Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.165069055_165069058delinsCATTCA1417381952SIc.373+20_373+23delinsAATG (n.373+20_373+23delinsAATG)
c.*248+20_*248+23delinsAATG (n.*248+20_*248+23delinsAATG)
c.274+20_274+23delinsAATG (n.274+20_274+23delinsAATG)
3g.165069058_165069060delCA917056237SIc.373+20_373+22del (n.373+20_373+22del)
c.*248+20_*248+22del (n.*248+20_*248+22del)
c.274+20_274+22del (n.274+20_274+22del)
 dbSNP gnomAD v4
3g.165069058T>CCA547856440SIc.373+20A>G (n.373+20A>G)
c.*248+20A>G (n.*248+20A>G)
c.274+20A>G (n.274+20A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.165069058T=CA1417381956SIc.373+20A= (n.373+20A=)
c.*248+20A= (n.*248+20A=)
c.274+20A= (n.274+20A=)
3g.165069059A=CA1417381957SIc.373+19T= (n.373+19T=)
c.*248+19T= (n.*248+19T=)
c.274+19T= (n.274+19T=)
3g.165069059A>CCA2704351555SIc.373+19T>G (n.373+19T>G)
c.*248+19T>G (n.*248+19T>G)
c.274+19T>G (n.274+19T>G)
 dbSNP
3g.165069059A>GCA2691530SIc.373+19T>C (n.373+19T>C)
c.*248+19T>C (n.*248+19T>C)
c.274+19T>C (n.274+19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069059A>TCA547856441SIc.373+19T>A (n.373+19T>A)
c.*248+19T>A (n.*248+19T>A)
c.274+19T>A (n.274+19T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.165069059_165069060insCCA2668425542SIc.373+18_373+19insG (n.373+18_373+19insG)
c.*248+18_*248+19insG (n.*248+18_*248+19insG)
c.274+18_274+19insG (n.274+18_274+19insG)
 gnomAD v4
3g.165069060_165069061insCCA2668425543SIc.373+17_373+18insG (n.373+17_373+18insG)
c.*248+17_*248+18insG (n.*248+17_*248+18insG)
c.274+17_274+18insG (n.274+17_274+18insG)
 gnomAD v4
3g.165069063_165069064delCA2668425544SIc.373+15_373+16del (n.373+15_373+16del)
c.*248+15_*248+16del (n.*248+15_*248+16del)
c.274+15_274+16del (n.274+15_274+16del)
 gnomAD v4
3g.165069063C>ACA2668425545SIc.373+15G>T (n.373+15G>T)
c.*248+15G>T (n.*248+15G>T)
c.274+15G>T (n.274+15G>T)
 gnomAD v4
3g.165069063C=CA1417381958SIc.373+15G= (n.373+15G=)
c.*248+15G= (n.*248+15G=)
c.274+15G= (n.274+15G=)
3g.165069063C>GCA2668425546SIc.373+15G>C (n.373+15G>C)
c.*248+15G>C (n.*248+15G>C)
c.274+15G>C (n.274+15G>C)
 gnomAD v4
3g.165069063C>TCA86497766SIc.373+15G>A (n.373+15G>A)
c.*248+15G>A (n.*248+15G>A)
c.274+15G>A (n.274+15G>A)
 dbSNP
3g.165069064A=CA1417381961SIc.373+14T= (n.373+14T=)
c.*248+14T= (n.*248+14T=)
c.274+14T= (n.274+14T=)
3g.165069064A>GCA547856442SIc.373+14T>C (n.373+14T>C)
c.*248+14T>C (n.*248+14T>C)
