys939Asn)
c.3780A>T (p.Lys1260Asn)
1g.197090203T>CCA422805087ASPMn.3109A>G
c.9822A>G (p.Lys3274=)
c.10044A>G (p.Lys3348=)
c.9798A>G (p.Lys3266=)
c.5067A>G (p.Lys1689=)
c.2817A>G (p.Lys939=)
c.3780A>G (p.Lys1260=)
1g.197090203T>GCA344001607ASPMn.3109A>C
c.9822A>C (p.Lys3274Asn)
c.10044A>C (p.Lys3348Asn)
c.9798A>C (p.Lys3266Asn)
c.5067A>C (p.Lys1689Asn)
c.2817A>C (p.Lys939Asn)
c.3780A>C (p.Lys1260Asn)
1g.197090206delCA2573979000ASPMn.3109del
c.9822del (p.Lys3274AsnfsTer3)
c.10044del (p.Lys3348AsnfsTer3)
c.9798del (p.Lys3266AsnfsTer3)
c.5067del (p.Lys1689AsnfsTer3)
c.2817del (p.Lys939AsnfsTer3)
c.3780del (p.Lys1260AsnfsTer3)
 gnomAD v4
1g.197090204T>ACA344001609ASPMn.3108A>T
c.9821A>T (p.Lys3274Ile)
c.10043A>T (p.Lys3348Ile)
c.9797A>T (p.Lys3266Ile)
c.5066A>T (p.Lys1689Ile)
c.2816A>T (p.Lys939Ile)
c.3779A>T (p.Lys1260Ile)
1g.197090204T>CCA344001610ASPMn.3108A>G
c.9821A>G (p.Lys3274Arg)
c.10043A>G (p.Lys3348Arg)
c.9797A>G (p.Lys3266Arg)
c.5066A>G (p.Lys1689Arg)
c.2816A>G (p.Lys939Arg)
c.3779A>G (p.Lys1260Arg)
1g.197090204T>GCA344001612ASPMn.3108A>C
c.9821A>C (p.Lys3274Thr)
c.10043A>C (p.Lys3348Thr)
c.9797A>C (p.Lys3266Thr)
c.5066A>C (p.Lys1689Thr)
c.2816A>C (p.Lys939Thr)
c.3779A>C (p.Lys1260Thr)
1g.197090205T>ACA344001615ASPMn.3107A>T
c.9820A>T (p.Lys3274Ter)
c.10042A>T (p.Lys3348Ter)
c.9796A>T (p.Lys3266Ter)
c.5065A>T (p.Lys1689Ter)
c.2815A>T (p.Lys939Ter)
c.3778A>T (p.Lys1260Ter)
1g.197090205T>CCA344001617ASPMn.3107A>G
c.9820A>G (p.Lys3274Glu)
c.10042A>G (p.Lys3348Glu)
c.9796A>G (p.Lys3266Glu)
c.5065A>G (p.Lys1689Glu)
c.2815A>G (p.Lys939Glu)
c.3778A>G (p.Lys1260Glu)
1g.197090205T>GCA344001618ASPMn.3107A>C
c.9820A>C (p.Lys3274Gln)
c.10042A>C (p.Lys3348Gln)
c.9796A>C (p.Lys3266Gln)
c.5065A>C (p.Lys1689Gln)
c.2815A>C (p.Lys939Gln)
c.3778A>C (p.Lys1260Gln)
1g.197090206T>ACA344001622ASPMn.3106A>T
c.9819A>T (p.Leu3273Phe)
c.10041A>T (p.Leu3347Phe)
c.9795A>T (p.Leu3265Phe)
c.5064A>T (p.Leu1688Phe)
c.2814A>T (p.Leu938Phe)
c.3777A>T (p.Leu1259Phe)
1g.197090206T>CCA422805102ASPMn.3106A>G
c.9819A>G (p.Leu3273=)
c.10041A>G (p.Leu3347=)
c.9795A>G (p.Leu3265=)
c.5064A>G (p.Leu1688=)
c.2814A>G (p.Leu938=)
c.3777A>G (p.Leu1259=)
1g.197090206T>GCA344001624ASPMn.3106A>C
c.9819A>C (p.Leu3273Phe)
c.10041A>C (p.Leu3347Phe)
c.9795A>C (p.Leu3265Phe)
c.5064A>C (p.Leu1688Phe)
c.2814A>C (p.Leu938Phe)
c.3777A>C (p.Leu1259Phe)
 ClinVar dbSNP gnomAD v4
1g.197090207A>CCA344001627ASPMn.3105T>G
c.9818T>G (p.Leu3273Ter)
c.10040T>G (p.Leu3347Ter)
c.9794T>G (p.Leu3265Ter)
c.5063T>G (p.Leu1688Ter)
c.2813T>G (p.Leu938Ter)
c.3776T>G (p.Leu1259Ter)
1g.197090207A>GCA344001629ASPMn.3105T>C
c.9818T>C (p.Leu3273Ser)
c.10040T>C (p.Leu3347Ser)
c.9794T>C (p.Leu3265Ser)
c.5063T>C (p.Leu1688Ser)
c.2813T>C (p.Leu938Ser)
c.3776T>C (p.Leu1259Ser)
 gnomAD v4
1g.197090207A>TCA344001634ASPMn.3105T>A
c.9818T>A (p.Leu3273Ter)
c.10040T>A (p.Leu3347Ter)
c.9794T>A (p.Leu3265Ter)
c.5063T>A (p.Leu1688Ter)
c.2813T>A (p.Leu938Ter)
c.3776T>A (p.Leu1259Ter)
1g.197090208A>CCA344001636ASPMn.3104T>G
c.9817T>G (p.Leu3273Val)
c.10039T>G (p.Leu3347Val)
c.9793T>G (p.Leu3265Val)
c.5062T>G (p.Leu1688Val)
c.2812T>G (p.Leu938Val)
c.3775T>G (p.Leu1259Val)
1g.197090208A>GCA422805107ASPMn.3104T>C
c.9817T>C (p.Leu3273=)
c.10039T>C (p.Leu3347=)
c.9793T>C (p.Leu3265=)
c.5062T>C (p.Leu1688=)
c.2812T>C (p.Leu938=)
c.3775T>C (p.Leu1259=)
 COSMIC
1g.197090208A>TCA344001635ASPMn.3104T>A
c.9817T>A (p.Leu3273Ile)
c.10039T>A (p.Leu3347Ile)
c.9793T>A (p.Leu3265Ile)
c.5062T>A (p.Leu1688Ile)
c.2812T>A (p.Leu938Ile)
c.3775T>A (p.Leu1259Ile)
1g.197090209G>ACA422805109ASPMn.3103C>T
c.9816C>T (p.Ala3272=)
c.10038C>T (p.Ala3346=)
c.9792C>T (p.Ala3264=)
c.5061C>T (p.Ala1687=)
c.2811C>T (p.Ala937=)
c.3774C>T (p.Ala1258=)
1g.197090209G>CCA422805111ASPMn.3103C>G
c.9816C>G (p.Ala3272=)
c.10038C>G (p.Ala3346=)
c.9792C>G (p.Ala3264=)
c.5061C>G (p.Ala1687=)
c.2811C>G (p.Ala937=)
c.3774C>G (p.Ala1258=)
1g.197090209G>TCA422805112ASPMn.3103C>A
c.9816C>A (p.Ala3272=)
c.10038C>A (p.Ala3346=)
c.9792C>A (p.Ala3264=)
c.5061C>A (p.Ala1687=)
c.2811C>A (p.Ala937=)
c.3774C>A (p.Ala1258=)
1g.197090210G>ACA344001637ASPMn.3102C>T
c.9815C>T (p.Ala3272Val)
c.10037C>T (p.Ala3346Val)
c.9791C>T (p.Ala3264Val)
c.5060C>T (p.Ala1687Val)
c.2810C>T (p.Ala937Val)
c.3773C>T (p.Ala1258Val)
1g.197090210G>CCA344001638ASPMn.3102C>G
c.9815C>G (p.Ala3272Gly)
c.10037C>G (p.Ala3346Gly)
c.9791C>G (p.Ala3264Gly)
c.5060C>G (p.Ala1687Gly)
c.2810C>G (p.Ala937Gly)
c.3773C>G (p.Ala1258Gly)
 gnomAD v4
1g.197090210G>TCA344001639ASPMn.3102C>A
c.9815C>A (p.Ala3272Asp)
c.10037C>A (p.Ala3346Asp)
c.9791C>A (p.Ala3264Asp)
c.5060C>A (p.Ala1687Asp)
c.2810C>A (p.Ala937Asp)
c.3773C>A (p.Ala1258Asp)
1g.197090211C>ACA344001640ASPMn.3101G>T
c.9814G>T (p.Ala3272Ser)
c.10036G>T (p.Ala3346Ser)
c.9790G>T (p.Ala3264Ser)
c.5059G>T (p.Ala1687Ser)
c.2809G>T (p.Ala937Ser)
c.3772G>T (p.Ala1258Ser)
1g.197090211C=CA1217925127ASPMn.3101G=
c.9814G= (p.Ala3272=)
c.10036G= (p.Ala3346=)
c.9790G= (p.Ala3264=)
c.5059G= (p.Ala1687=)
c.2809G= (p.Ala937=)
c.3772G= (p.Ala1258=)