c.274+14T>C (n.274+14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.165069065G>CCA2668425547SIc.373+13C>G (n.373+13C>G)
c.*248+13C>G (n.*248+13C>G)
c.274+13C>G (n.274+13C>G)
 gnomAD v4
3g.165069066A=CA1417381966SIc.373+12T= (n.373+12T=)
c.*248+12T= (n.*248+12T=)
c.274+12T= (n.274+12T=)
3g.165069066A>GCA1417381967SIc.373+12T>C (n.373+12T>C)
c.*248+12T>C (n.*248+12T>C)
c.274+12T>C (n.274+12T>C)
 dbSNP
3g.165069067G>ACA2691531SIc.373+11C>T (n.373+11C>T)
c.*248+11C>T (n.*248+11C>T)
c.274+11C>T (n.274+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069067G=CA1417381971SIc.373+11C= (n.373+11C=)
c.*248+11C= (n.*248+11C=)
c.274+11C= (n.274+11C=)
3g.165069067G>TCA2577951459SIc.373+11C>A (n.373+11C>A)
c.*248+11C>A (n.*248+11C>A)
c.274+11C>A (n.274+11C>A)
 gnomAD v4
3g.165069068G>ACA2691532SIc.373+10C>T (n.373+10C>T)
c.*248+10C>T (n.*248+10C>T)
c.274+10C>T (n.274+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069068G=CA1417381980SIc.373+10C= (n.373+10C=)
c.*248+10C= (n.*248+10C=)
c.274+10C= (n.274+10C=)
3g.165069068G>TCA2499216576SIc.373+10C>A (n.373+10C>A)
c.*248+10C>A (n.*248+10C>A)
c.274+10C>A (n.274+10C>A)
 ClinVar dbSNP gnomAD v4
3g.165069071T>CCA2577951460SIc.373+7A>G (n.373+7A>G)
c.*248+7A>G (n.*248+7A>G)
c.274+7A>G (n.274+7A>G)
 gnomAD v4
3g.165069071T>GCA2668425548SIc.373+7A>C (n.373+7A>C)
c.*248+7A>C (n.*248+7A>C)
c.274+7A>C (n.274+7A>C)
 gnomAD v4
3g.165069072T>GCA2691533SIc.373+6A>C (n.373+6A>C)
c.*248+6A>C (n.*248+6A>C)
c.274+6A>C (n.274+6A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069072T=CA1417381985SIc.373+6A= (n.373+6A=)
c.*248+6A= (n.*248+6A=)
c.274+6A= (n.274+6A=)
3g.165069073delCA2577951461SIc.373+5del (n.373+5del)
c.*248+5del (n.*248+5del)
c.274+5del (n.274+5del)
3g.165069074T>CCA2668425549SIc.373+4A>G (n.373+4A>G)
c.*248+4A>G (n.*248+4A>G)
c.274+4A>G (n.274+4A>G)
 gnomAD v4
3g.165069075T>CCA2668425550SIc.373+3A>G (n.373+3A>G)
c.*248+3A>G (n.*248+3A>G)
c.274+3A>G (n.274+3A>G)
 gnomAD v4
3g.165069076A=CA1417381989SIc.373+2T= (n.373+2T=)
c.*248+2T= (n.*248+2T=)
c.274+2T= (n.274+2T=)
3g.165069076A>CCA355035170SIc.373+2T>G (n.373+2T>G)
c.*248+2T>G (n.*248+2T>G)
c.274+2T>G (n.274+2T>G)
 dbSNP
3g.165069076A>GCA355035174SIc.373+2T>C (n.373+2T>C)
c.*248+2T>C (n.*248+2T>C)
c.274+2T>C (n.274+2T>C)
 gnomAD v4
3g.165069076A>TCA355035176SIc.373+2T>A (n.373+2T>A)
c.*248+2T>A (n.*248+2T>A)
c.274+2T>A (n.274+2T>A)
3g.165069077C>ACA355035184SIc.373+1G>T (n.373+1G>T)
c.*248+1G>T (n.*248+1G>T)
c.274+1G>T (n.274+1G>T)
3g.165069077C=CA1417381991SIc.373+1G= (n.373+1G=)
c.*248+1G= (n.*248+1G=)
c.274+1G= (n.274+1G=)
3g.165069077C>GCA355035179SIc.373+1G>C (n.373+1G>C)
c.*248+1G>C (n.*248+1G>C)
c.274+1G>C (n.274+1G>C)
3g.165069077C>TCA2691534SIc.373+1G>A (n.373+1G>A)
c.*248+1G>A (n.*248+1G>A)
c.274+1G>A (n.274+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069078C>ACA355035186SIc.373G>T (p.Gly125Ter)
c.*248G>T (n.*248G>T)
c.274G>T (p.Gly92Ter)
3g.165069078C>GCA355035188SIc.373G>C (p.Gly125Arg)
c.*248G>C (n.*248G>C)
c.274G>C (p.Gly92Arg)
3g.165069078C>TCA355035200SIc.373G>A (p.Gly125Arg)
c.*248G>A (n.*248G>A)
c.274G>A (p.Gly92Arg)
3g.165069079A=CA1417381996SIc.372T= (p.Ile124=)
c.*247T= (n.*247T=)
c.273T= (p.Ile91=)
3g.165069079A>CCA355035203SIc.372T>G (p.Ile124Met)
c.*247T>G (n.*247T>G)
c.273T>G (p.Ile91Met)
3g.165069079A>GCA436947763SIc.372T>C (p.Ile124=)
c.*247T>C (n.*247T>C)
c.273T>C (p.Ile91=)
 gnomAD v4
3g.165069079A>TCA86497771SIc.372T>A (p.Ile124=)
c.*247T>A (n.*247T>A)
c.273T>A (p.Ile91=)
 dbSNP
3g.165069080A=CA1417381999SIc.371T= (p.Ile124=)
c.*246T= (n.*246T=)
c.272T= (p.Ile91=)
3g.165069080A>CCA355035205SIc.371T>G (p.Ile124Ser)
c.*246T>G (n.*246T>G)
c.272T>G (p.Ile91Ser)
 gnomAD v4
3g.165069080A>GCA86497779SIc.371T>C (p.Ile124Thr)
c.*246T>C (n.*246T>C)
c.272T>C (p.Ile91Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.165069080A>TCA355035206SIc.371T>A (p.Ile124Asn)
c.*246T>A (n.*246T>A)
c.272T>A (p.Ile91Asn)
3g.165069081T>ACA355035209SIc.370A>T (p.Ile124Phe)
c.*245A>T (n.*245A>T)
c.271A>T (p.Ile91Phe)
3g.165069081T>CCA86497793SIc.370A>G (p.Ile124Val)
c.*245A>G (n.*245A>G)
c.271A>G (p.Ile91Val)
 dbSNP gnomAD v3 gnomAD v4
3g.165069081T>GCA355035213SIc.370A>C (p.Ile124Leu)
c.*245A>C (n.*245A>C)
c.271A>C (p.Ile91Leu)
3g.165069081T=CA1417382001SIc.370A= (p.Ile124=)
c.*245A= (n.*245A=)
c.271A= (p.Ile91=)
3g.165069082A=CA1417382004SIc.369T= (p.Ser123=)
c.*244T= (n.*244T=)
c.270T= (p.Ser90=)
3g.165069082A>CCA355035217SIc.369T>G (p.Ser123Arg)
c.*244T>G (n.*244T>G)
c.270T>G (p.Ser90Arg)
3g.165069082A>GCA2691535SIc.369T>C (p.Ser123=)
c.*244T>C (n.*244T>C)
c.270T>C (p.Ser90=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069082A>TCA355035221SIc.369T>A (p.Ser123Arg)
c.*244T>A (n.*244T>A)
c.270T>A (p.Ser90Arg)
3g.165069083C>ACA355035225SIc.368G>T (p.Ser123Ile)
c.*243G>T (n.*243G>T)
c.269G>T (p.Ser90Ile)
 dbSNP
3g.165069083C>GCA355035226SIc.368G>C (p.Ser123Thr)
c.*243G>C (n.*243G>C)
c.269G>C (p.Ser90Thr)
 gnomAD v4
3g.165069083C>TCA355035229SIc.368G>A (p.Ser123Asn)