1g.197090211C>GCA344001641ASPMn.3101G>C
c.9814G>C (p.Ala3272Pro)
c.10036G>C (p.Ala3346Pro)
c.9790G>C (p.Ala3264Pro)
c.5059G>C (p.Ala1687Pro)
c.2809G>C (p.Ala937Pro)
c.3772G>C (p.Ala1258Pro)
1g.197090211C>TCA35861926ASPMn.3101G>A
c.9814G>A (p.Ala3272Thr)
c.10036G>A (p.Ala3346Thr)
c.9790G>A (p.Ala3264Thr)
c.5059G>A (p.Ala1687Thr)
c.2809G>A (p.Ala937Thr)
c.3772G>A (p.Ala1258Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090212C>ACA344001643ASPMn.3100G>T
c.9813G>T (p.Glu3271Asp)
c.10035G>T (p.Glu3345Asp)
c.9789G>T (p.Glu3263Asp)
c.5058G>T (p.Glu1686Asp)
c.2808G>T (p.Glu936Asp)
c.3771G>T (p.Glu1257Asp)
1g.197090212C=CA1217925130ASPMn.3100G=
c.9813G= (p.Glu3271=)
c.10035G= (p.Glu3345=)
c.9789G= (p.Glu3263=)
c.5058G= (p.Glu1686=)
c.2808G= (p.Glu936=)
c.3771G= (p.Glu1257=)
1g.197090212C>GCA344001642ASPMn.3100G>C
c.9813G>C (p.Glu3271Asp)
c.10035G>C (p.Glu3345Asp)
c.9789G>C (p.Glu3263Asp)
c.5058G>C (p.Glu1686Asp)
c.2808G>C (p.Glu936Asp)
c.3771G>C (p.Glu1257Asp)
1g.197090212C>TCA422805118ASPMn.3100G>A
c.9813G>A (p.Glu3271=)
c.10035G>A (p.Glu3345=)
c.9789G>A (p.Glu3263=)
c.5058G>A (p.Glu1686=)
c.2808G>A (p.Glu936=)
c.3771G>A (p.Glu1257=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090213T>ACA344001644ASPMn.3099A>T
c.9812A>T (p.Glu3271Val)
c.10034A>T (p.Glu3345Val)
c.9788A>T (p.Glu3263Val)
c.5057A>T (p.Glu1686Val)
c.2807A>T (p.Glu936Val)
c.3770A>T (p.Glu1257Val)
1g.197090213T>CCA344001645ASPMn.3099A>G
c.9812A>G (p.Glu3271Gly)
c.10034A>G (p.Glu3345Gly)
c.9788A>G (p.Glu3263Gly)
c.5057A>G (p.Glu1686Gly)
c.2807A>G (p.Glu936Gly)
c.3770A>G (p.Glu1257Gly)
1g.197090213T>GCA344001646ASPMn.3099A>C
c.9812A>C (p.Glu3271Ala)
c.10034A>C (p.Glu3345Ala)
c.9788A>C (p.Glu3263Ala)
c.5057A>C (p.Glu1686Ala)
c.2807A>C (p.Glu936Ala)
c.3770A>C (p.Glu1257Ala)
1g.197090214C>ACA344001647ASPMn.3098G>T
c.9811G>T (p.Glu3271Ter)
c.10033G>T (p.Glu3345Ter)
c.9787G>T (p.Glu3263Ter)
c.5056G>T (p.Glu1686Ter)
c.2806G>T (p.Glu936Ter)
c.3769G>T (p.Glu1257Ter)
1g.197090214C>GCA344001648ASPMn.3098G>C
c.9811G>C (p.Glu3271Gln)
c.10033G>C (p.Glu3345Gln)
c.9787G>C (p.Glu3263Gln)
c.5056G>C (p.Glu1686Gln)
c.2806G>C (p.Glu936Gln)
c.3769G>C (p.Glu1257Gln)
1g.197090214C>TCA344001649ASPMn.3098G>A
c.9811G>A (p.Glu3271Lys)
c.10033G>A (p.Glu3345Lys)
c.9787G>A (p.Glu3263Lys)
c.5056G>A (p.Glu1686Lys)
c.2806G>A (p.Glu936Lys)
c.3769G>A (p.Glu1257Lys)
1g.197090215A>CCA422805124ASPMn.3097T>G
c.9810T>G (p.Leu3270=)
c.10032T>G (p.Leu3344=)
c.9786T>G (p.Leu3262=)
c.5055T>G (p.Leu1685=)
c.2805T>G (p.Leu935=)
c.3768T>G (p.Leu1256=)
1g.197090215A>GCA422805125ASPMn.3097T>C
c.9810T>C (p.Leu3270=)
c.10032T>C (p.Leu3344=)
c.9786T>C (p.Leu3262=)
c.5055T>C (p.Leu1685=)
c.2805T>C (p.Leu935=)
c.3768T>C (p.Leu1256=)
1g.197090215A>TCA422805127ASPMn.3097T>A
c.9810T>A (p.Leu3270=)
c.10032T>A (p.Leu3344=)
c.9786T>A (p.Leu3262=)
c.5055T>A (p.Leu1685=)
c.2805T>A (p.Leu935=)
c.3768T>A (p.Leu1256=)
1g.197090216A=CA1143917914ASPMn.3096T=
c.9809T= (p.Leu3270=)
c.10031T= (p.Leu3344=)
c.9785T= (p.Leu3262=)
c.5054T= (p.Leu1685=)
c.2804T= (p.Leu935=)
c.3767T= (p.Leu1256=)
1g.197090216A>CCA344001650ASPMn.3096T>G
c.9809T>G (p.Leu3270Arg)
c.10031T>G (p.Leu3344Arg)
c.9785T>G (p.Leu3262Arg)
c.5054T>G (p.Leu1685Arg)
c.2804T>G (p.Leu935Arg)
c.3767T>G (p.Leu1256Arg)
1g.197090216A>GCA344001651ASPMn.3096T>C
c.9809T>C (p.Leu3270Pro)
c.10031T>C (p.Leu3344Pro)
c.9785T>C (p.Leu3262Pro)
c.5054T>C (p.Leu1685Pro)
c.2804T>C (p.Leu935Pro)
c.3767T>C (p.Leu1256Pro)
1g.197090216A>TCA1308862ASPMn.3096T>A
c.9809T>A (p.Leu3270His)
c.10031T>A (p.Leu3344His)
c.9785T>A (p.Leu3262His)
c.5054T>A (p.Leu1685His)
c.2804T>A (p.Leu935His)
c.3767T>A (p.Leu1256His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090217G>ACA344001652ASPMn.3095C>T
c.9808C>T (p.Leu3270Phe)
c.10030C>T (p.Leu3344Phe)
c.9784C>T (p.Leu3262Phe)
c.5053C>T (p.Leu1685Phe)
c.2803C>T (p.Leu935Phe)
c.3766C>T (p.Leu1256Phe)
1g.197090217G>CCA344001654ASPMn.3095C>G
c.9808C>G (p.Leu3270Val)
c.10030C>G (p.Leu3344Val)
c.9784C>G (p.Leu3262Val)
c.5053C>G (p.Leu1685Val)
c.2803C>G (p.Leu935Val)
c.3766C>G (p.Leu1256Val)
 gnomAD v4
1g.197090217G>TCA344001653ASPMn.3095C>A
c.9808C>A (p.Leu3270Ile)
c.10030C>A (p.Leu3344Ile)
c.9784C>A (p.Leu3262Ile)
c.5053C>A (p.Leu1685Ile)
c.2803C>A (p.Leu935Ile)
c.3766C>A (p.Leu1256Ile)
1g.197090218A=CA1217925136ASPMn.3094T=
c.9807T= (p.Ile3269=)
c.10029T= (p.Ile3343=)
c.9783T= (p.Ile3261=)
c.5052T= (p.Ile1684=)
c.2802T= (p.Ile934=)
c.3765T= (p.Ile1255=)
1g.197090218A>CCA344001655ASPMn.3094T>G
c.9807T>G (p.Ile3269Met)
c.10029T>G (p.Ile3343Met)
c.9783T>G (p.Ile3261Met)
c.5052T>G (p.Ile1684Met)
c.2802T>G (p.Ile934Met)
c.3765T>G (p.Ile1255Met)
1g.197090218A>GCA422805132ASPMn.3094T>C
c.9807T>C (p.Ile3269=)
c.10029T>C (p.Ile3343=)
c.9783T>C (p.Ile3261=)
c.5052T>C (p.Ile1684=)
c.2802T>C (p.Ile934=)
c.3765T>C (p.Ile1255=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197090218A>TCA422805134ASPMn.3094T>A
c.9807T>A (p.Ile3269=)
c.10029T>A (p.Ile3343=)
c.9783T>A (p.Ile3261=)
c.5052T>A (p.Ile1684=)
c.2802T>A (p.Ile934=)
c.3765T>A (p.Ile1255=)