c.*243G>A (n.*243G>A)
c.269G>A (p.Ser90Asn)
 gnomAD v4
3g.165069083_165069086delinsCTTGCA1417382007SIc.365_368delinsCAAG (p.Thr122=)
c.*240_*243delinsCAAG (n.*240_*243delinsCAAG)
c.266_269delinsCAAG (p.Thr89=)
3g.165069084T>ACA355035241SIc.367A>T (p.Ser123Cys)
c.*242A>T (n.*242A>T)
c.268A>T (p.Ser90Cys)
3g.165069084T>CCA355035243SIc.367A>G (p.Ser123Gly)
c.*242A>G (n.*242A>G)
c.268A>G (p.Ser90Gly)
3g.165069084T>GCA355035237SIc.367A>C (p.Ser123Arg)
c.*242A>C (n.*242A>C)
c.268A>C (p.Ser90Arg)
3g.165069091_165069093delCA2691536SIc.365_367del (p.Thr122del)
c.*240_*242del (n.*240_*242del)
c.266_268del (p.Thr89del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069085T>ACA436947764SIc.366A>T (p.Thr122=)
c.*241A>T (n.*241A>T)
c.267A>T (p.Thr89=)
3g.165069085T>CCA436947765SIc.366A>G (p.Thr122=)
c.*241A>G (n.*241A>G)
c.267A>G (p.Thr89=)
 ClinVar gnomAD v4
3g.165069085T>GCA436947766SIc.366A>C (p.Thr122=)
c.*241A>C (n.*241A>C)
c.267A>C (p.Thr89=)
 gnomAD v4
3g.165069086delCA2668425551SIc.365del (p.Thr122LysfsTer9)
c.*240del (n.*240del)
c.266del (p.Thr89LysfsTer9)
 gnomAD v4
3g.165069086G>ACA355035249SIc.365C>T (p.Thr122Ile)
c.*240C>T (n.*240C>T)
c.266C>T (p.Thr89Ile)
3g.165069086G>CCA355035247SIc.365C>G (p.Thr122Arg)
c.*240C>G (n.*240C>G)
c.266C>G (p.Thr89Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.165069086G=CA1417382014SIc.365C= (p.Thr122=)
c.*240C= (n.*240C=)
c.266C= (p.Thr89=)
3g.165069086G>TCA2691537SIc.365C>A (p.Thr122Lys)
c.*240C>A (n.*240C>A)
c.266C>A (p.Thr89Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069087T>ACA355035255SIc.364A>T (p.Thr122Ser)
c.*239A>T (n.*239A>T)
c.265A>T (p.Thr89Ser)
3g.165069087T>CCA2691538SIc.364A>G (p.Thr122Ala)
c.*239A>G (n.*239A>G)
c.265A>G (p.Thr89Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069087T>GCA355035258SIc.364A>C (p.Thr122Pro)
c.*239A>C (n.*239A>C)
c.265A>C (p.Thr89Pro)
3g.165069087T=CA1417382018SIc.364A= (p.Thr122=)
c.*239A= (n.*239A=)
c.265A= (p.Thr89=)
3g.165069088T>ACA436947769SIc.363A>T (p.Thr121=)
c.*238A>T (n.*238A>T)
c.264A>T (p.Thr88=)
3g.165069088T>CCA436947767SIc.363A>G (p.Thr121=)
c.*238A>G (n.*238A>G)
c.264A>G (p.Thr88=)
 gnomAD v4
3g.165069088T>GCA436947768SIc.363A>C (p.Thr121=)
c.*238A>C (n.*238A>C)
c.264A>C (p.Thr88=)
3g.165069089G>ACA355035263SIc.362C>T (p.Thr121Ile)
c.*237C>T (n.*237C>T)
c.263C>T (p.Thr88Ile)
3g.165069089G>CCA355035266SIc.362C>G (p.Thr121Arg)
c.*237C>G (n.*237C>G)
c.263C>G (p.Thr88Arg)