1g.197090219A>CCA344001658ASPMn.3093T>G
c.9806T>G (p.Ile3269Ser)
c.10028T>G (p.Ile3343Ser)
c.9782T>G (p.Ile3261Ser)
c.5051T>G (p.Ile1684Ser)
c.2801T>G (p.Ile934Ser)
c.3764T>G (p.Ile1255Ser)
1g.197090219A>GCA344001656ASPMn.3093T>C
c.9806T>C (p.Ile3269Thr)
c.10028T>C (p.Ile3343Thr)
c.9782T>C (p.Ile3261Thr)
c.5051T>C (p.Ile1684Thr)
c.2801T>C (p.Ile934Thr)
c.3764T>C (p.Ile1255Thr)
1g.197090219A>TCA344001657ASPMn.3093T>A
c.9806T>A (p.Ile3269Asn)
c.10028T>A (p.Ile3343Asn)
c.9782T>A (p.Ile3261Asn)
c.5051T>A (p.Ile1684Asn)
c.2801T>A (p.Ile934Asn)
c.3764T>A (p.Ile1255Asn)
1g.197090220T>ACA344001659ASPMn.3092A>T
c.9805A>T (p.Ile3269Phe)
c.10027A>T (p.Ile3343Phe)
c.9781A>T (p.Ile3261Phe)
c.5050A>T (p.Ile1684Phe)
c.2800A>T (p.Ile934Phe)
c.3763A>T (p.Ile1255Phe)
1g.197090220T>CCA1308863ASPMn.3092A>G
c.9805A>G (p.Ile3269Val)
c.10027A>G (p.Ile3343Val)
c.9781A>G (p.Ile3261Val)
c.5050A>G (p.Ile1684Val)
c.2800A>G (p.Ile934Val)
c.3763A>G (p.Ile1255Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090220T>GCA344001660ASPMn.3092A>C
c.9805A>C (p.Ile3269Leu)
c.10027A>C (p.Ile3343Leu)
c.9781A>C (p.Ile3261Leu)
c.5050A>C (p.Ile1684Leu)
c.2800A>C (p.Ile934Leu)
c.3763A>C (p.Ile1255Leu)
1g.197090220T=CA1217925141ASPMn.3092A=
c.9805A= (p.Ile3269=)
c.10027A= (p.Ile3343=)
c.9781A= (p.Ile3261=)
c.5050A= (p.Ile1684=)
c.2800A= (p.Ile934=)
c.3763A= (p.Ile1255=)
1g.197090221G>ACA1308864ASPMn.3091C>T
c.9804C>T (p.Ala3268=)
c.10026C>T (p.Ala3342=)
c.9780C>T (p.Ala3260=)
c.5049C>T (p.Ala1683=)
c.2799C>T (p.Ala933=)
c.3762C>T (p.Ala1254=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090221G>CCA422805140ASPMn.3091C>G
c.9804C>G (p.Ala3268=)
c.10026C>G (p.Ala3342=)
c.9780C>G (p.Ala3260=)
c.5049C>G (p.Ala1683=)
c.2799C>G (p.Ala933=)
c.3762C>G (p.Ala1254=)
1g.197090221G=CA1217925146ASPMn.3091C=
c.9804C= (p.Ala3268=)
c.10026C= (p.Ala3342=)
c.9780C= (p.Ala3260=)
c.5049C= (p.Ala1683=)
c.2799C= (p.Ala933=)
c.3762C= (p.Ala1254=)
1g.197090221G>TCA422805139ASPMn.3091C>A
c.9804C>A (p.Ala3268=)
c.10026C>A (p.Ala3342=)
c.9780C>A (p.Ala3260=)
c.5049C>A (p.Ala1683=)
c.2799C>A (p.Ala933=)
c.3762C>A (p.Ala1254=)
1g.197090222delCA2649660637ASPMn.3091del
c.9804del (p.Ile3269PhefsTer5)
c.10026del (p.Ile3343PhefsTer5)
c.9780del (p.Ile3261PhefsTer5)
c.5049del (p.Ile1684PhefsTer5)
c.2799del (p.Ile934PhefsTer5)
c.3762del (p.Ile1255PhefsTer5)
 gnomAD v4
1g.197090222G>ACA344001663ASPMn.3090C>T
c.9803C>T (p.Ala3268Val)
c.10025C>T (p.Ala3342Val)
c.9779C>T (p.Ala3260Val)
c.5048C>T (p.Ala1683Val)
c.2798C>T (p.Ala933Val)
c.3761C>T (p.Ala1254Val)
1g.197090222G>CCA344001662ASPMn.3090C>G
c.9803C>G (p.Ala3268Gly)
c.10025C>G (p.Ala3342Gly)
c.9779C>G (p.Ala3260Gly)
c.5048C>G (p.Ala1683Gly)
c.2798C>G (p.Ala933Gly)
c.3761C>G (p.Ala1254Gly)
1g.197090222G>TCA344001661ASPMn.3090C>A
c.9803C>A (p.Ala3268Asp)
c.10025C>A (p.Ala3342Asp)
c.9779C>A (p.Ala3260Asp)
c.5048C>A (p.Ala1683Asp)
c.2798C>A (p.Ala933Asp)
c.3761C>A (p.Ala1254Asp)
1g.197090223C>ACA344001664ASPMn.3089G>T
c.9802G>T (p.Ala3268Ser)
c.10024G>T (p.Ala3342Ser)
c.9778G>T (p.Ala3260Ser)
c.5047G>T (p.Ala1683Ser)
c.2797G>T (p.Ala933Ser)
c.3760G>T (p.Ala1254Ser)
1g.197090223C>GCA344001665ASPMn.3089G>C
c.9802G>C (p.Ala3268Pro)
c.10024G>C (p.Ala3342Pro)
c.9778G>C (p.Ala3260Pro)
c.5047G>C (p.Ala1683Pro)
c.2797G>C (p.Ala933Pro)
c.3760G>C (p.Ala1254Pro)
1g.197090223C>TCA344001666ASPMn.3089G>A
c.9802G>A (p.Ala3268Thr)
c.10024G>A (p.Ala3342Thr)
c.9778G>A (p.Ala3260Thr)
c.5047G>A (p.Ala1683Thr)
c.2797G>A (p.Ala933Thr)
c.3760G>A (p.Ala1254Thr)
1g.197090224A>CCA422805149ASPMn.3088T>G
c.9801T>G (p.Ser3267=)
c.10023T>G (p.Ser3341=)
c.9777T>G (p.Ser3259=)
c.5046T>G (p.Ser1682=)
c.2796T>G (p.Ser932=)
c.3759T>G (p.Ser1253=)
1g.197090224A>GCA422805146ASPMn.3088T>C
c.9801T>C (p.Ser3267=)
c.10023T>C (p.Ser3341=)
c.9777T>C (p.Ser3259=)
c.5046T>C (p.Ser1682=)
c.2796T>C (p.Ser932=)
c.3759T>C (p.Ser1253=)
1g.197090224A>TCA422805143ASPMn.3088T>A
c.9801T>A (p.Ser3267=)
c.10023T>A (p.Ser3341=)
c.9777T>A (p.Ser3259=)
c.5046T>A (p.Ser1682=)
c.2796T>A (p.Ser932=)
c.3759T>A (p.Ser1253=)
1g.197090225G>ACA344001667ASPMn.3087C>T
c.9800C>T (p.Ser3267Phe)
c.10022C>T (p.Ser3341Phe)
c.9776C>T (p.Ser3259Phe)
c.5045C>T (p.Ser1682Phe)
c.2795C>T (p.Ser932Phe)
c.3758C>T (p.Ser1253Phe)
1g.197090225G>CCA344001668ASPMn.3087C>G
c.9800C>G (p.Ser3267Cys)
c.10022C>G (p.Ser3341Cys)
c.9776C>G (p.Ser3259Cys)
c.5045C>G (p.Ser1682Cys)
c.2795C>G (p.Ser932Cys)
c.3758C>G (p.Ser1253Cys)
1g.197090225G>TCA344001669ASPMn.3087C>A
c.9800C>A (p.Ser3267Tyr)
c.10022C>A (p.Ser3341Tyr)
c.9776C>A (p.Ser3259Tyr)
c.5045C>A (p.Ser1682Tyr)
c.2795C>A (p.Ser932Tyr)
c.3758C>A (p.Ser1253Tyr)
1g.197090226A>CCA344001670ASPMn.3086T>G
c.9799T>G (p.Ser3267Ala)
c.10021T>G (p.Ser3341Ala)
c.9775T>G (p.Ser3259Ala)
c.5044T>G (p.Ser1682Ala)
c.2794T>G (p.Ser932Ala)
c.3757T>G (p.Ser1253Ala)
1g.197090226A>GCA344001672ASPMn.3086T>C
c.9799T>C (p.Ser3267Pro)
c.10021T>C (p.Ser3341Pro)
c.9775T>C (p.Ser3259Pro)
c.5044T>C (p.Ser1682Pro)
c.2794T>C (p.Ser932Pro)
c.3757T>C (p.Ser1253Pro)
1g.197090226A>TCA344001671ASPMn.3086T>A