3g.165069089G>TCA355035268SIc.362C>A (p.Thr121Lys)
c.*237C>A (n.*237C>A)
c.263C>A (p.Thr88Lys)
3g.165069090T>ACA355035271SIc.361A>T (p.Thr121Ser)
c.*236A>T (n.*236A>T)
c.262A>T (p.Thr88Ser)
 dbSNP
3g.165069090T>CCA355035273SIc.361A>G (p.Thr121Ala)
c.*236A>G (n.*236A>G)
c.262A>G (p.Thr88Ala)
3g.165069090T>GCA355035276SIc.361A>C (p.Thr121Pro)
c.*236A>C (n.*236A>C)
c.262A>C (p.Thr88Pro)
3g.165069090T=CA1417382024SIc.361A= (p.Thr121=)
c.*236A= (n.*236A=)
c.262A= (p.Thr88=)
3g.165069091T>ACA436947770SIc.360A>T (p.Thr120=)
c.*235A>T (n.*235A>T)
c.261A>T (p.Thr87=)
3g.165069091T>CCA436947771SIc.360A>G (p.Thr120=)
c.*235A>G (n.*235A>G)
c.261A>G (p.Thr87=)
3g.165069091T>GCA436947772SIc.360A>C (p.Thr120=)
c.*235A>C (n.*235A>C)
c.261A>C (p.Thr87=)
3g.165069092G>ACA355035279SIc.359C>T (p.Thr120Ile)
c.*234C>T (n.*234C>T)
c.260C>T (p.Thr87Ile)
 gnomAD v4
3g.165069092G>CCA355035280SIc.359C>G (p.Thr120Arg)
c.*234C>G (n.*234C>G)
c.260C>G (p.Thr87Arg)
3g.165069092G>TCA355035281SIc.359C>A (p.Thr120Lys)
c.*234C>A (n.*234C>A)
c.260C>A (p.Thr87Lys)
 gnomAD v4
3g.165069093T>ACA355035283SIc.358A>T (p.Thr120Ser)
c.*233A>T (n.*233A>T)
c.259A>T (p.Thr87Ser)
3g.165069093T>CCA355035284SIc.358A>G (p.Thr120Ala)
c.*233A>G (n.*233A>G)
c.259A>G (p.Thr87Ala)
 dbSNP gnomAD v4
3g.165069093T>GCA355035285SIc.358A>C (p.Thr120Pro)
c.*233A>C (n.*233A>C)
c.259A>C (p.Thr87Pro)
3g.165069093T=CA1417382028SIc.358A= (p.Thr120=)
c.*233A= (n.*233A=)
c.259A= (p.Thr87=)
3g.165069094C>ACA355035293SIc.357G>T (p.Met119Ile)
c.*232G>T (n.*232G>T)
c.258G>T (p.Met86Ile)
 COSMIC
3g.165069094C=CA1417382033SIc.357G= (p.Met119=)
c.*232G= (n.*232G=)
c.258G= (p.Met86=)
3g.165069094C>GCA86497827SIc.357G>C (p.Met119Ile)
c.*232G>C (n.*232G>C)
c.258G>C (p.Met86Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.165069094C>TCA355035290SIc.357G>A (p.Met119Ile)
c.*232G>A (n.*232G>A)
c.258G>A (p.Met86Ile)
 COSMIC
3g.165069095A=CA1417382039SIc.356T= (p.Met119=)
c.*231T= (n.*231T=)
c.257T= (p.Met86=)
3g.165069095A>CCA355035297SIc.356T>G (p.Met119Arg)
c.*231T>G (n.*231T>G)
c.257T>G (p.Met86Arg)
3g.165069095A>GCA355035299SIc.356T>C (p.Met119Thr)
c.*231T>C (n.*231T>C)
c.257T>C (p.Met86Thr)
 dbSNP gnomAD v4 COSMIC
3g.165069095A>TCA355035302SIc.356T>A (p.Met119Lys)
c.*231T>A (n.*231T>A)
c.257T>A (p.Met86Lys)
3g.165069096T>ACA2691539SIc.355A>T (p.Met119Leu)
c.*230A>T (n.*230A>T)
c.256A>T (p.Met86Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069096T>CCA355035306SIc.355A>G (p.Met119Val)
c.*230A>G (n.*230A>G)
c.256A>G (p.Met86Val)
 gnomAD v4
3g.165069096T>GCA355035308SIc.355A>C (p.Met119Leu)
c.*230A>C (n.*230A>C)
c.256A>C (p.Met86Leu)
3g.165069096T=CA1417382045SIc.355A= (p.Met119=)
c.*230A= (n.*230A=)
c.256A= (p.Met86=)
3g.165069097G>ACA436947773SIc.354C>T (p.Asp118=)
c.*229C>T (n.*229C>T)
c.255C>T (p.Asp85=)
3g.165069097G>CCA355035312SIc.354C>G (p.Asp118Glu)
c.*229C>G (n.*229C>G)
c.255C>G (p.Asp85Glu)
3g.165069097G>TCA355035314SIc.354C>A (p.Asp118Glu)
c.*229C>A (n.*229C>A)
c.255C>A (p.Asp85Glu)
3g.165069098T>ACA355035315SIc.353A>T (p.Asp118Val)
c.*228A>T (n.*228A>T)
c.254A>T (p.Asp85Val)
3g.165069098T>CCA355035317SIc.353A>G (p.Asp118Gly)
c.*228A>G (n.*228A>G)
c.254A>G (p.Asp85Gly)
3g.165069098T>GCA355035319SIc.353A>C (p.Asp118Ala)
c.*228A>C (n.*228A>C)
c.254A>C (p.Asp85Ala)
3g.165069099C>ACA355035325SIc.352G>T (p.Asp118Tyr)
c.*227G>T (n.*227G>T)
c.253G>T (p.Asp85Tyr)
 COSMIC
3g.165069099C>GCA355035323SIc.352G>C (p.Asp118His)
c.*227G>C (n.*227G>C)
c.253G>C (p.Asp85His)
3g.165069099C>TCA355035322SIc.352G>A (p.Asp118Asn)
c.*227G>A (n.*227G>A)
c.253G>A (p.Asp85Asn)
3g.165069100T>ACA355035327SIc.351A>T (p.Gln117His)
c.*226A>T (n.*226A>T)
c.252A>T (p.Gln84His)
3g.165069100T>CCA436947774SIc.351A>G (p.Gln117=)
c.*226A>G (n.*226A>G)
c.252A>G (p.Gln84=)
3g.165069100T>GCA355035328SIc.351A>C (p.Gln117His)
c.*226A>C (n.*226A>C)
c.252A>C (p.Gln84His)
 gnomAD v4
3g.165069101T>ACA355035333SIc.350A>T (p.Gln117Leu)
c.*225A>T (n.*225A>T)
c.251A>T (p.Gln84Leu)
3g.165069101T>CCA115001SIc.350A>G (p.Gln117Arg)
c.*225A>G (n.*225A>G)
c.251A>G (p.Gln84Arg)
 ClinVar dbSNP
3g.165069101T>GCA355035337SIc.350A>C (p.Gln117Pro)
c.*225A>C (n.*225A>C)
c.251A>C (p.Gln84Pro)
3g.165069101T=CA1417382048SIc.350A= (p.Gln117=)
c.*225A= (n.*225A=)
c.251A= (p.Gln84=)
3g.165069102G>ACA355035342SIc.349C>T (p.Gln117Ter)
c.*224C>T (n.*224C>T)
c.250C>T (p.Gln84Ter)
3g.165069102G>CCA355035345SIc.349C>G (p.Gln117Glu)
c.*224C>G (n.*224C>G)
c.250C>G (p.Gln84Glu)
 dbSNP gnomAD v4
3g.165069102G=CA1417382061SIc.349C= (p.Gln117=)
c.*224C= (n.*224C=)
c.250C= (p.Gln84=)
3g.165069102G>TCA355035347SIc.349C>A (p.Gln117Lys)
c.*224C>A (n.*224C>A)
c.250C>A (p.Gln84Lys)
3g.165069103A>CCA436947775SIc.348T>G (p.Val116=)
c.*223T>G (n.*223T>G)
c.249T>G (p.Val83=)
3g.165069103A>GCA436947776SIc.348T>C (p.Val116=)
c.*223T>C (n.*223T>C)
c.249T>C (p.Val83=)
 gnomAD v4
3g.165069103A>TCA436947777SIc.348T>A (p.Val116=)
c.*223T>A (n.*223T>A)
c.249T>A (p.Val83=)
3g.165069104A>CCA355035351SIc.347T>G (p.Val116Gly)