c.9799T>A (p.Ser3267Thr)
c.10021T>A (p.Ser3341Thr)
c.9775T>A (p.Ser3259Thr)
c.5044T>A (p.Ser1682Thr)
c.2794T>A (p.Ser932Thr)
c.3757T>A (p.Ser1253Thr)
1g.197090227A>CCA422805155ASPMn.3085T>G
c.9798T>G (p.Leu3266=)
c.10020T>G (p.Leu3340=)
c.9774T>G (p.Leu3258=)
c.5043T>G (p.Leu1681=)
c.2793T>G (p.Leu931=)
c.3756T>G (p.Leu1252=)
1g.197090227A>GCA422805159ASPMn.3085T>C
c.9798T>C (p.Leu3266=)
c.10020T>C (p.Leu3340=)
c.9774T>C (p.Leu3258=)
c.5043T>C (p.Leu1681=)
c.2793T>C (p.Leu931=)
c.3756T>C (p.Leu1252=)
1g.197090227A>TCA422805157ASPMn.3085T>A
c.9798T>A (p.Leu3266=)
c.10020T>A (p.Leu3340=)
c.9774T>A (p.Leu3258=)
c.5043T>A (p.Leu1681=)
c.2793T>A (p.Leu931=)
c.3756T>A (p.Leu1252=)
1g.197090228A>CCA344001673ASPMn.3084T>G
c.9797T>G (p.Leu3266Arg)
c.10019T>G (p.Leu3340Arg)
c.9773T>G (p.Leu3258Arg)
c.5042T>G (p.Leu1681Arg)
c.2792T>G (p.Leu931Arg)
c.3755T>G (p.Leu1252Arg)
1g.197090228A>GCA344001674ASPMn.3084T>C
c.9797T>C (p.Leu3266Pro)
c.10019T>C (p.Leu3340Pro)
c.9773T>C (p.Leu3258Pro)
c.5042T>C (p.Leu1681Pro)
c.2792T>C (p.Leu931Pro)
c.3755T>C (p.Leu1252Pro)
1g.197090228A>TCA344001675ASPMn.3084T>A
c.9797T>A (p.Leu3266His)
c.10019T>A (p.Leu3340His)
c.9773T>A (p.Leu3258His)
c.5042T>A (p.Leu1681His)
c.2792T>A (p.Leu931His)
c.3755T>A (p.Leu1252His)
1g.197090229G>ACA344001676ASPMn.3083C>T
c.9796C>T (p.Leu3266Phe)
c.10018C>T (p.Leu3340Phe)
c.9772C>T (p.Leu3258Phe)
c.5041C>T (p.Leu1681Phe)
c.2791C>T (p.Leu931Phe)
c.3754C>T (p.Leu1252Phe)
1g.197090229G>CCA344001677ASPMn.3083C>G
c.9796C>G (p.Leu3266Val)
c.10018C>G (p.Leu3340Val)
c.9772C>G (p.Leu3258Val)
c.5041C>G (p.Leu1681Val)
c.2791C>G (p.Leu931Val)
c.3754C>G (p.Leu1252Val)
1g.197090229G=CA1217925149ASPMn.3083C=
c.9796C= (p.Leu3266=)
c.10018C= (p.Leu3340=)
c.9772C= (p.Leu3258=)
c.5041C= (p.Leu1681=)
c.2791C= (p.Leu931=)
c.3754C= (p.Leu1252=)
1g.197090229G>TCA344001678ASPMn.3083C>A
c.9796C>A (p.Leu3266Ile)
c.10018C>A (p.Leu3340Ile)
c.9772C>A (p.Leu3258Ile)
c.5041C>A (p.Leu1681Ile)
c.2791C>A (p.Leu931Ile)
c.3754C>A (p.Leu1252Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.197090230G>ACA422805168ASPMn.3082C>T
c.9795C>T (p.His3265=)
c.10017C>T (p.His3339=)
c.9771C>T (p.His3257=)
c.5040C>T (p.His1680=)
c.2790C>T (p.His930=)
c.3753C>T (p.His1251=)
1g.197090230G>CCA344001679ASPMn.3082C>G
c.9795C>G (p.His3265Gln)
c.10017C>G (p.His3339Gln)
c.9771C>G (p.His3257Gln)
c.5040C>G (p.His1680Gln)
c.2790C>G (p.His930Gln)
c.3753C>G (p.His1251Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.197090230G=CA1217925152ASPMn.3082C=
c.9795C= (p.His3265=)
c.10017C= (p.His3339=)
c.9771C= (p.His3257=)
c.5040C= (p.His1680=)
c.2790C= (p.His930=)
c.3753C= (p.His1251=)
1g.197090230G>TCA344001680ASPMn.3082C>A
c.9795C>A (p.His3265Gln)
c.10017C>A (p.His3339Gln)
c.9771C>A (p.His3257Gln)
c.5040C>A (p.His1680Gln)
c.2790C>A (p.His930Gln)
c.3753C>A (p.His1251Gln)
 gnomAD v4
1g.197090231T>ACA344001681ASPMn.3081A>T
c.9794A>T (p.His3265Leu)
c.10016A>T (p.His3339Leu)
c.9770A>T (p.His3257Leu)
c.5039A>T (p.His1680Leu)
c.2789A>T (p.His930Leu)
c.3752A>T (p.His1251Leu)
1g.197090231T>CCA344001682ASPMn.3081A>G
c.9794A>G (p.His3265Arg)
c.10016A>G (p.His3339Arg)
c.9770A>G (p.His3257Arg)
c.5039A>G (p.His1680Arg)
c.2789A>G (p.His930Arg)
c.3752A>G (p.His1251Arg)
1g.197090231T>GCA344001683ASPMn.3081A>C
c.9794A>C (p.His3265Pro)
c.10016A>C (p.His3339Pro)
c.9770A>C (p.His3257Pro)
c.5039A>C (p.His1680Pro)
c.2789A>C (p.His930Pro)
c.3752A>C (p.His1251Pro)
1g.197090232G>ACA344001684ASPMn.3080C>T
c.9793C>T (p.His3265Tyr)
c.10015C>T (p.His3339Tyr)
c.9769C>T (p.His3257Tyr)
c.5038C>T (p.His1680Tyr)
c.2788C>T (p.His930Tyr)
c.3751C>T (p.His1251Tyr)
1g.197090232G>CCA344001686ASPMn.3080C>G
c.9793C>G (p.His3265Asp)
c.10015C>G (p.His3339Asp)
c.9769C>G (p.His3257Asp)
c.5038C>G (p.His1680Asp)
c.2788C>G (p.His930Asp)
c.3751C>G (p.His1251Asp)
1g.197090232G>TCA344001685ASPMn.3080C>A
c.9793C>A (p.His3265Asn)
c.10015C>A (p.His3339Asn)
c.9769C>A (p.His3257Asn)
c.5038C>A (p.His1680Asn)
c.2788C>A (p.His930Asn)
c.3751C>A (p.His1251Asn)
1g.197090233C>ACA344001687ASPMn.3079G>T
c.9792G>T (p.Lys3264Asn)
c.10014G>T (p.Lys3338Asn)
c.9768G>T (p.Lys3256Asn)
c.5037G>T (p.Lys1679Asn)
c.2787G>T (p.Lys929Asn)
c.3750G>T (p.Lys1250Asn)
1g.197090233C>GCA344001688ASPMn.3079G>C
c.9792G>C (p.Lys3264Asn)
c.10014G>C (p.Lys3338Asn)
c.9768G>C (p.Lys3256Asn)
c.5037G>C (p.Lys1679Asn)
c.2787G>C (p.Lys929Asn)
c.3750G>C (p.Lys1250Asn)
1g.197090233C>TCA422805187ASPMn.3079G>A
c.9792G>A (p.Lys3264=)
c.10014G>A (p.Lys3338=)
c.9768G>A (p.Lys3256=)
c.5037G>A (p.Lys1679=)
c.2787G>A (p.Lys929=)
c.3750G>A (p.Lys1250=)
 gnomAD v4
1g.197090234T>ACA344001689ASPMn.3078A>T
c.9791A>T (p.Lys3264Met)
c.10013A>T (p.Lys3338Met)
c.9767A>T (p.Lys3256Met)
c.5036A>T (p.Lys1679Met)
c.2786A>T (p.Lys929Met)
c.3749A>T (p.Lys1250Met)
1g.197090234T>CCA344001690ASPMn.3078A>G
c.9791A>G (p.Lys3264Arg)
c.10013A>G (p.Lys3338Arg)
c.9767A>G (p.Lys3256Arg)
c.5036A>G (p.Lys1679Arg)
c.2786A>G (p.Lys929Arg)
c.3749A>G (p.Lys1250Arg)
1g.197090234T>GCA344001691ASPMn.3078A>C
c.9791A>C (p.Lys3264Thr)
c.10013A>C (p.Lys3338Thr)