c.*222T>G (n.*222T>G)
c.248T>G (p.Val83Gly)
3g.165069104A>GCA355035354SIc.347T>C (p.Val116Ala)
c.*222T>C (n.*222T>C)
c.248T>C (p.Val83Ala)
3g.165069104A>TCA355035357SIc.347T>A (p.Val116Asp)
c.*222T>A (n.*222T>A)
c.248T>A (p.Val83Asp)
3g.165069105C>ACA355035361SIc.346G>T (p.Val116Phe)
c.*221G>T (n.*221G>T)
c.247G>T (p.Val83Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.165069105C=CA1417382072SIc.346G= (p.Val116=)
c.*221G= (n.*221G=)
c.247G= (p.Val83=)
3g.165069105C>GCA355035364SIc.346G>C (p.Val116Leu)
c.*221G>C (n.*221G>C)
c.247G>C (p.Val83Leu)
3g.165069105C>TCA355035365SIc.346G>A (p.Val116Ile)
c.*221G>A (n.*221G>A)
c.247G>A (p.Val83Ile)
 COSMIC COSMIC
3g.165069106G>ACA436947778SIc.345C>T (p.Asn115=)
c.*220C>T (n.*220C>T)
c.246C>T (p.Asn82=)
 dbSNP gnomAD v3 gnomAD v4
3g.165069106G>CCA355035368SIc.345C>G (p.Asn115Lys)
c.*220C>G (n.*220C>G)
c.246C>G (p.Asn82Lys)
3g.165069106G=CA1417382077SIc.345C= (p.Asn115=)
c.*220C= (n.*220C=)
c.246C= (p.Asn82=)
3g.165069106G>TCA355035371SIc.345C>A (p.Asn115Lys)
c.*220C>A (n.*220C>A)
c.246C>A (p.Asn82Lys)
 gnomAD v4
3g.165069107T>ACA355035374SIc.344A>T (p.Asn115Ile)
c.*219A>T (n.*219A>T)
c.245A>T (p.Asn82Ile)
3g.165069107T>CCA355035377SIc.344A>G (p.Asn115Ser)
c.*219A>G (n.*219A>G)
c.245A>G (p.Asn82Ser)
3g.165069107T>GCA355035380SIc.344A>C (p.Asn115Thr)
c.*219A>C (n.*219A>C)
c.245A>C (p.Asn82Thr)
3g.165069108T>ACA355035383SIc.343A>T (p.Asn115Tyr)
c.*218A>T (n.*218A>T)
c.244A>T (p.Asn82Tyr)
3g.165069108T>CCA355035385SIc.343A>G (p.Asn115Asp)
c.*218A>G (n.*218A>G)
c.244A>G (p.Asn82Asp)
 dbSNP
3g.165069108T>GCA355035388SIc.343A>C (p.Asn115His)
c.*218A>C (n.*218A>C)
c.244A>C (p.Asn82His)
3g.165069108T=CA1417382084SIc.343A= (p.Asn115=)
c.*218A= (n.*218A=)
c.244A= (p.Asn82=)
3g.165069109A=CA1417382091SIc.342T= (p.Tyr114=)
c.*217T= (n.*217T=)
c.243T= (p.Tyr81=)
3g.165069109A>CCA355035391SIc.342T>G (p.Tyr114Ter)
c.*217T>G (n.*217T>G)
c.243T>G (p.Tyr81Ter)
3g.165069109A>GCA2691540SIc.342T>C (p.Tyr114=)
c.*217T>C (n.*217T>C)
c.243T>C (p.Tyr81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069109A>TCA355035394SIc.342T>A (p.Tyr114Ter)
c.*217T>A (n.*217T>A)
c.243T>A (p.Tyr81Ter)
3g.165069110T>ACA355035399SIc.341A>T (p.Tyr114Phe)
c.*216A>T (n.*216A>T)
c.242A>T (p.Tyr81Phe)
3g.165069110T>CCA355035401SIc.341A>G (p.Tyr114Cys)
c.*216A>G (n.*216A>G)
c.242A>G (p.Tyr81Cys)
3g.165069110T>GCA355035403SIc.341A>C (p.Tyr114Ser)
c.*216A>C (n.*216A>C)
c.242A>C (p.Tyr81Ser)