c.9767A>C (p.Lys3256Thr)
c.5036A>C (p.Lys1679Thr)
c.2786A>C (p.Lys929Thr)
c.3749A>C (p.Lys1250Thr)
1g.197090235T>ACA344001692ASPMn.3077A>T
c.9790A>T (p.Lys3264Ter)
c.10012A>T (p.Lys3338Ter)
c.9766A>T (p.Lys3256Ter)
c.5035A>T (p.Lys1679Ter)
c.2785A>T (p.Lys929Ter)
c.3748A>T (p.Lys1250Ter)
1g.197090235T>CCA344001693ASPMn.3077A>G
c.9790A>G (p.Lys3264Glu)
c.10012A>G (p.Lys3338Glu)
c.9766A>G (p.Lys3256Glu)
c.5035A>G (p.Lys1679Glu)
c.2785A>G (p.Lys929Glu)
c.3748A>G (p.Lys1250Glu)
 gnomAD v4
1g.197090235T>GCA344001694ASPMn.3077A>C
c.9790A>C (p.Lys3264Gln)
c.10012A>C (p.Lys3338Gln)
c.9766A>C (p.Lys3256Gln)
c.5035A>C (p.Lys1679Gln)
c.2785A>C (p.Lys929Gln)
c.3748A>C (p.Lys1250Gln)
1g.197090236A=CA1143355782ASPMn.3076T=
c.9789T= (p.Tyr3263=)
c.10011T= (p.Tyr3337=)
c.9765T= (p.Tyr3255=)
c.5034T= (p.Tyr1678=)
c.2784T= (p.Tyr928=)
c.3747T= (p.Tyr1249=)
1g.197090236A>CCA344001695ASPMn.3076T>G
c.9789T>G (p.Tyr3263Ter)
c.10011T>G (p.Tyr3337Ter)
c.9765T>G (p.Tyr3255Ter)
c.5034T>G (p.Tyr1678Ter)
c.2784T>G (p.Tyr928Ter)
c.3747T>G (p.Tyr1249Ter)
 ClinVar dbSNP
1g.197090236A>GCA35861944ASPMn.3076T>C
c.9789T>C (p.Tyr3263=)
c.10011T>C (p.Tyr3337=)
c.9765T>C (p.Tyr3255=)
c.5034T>C (p.Tyr1678=)
c.2784T>C (p.Tyr928=)
c.3747T>C (p.Tyr1249=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.197090236A>TCA342313ASPMn.3076T>A
c.9789T>A (p.Tyr3263Ter)
c.10011T>A (p.Tyr3337Ter)
c.9765T>A (p.Tyr3255Ter)
c.5034T>A (p.Tyr1678Ter)
c.2784T>A (p.Tyr928Ter)
c.3747T>A (p.Tyr1249Ter)
 ClinVar dbSNP gnomAD v4
1g.197090237T>ACA344001696ASPMn.3075A>T
c.9788A>T (p.Tyr3263Phe)
c.10010A>T (p.Tyr3337Phe)
c.9764A>T (p.Tyr3255Phe)
c.5033A>T (p.Tyr1678Phe)
c.2783A>T (p.Tyr928Phe)
c.3746A>T (p.Tyr1249Phe)
1g.197090237T>CCA344001697ASPMn.3075A>G
c.9788A>G (p.Tyr3263Cys)
c.10010A>G (p.Tyr3337Cys)
c.9764A>G (p.Tyr3255Cys)
c.5033A>G (p.Tyr1678Cys)
c.2783A>G (p.Tyr928Cys)
c.3746A>G (p.Tyr1249Cys)
1g.197090237T>GCA344001698ASPMn.3075A>C
c.9788A>C (p.Tyr3263Ser)
c.10010A>C (p.Tyr3337Ser)
c.9764A>C (p.Tyr3255Ser)
c.5033A>C (p.Tyr1678Ser)
c.2783A>C (p.Tyr928Ser)
c.3746A>C (p.Tyr1249Ser)
1g.197090238A>CCA344001699ASPMn.3074T>G
c.9787T>G (p.Tyr3263Asp)
c.10009T>G (p.Tyr3337Asp)
c.9763T>G (p.Tyr3255Asp)
c.5032T>G (p.Tyr1678Asp)
c.2782T>G (p.Tyr928Asp)
c.3745T>G (p.Tyr1249Asp)
 gnomAD v4
1g.197090238A>GCA344001701ASPMn.3074T>C
c.9787T>C (p.Tyr3263His)
c.10009T>C (p.Tyr3337His)
c.9763T>C (p.Tyr3255His)
c.5032T>C (p.Tyr1678His)
c.2782T>C (p.Tyr928His)
c.3745T>C (p.Tyr1249His)
 gnomAD v4
1g.197090238A>TCA344001700ASPMn.3074T>A
c.9787T>A (p.Tyr3263Asn)
c.10009T>A (p.Tyr3337Asn)
c.9763T>A (p.Tyr3255Asn)
c.5032T>A (p.Tyr1678Asn)
c.2782T>A (p.Tyr928Asn)
c.3745T>A (p.Tyr1249Asn)
 COSMIC
1g.197090239T>ACA422805218ASPMn.3073A>T
c.9786A>T (p.Thr3262=)
c.10008A>T (p.Thr3336=)
c.9762A>T (p.Thr3254=)
c.5031A>T (p.Thr1677=)
c.2781A>T (p.Thr927=)
c.3744A>T (p.Thr1248=)
1g.197090239T>CCA422805223ASPMn.3073A>G
c.9786A>G (p.Thr3262=)
c.10008A>G (p.Thr3336=)
c.9762A>G (p.Thr3254=)
c.5031A>G (p.Thr1677=)
c.2781A>G (p.Thr927=)
c.3744A>G (p.Thr1248=)
 gnomAD v4
1g.197090239T>GCA422805224ASPMn.3073A>C
c.9786A>C (p.Thr3262=)
c.10008A>C (p.Thr3336=)
c.9762A>C (p.Thr3254=)
c.5031A>C (p.Thr1677=)
c.2781A>C (p.Thr927=)
c.3744A>C (p.Thr1248=)
1g.197090240G>ACA344001702ASPMn.3072C>T
c.9785C>T (p.Thr3262Ile)
c.10007C>T (p.Thr3336Ile)
c.9761C>T (p.Thr3254Ile)
c.5030C>T (p.Thr1677Ile)
c.2780C>T (p.Thr927Ile)
c.3743C>T (p.Thr1248Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.197090240G>CCA344001703ASPMn.3072C>G
c.9785C>G (p.Thr3262Arg)
c.10007C>G (p.Thr3336Arg)
c.9761C>G (p.Thr3254Arg)
c.5030C>G (p.Thr1677Arg)
c.2780C>G (p.Thr927Arg)
c.3743C>G (p.Thr1248Arg)
1g.197090240G=CA1217925159ASPMn.3072C=
c.9785C= (p.Thr3262=)
c.10007C= (p.Thr3336=)
c.9761C= (p.Thr3254=)
c.5030C= (p.Thr1677=)
c.2780C= (p.Thr927=)
c.3743C= (p.Thr1248=)
1g.197090240G>TCA344001704ASPMn.3072C>A
c.9785C>A (p.Thr3262Lys)
c.10007C>A (p.Thr3336Lys)
c.9761C>A (p.Thr3254Lys)
c.5030C>A (p.Thr1677Lys)
c.2780C>A (p.Thr927Lys)
c.3743C>A (p.Thr1248Lys)
1g.197090241T>ACA344001705ASPMn.3071A>T
c.9784A>T (p.Thr3262Ser)
c.10006A>T (p.Thr3336Ser)
c.9760A>T (p.Thr3254Ser)
c.5029A>T (p.Thr1677Ser)
c.2779A>T (p.Thr927Ser)
c.3742A>T (p.Thr1248Ser)
 gnomAD v4
1g.197090241T>CCA344001706ASPMn.3071A>G
c.9784A>G (p.Thr3262Ala)
c.10006A>G (p.Thr3336Ala)
c.9760A>G (p.Thr3254Ala)
c.5029A>G (p.Thr1677Ala)
c.2779A>G (p.Thr927Ala)
c.3742A>G (p.Thr1248Ala)
1g.197090241T>GCA344001707ASPMn.3071A>C
c.9784A>C (p.Thr3262Pro)
c.10006A>C (p.Thr3336Pro)
c.9760A>C (p.Thr3254Pro)
c.5029A>C (p.Thr1677Pro)
c.2779A>C (p.Thr927Pro)
c.3742A>C (p.Thr1248Pro)
1g.197090242C>ACA344001708ASPMn.3070G>T
c.9783G>T (p.Leu3261Phe)
c.10005G>T (p.Leu3335Phe)
c.9759G>T (p.Leu3253Phe)
c.5028G>T (p.Leu1676Phe)
c.2778G>T (p.Leu926Phe)
c.3741G>T (p.Leu1247Phe)
1g.197090242C>GCA344001709ASPMn.3070G>C
c.9783G>C (p.Leu3261Phe)
c.10005G>C (p.Leu3335Phe)
c.9759G>C (p.Leu3253Phe)
c.5028G>C (p.Leu1676Phe)
c.2778G>C (p.Leu926Phe)
c.3741G>C (p.Leu1247Phe)
 gnomAD v4
1g.197090242C>TCA422805235ASPMn.3070G>A
c.9783G>A (p.Leu3261=)
c.10005G>A (p.Leu3335=)
c.9759G>A (p.Leu3253=)
c.5028G>A (p.Leu1676=)
c.2778G>A (p.Leu926=)
c.3741G>A (p.Leu1247=)
1g.197090243A>CCA344001710ASPMn.3069T>G
c.9782T>G (p.Leu3261Trp)
c.10004T>G (p.Leu3335Trp)
c.9758T>G (p.Leu3253Trp)
c.5027T>G (p.Leu1676Trp)
c.2777T>G (p.Leu926Trp)
c.3740T>G (p.Leu1247Trp)
1g.197090243A>GCA344001711ASPMn.3069T>C
c.9782T>C (p.Leu3261Ser)
c.10004T>C (p.Leu3335Ser)
c.9758T>C (p.Leu3253Ser)
c.5027T>C (p.Leu1676Ser)
c.2777T>C (p.Leu926Ser)
c.3740T>C (p.Leu1247Ser)
1g.197090243A>TCA344001712ASPMn.3069T>A
c.9782T>A (p.Leu3261Ter)
c.10004T>A (p.Leu3335Ter)
c.9758T>A (p.Leu3253Ter)
c.5027T>A (p.Leu1676Ter)
c.2777T>A (p.Leu926Ter)
c.3740T>A (p.Leu1247Ter)
1g.197090244A=CA1149113437ASPMn.3068T=
c.9781T= (p.Leu3261=)
c.10003T= (p.Leu3335=)
c.9757T= (p.Leu3253=)
c.5026T= (p.Leu1676=)
c.2776T= (p.Leu926=)
c.3739T= (p.Leu1247=)
1g.197090244A>CCA1308865ASPMn.3068T>G
c.9781T>G (p.Leu3261Val)
c.10003T>G (p.Leu3335Val)
c.9757T>G (p.Leu3253Val)
c.5026T>G (p.Leu1676Val)
c.2776T>G (p.Leu926Val)
c.3739T>G (p.Leu1247Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090244A>GCA422805243ASPMn.3068T>C
c.9781T>C (p.Leu3261=)
c.10003T>C (p.Leu3335=)
c.9757T>C (p.Leu3253=)
c.5026T>C (p.Leu1676=)
c.2776T>C (p.Leu926=)
c.3739T>C (p.Leu1247=)
1g.197090244A>TCA344001713ASPMn.3068T>A
c.9781T>A (p.Leu3261Met)
c.10003T>A (p.Leu3335Met)
c.9757T>A (p.Leu3253Met)
c.5026T>A (p.Leu1676Met)
c.2776T>A (p.Leu926Met)
c.3739T>A (p.Leu1247Met)
1g.197090245A=CA1217925164ASPMn.3067T=
c.9780T= (p.Leu3260=)
c.10002T= (p.Leu3334=)
c.9756T= (p.Leu3252=)
c.5025T= (p.Leu1675=)
c.2775T= (p.Leu925=)
c.3738T= (p.Leu1246=)
1g.197090245A>CCA422805244ASPMn.3067T>G
c.9780T>G (p.Leu3260=)
c.10002T>G (p.Leu3334=)
c.9756T>G (p.Leu3252=)
c.5025T>G (p.Leu1675=)
c.2775T>G (p.Leu925=)
c.3738T>G (p.Leu1246=)
 dbSNP gnomAD v2 gnomAD v4
1g.197090245A>GCA422805245ASPMn.3067T>C
c.9780T>C (p.Leu3260=)
c.10002T>C (p.Leu3334=)
c.9756T>C (p.Leu3252=)
c.5025T>C (p.Leu1675=)
c.2775T>C (p.Leu925=)
c.3738T>C (p.Leu1246=)
1g.197090245A>TCA422805247ASPMn.3067T>A
c.9780T>A (p.Leu3260=)
c.10002T>A (p.Leu3334=)
c.9756T>A (p.Leu3252=)
c.5025T>A (p.Leu1675=)
c.2775T>A (p.Leu925=)
c.3738T>A (p.Leu1246=)
1g.197090246A>CCA344001714ASPMn.3066T>G
c.9779T>G (p.Leu3260Arg)
c.10001T>G (p.Leu3334Arg)
c.9755T>G (p.Leu3252Arg)
c.5024T>G (p.Leu1675Arg)
c.2774T>G (p.Leu925Arg)
c.3737T>G (p.Leu1246Arg)
1g.197090246A>GCA344001716ASPMn.3066T>C
c.9779T>C (p.Leu3260Pro)
c.10001T>C (p.Leu3334Pro)
c.9755T>C (p.Leu3252Pro)
c.5024T>C (p.Leu1675Pro)
c.2774T>C (p.Leu925Pro)
c.3737T>C (p.Leu1246Pro)
1g.197090246A>TCA344001715ASPMn.3066T>A
c.9779T>A (p.Leu3260His)
c.10001T>A (p.Leu3334His)
c.9755T>A (p.Leu3252His)
c.5024T>A (p.Leu1675His)
c.2774T>A (p.Leu925His)
c.3737T>A (p.Leu1246His)
1g.197090247G>ACA344001717ASPMn.3065C>T
c.9778C>T (p.Leu3260Phe)
c.10000C>T (p.Leu3334Phe)
c.9754C>T (p.Leu3252Phe)
c.5023C>T (p.Leu1675Phe)
c.2773C>T (p.Leu925Phe)
c.3736C>T (p.Leu1246Phe)
 gnomAD v4
1g.197090247G>CCA344001718ASPMn.3065C>G
c.9778C>G (p.Leu3260Val)
c.10000C>G (p.Leu3334Val)
c.9754C>G (p.Leu3252Val)
c.5023C>G (p.Leu1675Val)
c.2773C>G (p.Leu925Val)
c.3736C>G (p.Leu1246Val)
1g.197090247G>TCA344001719ASPMn.3065C>A
c.9778C>A (p.Leu3260Ile)
c.10000C>A (p.Leu3334Ile)
c.9754C>A (p.Leu3252Ile)
c.5023C>A (p.Leu1675Ile)
c.2773C>A (p.Leu925Ile)
c.3736C>A (p.Leu1246Ile)
1g.197090248G>ACA422805251ASPMn.3064C>T
c.9777C>T (p.Tyr3259=)
c.9999C>T (p.Tyr3333=)
c.9753C>T (p.Tyr3251=)
c.5022C>T (p.Tyr1674=)
c.2772C>T (p.Tyr924=)
c.3735C>T (p.Tyr1245=)
1g.197090248G>CCA344001720ASPMn.3064C>G
c.9777C>G (p.Tyr3259Ter)
c.9999C>G (p.Tyr3333Ter)
c.9753C>G (p.Tyr3251Ter)
c.5022C>G (p.Tyr1674Ter)
c.2772C>G (p.Tyr924Ter)
c.3735C>G (p.Tyr1245Ter)
1g.197090248G>TCA344001721ASPMn.3064C>A
c.9777C>A (p.Tyr3259Ter)
c.9999C>A (p.Tyr3333Ter)
c.9753C>A (p.Tyr3251Ter)
c.5022C>A (p.Tyr1674Ter)
c.2772C>A (p.Tyr924Ter)
c.3735C>A (p.Tyr1245Ter)
1g.197090249T>ACA344001722ASPMn.3063A>T
c.9776A>T (p.Tyr3259Phe)
c.9998A>T (p.Tyr3333Phe)
c.9752A>T (p.Tyr3251Phe)
c.5021A>T (p.Tyr1674Phe)
c.2771A>T (p.Tyr924Phe)
c.3734A>T (p.Tyr1245Phe)
1g.197090249T>CCA35861945ASPMn.3063A>G
c.9776A>G (p.Tyr3259Cys)
c.9998A>G (p.Tyr3333Cys)
c.9752A>G (p.Tyr3251Cys)
c.5021A>G (p.Tyr1674Cys)
c.2771A>G (p.Tyr924Cys)
c.3734A>G (p.Tyr1245Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.197090249T>GCA344001723ASPMn.3063A>C
c.9776A>C (p.Tyr3259Ser)
c.9998A>C (p.Tyr3333Ser)
c.9752A>C (p.Tyr3251Ser)
c.5021A>C (p.Tyr1674Ser)
c.2771A>C (p.Tyr924Ser)
c.3734A>C (p.Tyr1245Ser)
1g.197090249T=CA1217925166ASPMn.3063A=
c.9776A= (p.Tyr3259=)
c.9998A= (p.Tyr3333=)
c.9752A= (p.Tyr3251=)
c.5021A= (p.Tyr1674=)
c.2771A= (p.Tyr924=)
c.3734A= (p.Tyr1245=)
1g.197090250A>CCA344001724ASPMn.3062T>G
c.9775T>G (p.Tyr3259Asp)
c.9997T>G (p.Tyr3333Asp)
c.9751T>G (p.Tyr3251Asp)
c.5020T>G (p.Tyr1674Asp)
c.2770T>G (p.Tyr924Asp)
c.3733T>G (p.Tyr1245Asp)
1g.197090250A>GCA344001725ASPMn.3062T>C
c.9775T>C (p.Tyr3259His)
c.9997T>C (p.Tyr3333His)
c.9751T>C (p.Tyr3251His)
c.5020T>C (p.Tyr1674His)
c.2770T>C (p.Tyr924His)
c.3733T>C (p.Tyr1245His)
1g.197090250A>TCA344001726ASPMn.3062T>A
c.9775T>A (p.Tyr3259Asn)
c.9997T>A (p.Tyr3333Asn)
c.9751T>A (p.Tyr3251Asn)
c.5020T>A (p.Tyr1674Asn)
c.2770T>A (p.Tyr924Asn)
c.3733T>A (p.Tyr1245Asn)
1g.197090250_197090251insGTTTTTCATTTTCA2558727805ASPMn.3061_3062insAAAATGAAAAAC
c.9774_9775insAAAATGAAAAAC (p.His3258_Tyr3259insLysMetLysAsn)
c.9996_9997insAAAATGAAAAAC (p.His3332_Tyr3333insLysMetLysAsn)
c.9750_9751insAAAATGAAAAAC (p.His3250_Tyr3251insLysMetLysAsn)
c.5019_5020insAAAATGAAAAAC (p.His1673_Tyr1674insLysMetLysAsn)
c.2769_2770insAAAATGAAAAAC (p.His923_Tyr924insLysMetLysAsn)
c.3732_3733insAAAATGAAAAAC (p.His1244_Tyr1245insLysMetLysAsn)
1g.197090251A>CCA344001727ASPMn.3061T>G
c.9774T>G (p.His3258Gln)
c.9996T>G (p.His3332Gln)
c.9750T>G (p.His3250Gln)
c.5019T>G (p.His1673Gln)
c.2769T>G (p.His923Gln)
c.3732T>G (p.His1244Gln)
1g.197090251A>GCA422805260ASPMn.3061T>C
c.9774T>C (p.His3258=)
c.9996T>C (p.His3332=)
c.9750T>C (p.His3250=)
c.5019T>C (p.His1673=)
c.2769T>C (p.His923=)
c.3732T>C (p.His1244=)
 gnomAD v4
1g.197090251A>TCA344001728ASPMn.3061T>A
c.9774T>A (p.His3258Gln)
c.9996T>A (p.His3332Gln)
c.9750T>A (p.His3250Gln)
c.5019T>A (p.His1673Gln)
c.2769T>A (p.His923Gln)
c.3732T>A (p.His1244Gln)
 COSMIC
1g.197090252T>ACA344001729ASPMn.3060A>T
c.9773A>T (p.His3258Leu)
c.9995A>T (p.His3332Leu)
c.9749A>T (p.His3250Leu)
c.5018A>T (p.His1673Leu)
c.2768A>T (p.His923Leu)
c.3731A>T (p.His1244Leu)
1g.197090252T>CCA171281ASPMn.3060A>G
c.9773A>G (p.His3258Arg)
c.9995A>G (p.His3332Arg)
c.9749A>G (p.His3250Arg)
c.5018A>G (p.His1673Arg)
c.2768A>G (p.His923Arg)
c.3731A>G (p.His1244Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090252T>GCA35861951ASPMn.3060A>C
c.9773A>C (p.His3258Pro)
c.9995A>C (p.His3332Pro)
c.9749A>C (p.His3250Pro)
c.5018A>C (p.His1673Pro)
c.2768A>C (p.His923Pro)
c.3731A>C (p.His1244Pro)
 dbSNP
1g.197090252T=CA1140137432ASPMn.3060A=
c.9773A= (p.His3258=)
c.9995A= (p.His3332=)
c.9749A= (p.His3250=)
c.5018A= (p.His1673=)
c.2768A= (p.His923=)
c.3731A= (p.His1244=)
1g.197090253G>ACA344001730ASPMn.3059C>T
c.9772C>T (p.His3258Tyr)
c.9994C>T (p.His3332Tyr)
c.9748C>T (p.His3250Tyr)
c.5017C>T (p.His1673Tyr)
c.2767C>T (p.His923Tyr)
c.3730C>T (p.His1244Tyr)
 dbSNP gnomAD v4
1g.197090253G>CCA344001731ASPMn.3059C>G
c.9772C>G (p.His3258Asp)
c.9994C>G (p.His3332Asp)
c.9748C>G (p.His3250Asp)
c.5017C>G (p.His1673Asp)
c.2767C>G (p.His923Asp)
c.3730C>G (p.His1244Asp)
1g.197090253G=CA1217925176ASPMn.3059C=
c.9772C= (p.His3258=)
c.9994C= (p.His3332=)
c.9748C= (p.His3250=)
c.5017C= (p.His1673=)
c.2767C= (p.His923=)
c.3730C= (p.His1244=)
1g.197090253G>TCA344001732ASPMn.3059C>A
c.9772C>A (p.His3258Asn)
c.9994C>A (p.His3332Asn)
c.9748C>A (p.His3250Asn)
c.5017C>A (p.His1673Asn)
c.2767C>A (p.His923Asn)
c.3730C>A (p.His1244Asn)
 gnomAD v3 gnomAD v4
1g.197090254A>CCA422805272ASPMn.3058T>G
c.9771T>G (p.Leu3257=)
c.9993T>G (p.Leu3331=)
c.9747T>G (p.Leu3249=)
c.5016T>G (p.Leu1672=)
c.2766T>G (p.Leu922=)
c.3729T>G (p.Leu1243=)
1g.197090254A>GCA422805267ASPMn.3058T>C
c.9771T>C (p.Leu3257=)
c.9993T>C (p.Leu3331=)
c.9747T>C (p.Leu3249=)
c.5016T>C (p.Leu1672=)
c.2766T>C (p.Leu922=)
c.3729T>C (p.Leu1243=)
1g.197090254A>TCA422805269ASPMn.3058T>A
c.9771T>A (p.Leu3257=)
c.9993T>A (p.Leu3331=)
c.9747T>A (p.Leu3249=)
c.5016T>A (p.Leu1672=)
c.2766T>A (p.Leu922=)
c.3729T>A (p.Leu1243=)
1g.197090255A=CA1217925177ASPMn.3057T=
c.9770T= (p.Leu3257=)
c.9992T= (p.Leu3331=)
c.9746T= (p.Leu3249=)
c.5015T= (p.Leu1672=)
c.2765T= (p.Leu922=)
c.3728T= (p.Leu1243=)
1g.197090255A>CCA344001733ASPMn.3057T>G
c.9770T>G (p.Leu3257Arg)
c.9992T>G (p.Leu3331Arg)
c.9746T>G (p.Leu3249Arg)
c.5015T>G (p.Leu1672Arg)
c.2765T>G (p.Leu922Arg)
c.3728T>G (p.Leu1243Arg)
1g.197090255A>GCA344001734ASPMn.3057T>C
c.9770T>C (p.Leu3257Pro)
c.9992T>C (p.Leu3331Pro)
c.9746T>C (p.Leu3249Pro)
c.5015T>C (p.Leu1672Pro)
c.2765T>C (p.Leu922Pro)
c.3728T>C (p.Leu1243Pro)
1g.197090255A>TCA344001735ASPMn.3057T>A
c.9770T>A (p.Leu3257His)
c.9992T>A (p.Leu3331His)
c.9746T>A (p.Leu3249His)
c.5015T>A (p.Leu1672His)
c.2765T>A (p.Leu922His)
c.3728T>A (p.Leu1243His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197090255_197090258delCA2649660638ASPMn.3054_3057del
c.9767_9770del (p.Ala3256ValfsTer5)
c.9989_9992del (p.Ala3330ValfsTer5)
c.9743_9746del (p.Ala3248ValfsTer5)
c.5012_5015del (p.Ala1671ValfsTer5)
c.2762_2765del (p.Ala921ValfsTer5)
c.3725_3728del (p.Ala1242ValfsTer5)
 gnomAD v4
1g.197090256G>ACA344001736ASPMn.3056C>T
c.9769C>T (p.Leu3257Phe)
c.9991C>T (p.Leu3331Phe)
c.9745C>T (p.Leu3249Phe)
c.5014C>T (p.Leu1672Phe)
c.2764C>T (p.Leu922Phe)
c.3727C>T (p.Leu1243Phe)
 dbSNP
1g.197090256G>CCA344001737ASPMn.3056C>G
c.9769C>G (p.Leu3257Val)
c.9991C>G (p.Leu3331Val)
c.9745C>G (p.Leu3249Val)
c.5014C>G (p.Leu1672Val)
c.2764C>G (p.Leu922Val)
c.3727C>G (p.Leu1243Val)
1g.197090256G=CA1217925180ASPMn.3056C=
c.9769C= (p.Leu3257=)
c.9991C= (p.Leu3331=)
c.9745C= (p.Leu3249=)
c.5014C= (p.Leu1672=)
c.2764C= (p.Leu922=)
c.3727C= (p.Leu1243=)
1g.197090256G>TCA344001738ASPMn.3056C>A
c.9769C>A (p.Leu3257Ile)
c.9991C>A (p.Leu3331Ile)
c.9745C>A (p.Leu3249Ile)
c.5014C>A (p.Leu1672Ile)
c.2764C>A (p.Leu922Ile)
c.3727C>A (p.Leu1243Ile)
1g.197090257T>ACA422805277ASPMn.3055A>T
c.9768A>T (p.Ala3256=)
c.9990A>T (p.Ala3330=)
c.9744A>T (p.Ala3248=)
c.5013A>T (p.Ala1671=)
c.2763A>T (p.Ala921=)
c.3726A>T (p.Ala1242=)
1g.197090257T>CCA422805278ASPMn.3055A>G
c.9768A>G (p.Ala3256=)
c.9990A>G (p.Ala3330=)
c.9744A>G (p.Ala3248=)
c.5013A>G (p.Ala1671=)
c.2763A>G (p.Ala921=)
c.3726A>G (p.Ala1242=)
1g.197090257T>GCA1308866ASPMn.3055A>C
c.9768A>C (p.Ala3256=)
c.9990A>C (p.Ala3330=)
c.9744A>C (p.Ala3248=)
c.5013A>C (p.Ala1671=)
c.2763A>C (p.Ala921=)
c.3726A>C (p.Ala1242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090257T=CA1217925182ASPMn.3055A=
c.9768A= (p.Ala3256=)
c.9990A= (p.Ala3330=)
c.9744A= (p.Ala3248=)
c.5013A= (p.Ala1671=)
c.2763A= (p.Ala921=)
c.3726A= (p.Ala1242=)
1g.197090258G>ACA344001741ASPMn.3054C>T
c.9767C>T (p.Ala3256Val)
c.9989C>T (p.Ala3330Val)
c.9743C>T (p.Ala3248Val)
c.5012C>T (p.Ala1671Val)
c.2762C>T (p.Ala921Val)
c.3725C>T (p.Ala1242Val)
 gnomAD v4
1g.197090258G>CCA344001740ASPMn.3054C>G
c.9767C>G (p.Ala3256Gly)
c.9989C>G (p.Ala3330Gly)
c.9743C>G (p.Ala3248Gly)
c.5012C>G (p.Ala1671Gly)
c.2762C>G (p.Ala921Gly)
c.3725C>G (p.Ala1242Gly)
 gnomAD v4
1g.197090258G>TCA344001739ASPMn.3054C>A
c.9767C>A (p.Ala3256Glu)
c.9989C>A (p.Ala3330Glu)
c.9743C>A (p.Ala3248Glu)
c.5012C>A (p.Ala1671Glu)
c.2762C>A (p.Ala921Glu)
c.3725C>A (p.Ala1242Glu)
1g.197090259C>ACA344001742ASPMn.3053G>T
c.9766G>T (p.Ala3256Ser)
c.9988G>T (p.Ala3330Ser)
c.9742G>T (p.Ala3248Ser)
c.5011G>T (p.Ala1671Ser)
c.2761G>T (p.Ala921Ser)
c.3724G>T (p.Ala1242Ser)
1g.197090259C=CA1148879276ASPMn.3053G=
c.9766G= (p.Ala3256=)
c.9988G= (p.Ala3330=)
c.9742G= (p.Ala3248=)
c.5011G= (p.Ala1671=)
c.2761G= (p.Ala921=)
c.3724G= (p.Ala1242=)
1g.197090259C>GCA344001743ASPMn.3053G>C
c.9766G>C (p.Ala3256Pro)
c.9988G>C (p.Ala3330Pro)
c.9742G>C (p.Ala3248Pro)
c.5011G>C (p.Ala1671Pro)
c.2761G>C (p.Ala921Pro)
c.3724G>C (p.Ala1242Pro)
1g.197090259C>TCA1308867ASPMn.3053G>A
c.9766G>A (p.Ala3256Thr)
c.9988G>A (p.Ala3330Thr)
c.9742G>A (p.Ala3248Thr)
c.5011G>A (p.Ala1671Thr)
c.2761G>A (p.Ala921Thr)
c.3724G>A (p.Ala1242Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197090260A>CCA422805284ASPMn.3052T>G
c.9765T>G (p.Leu3255=)
c.9987T>G (p.Leu3329=)
c.9741T>G (p.Leu3247=)
c.5010T>G (p.Leu1670=)
c.2760T>G (p.Leu920=)
c.3723T>G (p.Leu1241=)
1g.197090260A>GCA422805285ASPMn.3052T>C
c.9765T>C (p.Leu3255=)
c.9987T>C (p.Leu3329=)
c.9741T>C (p.Leu3247=)
c.5010T>C (p.Leu1670=)
c.2760T>C (p.Leu920=)
c.3723T>C (p.Leu1241=)
1g.197090260A>TCA422805286ASPMn.3052T>A
c.9765T>A (p.Leu3255=)
c.9987T>A (p.Leu3329=)
c.9741T>A (p.Leu3247=)
c.5010T>A (p.Leu1670=)
c.2760T>A (p.Leu920=)
c.3723T>A (p.Leu1241=)
1g.197090260_197090261dupCA2649660639ASPMn.3051_3052dup
c.9764_9765dup (p.Ala3256LeufsTer7)
c.9986_9987dup (p.Ala3330LeufsTer7)
c.9740_9741dup (p.Ala3248LeufsTer7)
c.5009_5010dup (p.Ala1671LeufsTer7)
c.2759_2760dup (p.Ala921LeufsTer7)
c.3722_3723dup (p.Ala1242LeufsTer7)
 gnomAD v4
1g.197090261A>CCA344001744ASPMn.3051T>G
c.9764T>G (p.Leu3255Arg)
c.9986T>G (p.Leu3329Arg)
c.9740T>G (p.Leu3247Arg)
c.5009T>G (p.Leu1670Arg)
c.2759T>G (p.Leu920Arg)
c.3722T>G (p.Leu1241Arg)
1g.197090261A>GCA344001745ASPMn.3051T>C
c.9764T>C (p.Leu3255Pro)
c.9986T>C (p.Leu3329Pro)
c.9740T>C (p.Leu3247Pro)
c.5009T>C (p.Leu1670Pro)
c.2759T>C (p.Leu920Pro)
c.3722T>C (p.Leu1241Pro)
1g.197090261A>TCA344001746ASPMn.3051T>A
c.9764T>A (p.Leu3255His)
c.9986T>A (p.Leu3329His)
c.9740T>A (p.Leu3247His)
c.5009T>A (p.Leu1670His)
c.2759T>A (p.Leu920His)
c.3722T>A (p.Leu1241His)
1g.197090261_197090262delinsAGCA1217925186ASPMn.3050_3051delinsCT
c.9763_9764delinsCT (p.Leu3255=)
c.9985_9986delinsCT (p.Leu3329=)
c.9739_9740delinsCT (p.Leu3247=)
c.5008_5009delinsCT (p.Leu1670=)
c.2758_2759delinsCT (p.Leu920=)
c.3721_3722delinsCT (p.Leu1241=)
1g.197090262delCA35861957ASPMn.3050del
c.9763del (p.Ala3256HisfsTer6)
c.9985del (p.Ala3330HisfsTer6)
c.9739del (p.Ala3248HisfsTer6)
c.5008del (p.Ala1671HisfsTer6)
c.2758del (p.Ala921HisfsTer6)
c.3721del (p.Ala1242HisfsTer6)
 dbSNP
1g.197090262G>ACA1308868ASPMn.3050C>T
c.9763C>T (p.Leu3255Phe)
c.9985C>T (p.Leu3329Phe)
c.9739C>T (p.Leu3247Phe)
c.5008C>T (p.Leu1670Phe)
c.2758C>T (p.Leu920Phe)
c.3721C>T (p.Leu1241Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197090262G>CCA344001747ASPMn.3050C>G
c.9763C>G (p.Leu3255Val)
c.9985C>G (p.Leu3329Val)
c.9739C>G (p.Leu3247Val)
c.5008C>G (p.Leu1670Val)
c.2758C>G (p.Leu920Val)
c.3721C>G (p.Leu1241Val)
 gnomAD v4
1g.197090262G=CA1142387261ASPMn.3050C=
c.9763C= (p.Leu3255=)
c.9985C= (p.Leu3329=)
c.9739C= (p.Leu3247=)
c.5008C= (p.Leu1670=)
c.2758C= (p.Leu920=)
c.3721C= (p.Leu1241=)
1g.197090262G>TCA344001748ASPMn.3050C>A
c.9763C>A (p.Leu3255Ile)
c.9985C>A (p.Leu3329Ile)
c.9739C>A (p.Leu3247Ile)
c.5008C>A (p.Leu1670Ile)
c.2758C>A (p.Leu920Ile)
c.3721C>A (p.Leu1241Ile)

Number of alleles fetched