3g.165069111A>CCA355035411SIc.340T>G (p.Tyr114Asp)
c.*215T>G (n.*215T>G)
c.241T>G (p.Tyr81Asp)
3g.165069111A>GCA355035408SIc.340T>C (p.Tyr114His)
c.*215T>C (n.*215T>C)
c.241T>C (p.Tyr81His)
3g.165069111A>TCA355035406SIc.340T>A (p.Tyr114Asn)
c.*215T>A (n.*215T>A)
c.241T>A (p.Tyr81Asn)
3g.165069112A>CCA436947779SIc.339T>G (p.Gly113=)
c.*214T>G (n.*214T>G)
c.240T>G (p.Gly80=)
3g.165069112A>GCA436947780SIc.339T>C (p.Gly113=)
c.*214T>C (n.*214T>C)
c.240T>C (p.Gly80=)
3g.165069112A>TCA436947781SIc.339T>A (p.Gly113=)
c.*214T>A (n.*214T>A)
c.240T>A (p.Gly80=)
3g.165069113C>ACA355035420SIc.338G>T (p.Gly113Val)
c.*213G>T (n.*213G>T)
c.239G>T (p.Gly80Val)
 gnomAD v4
3g.165069113C>GCA355035415SIc.338G>C (p.Gly113Ala)
c.*213G>C (n.*213G>C)
c.239G>C (p.Gly80Ala)
3g.165069113C>TCA355035417SIc.338G>A (p.Gly113Asp)
c.*213G>A (n.*213G>A)
c.239G>A (p.Gly80Asp)
3g.165069114C>ACA355035423SIc.337G>T (p.Gly113Cys)
c.*212G>T (n.*212G>T)
c.238G>T (p.Gly80Cys)
3g.165069114C=CA1417382093SIc.337G= (p.Gly113=)
c.*212G= (n.*212G=)
c.238G= (p.Gly80=)
3g.165069114C>GCA2691541SIc.337G>C (p.Gly113Arg)
c.*212G>C (n.*212G>C)
c.238G>C (p.Gly80Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069114C>TCA355035427SIc.337G>A (p.Gly113Ser)
c.*212G>A (n.*212G>A)
c.238G>A (p.Gly80Ser)
3g.165069115A>CCA355035429SIc.336T>G (p.His112Gln)
c.*211T>G (n.*211T>G)
c.237T>G (p.His79Gln)
3g.165069115A>GCA436947782SIc.336T>C (p.His112=)
c.*211T>C (n.*211T>C)
c.237T>C (p.His79=)
 gnomAD v4
3g.165069115A>TCA355035432SIc.336T>A (p.His112Gln)
c.*211T>A (n.*211T>A)
c.237T>A (p.His79Gln)
3g.165069116T>ACA355035441SIc.335A>T (p.His112Leu)
c.*210A>T (n.*210A>T)
c.236A>T (p.His79Leu)
 ClinVar gnomAD v4
3g.165069116T>CCA355035436SIc.335A>G (p.His112Arg)
c.*210A>G (n.*210A>G)
c.236A>G (p.His79Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.165069116T>GCA355035438SIc.335A>C (p.His112Pro)
c.*210A>C (n.*210A>C)
c.236A>C (p.His79Pro)
3g.165069116T=CA1417382098SIc.335A= (p.His112=)
c.*210A= (n.*210A=)
c.236A= (p.His79=)
3g.165069117G>ACA355035444SIc.334C>T (p.His112Tyr)
c.*209C>T (n.*209C>T)
c.235C>T (p.His79Tyr)
3g.165069117G>CCA355035446SIc.334C>G (p.His112Asp)
c.*209C>G (n.*209C>G)
c.235C>G (p.His79Asp)
3g.165069117G=CA1417382103SIc.334C= (p.His112=)
c.*209C= (n.*209C=)
c.235C= (p.His79=)
3g.165069117G>TCA2691542SIc.334C>A (p.His112Asn)
c.*209C>A (n.*209C>A)
c.235C>A (p.His79Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069118A=CA1417382105SIc.333T= (p.Asn111=)
c.*208T= (n.*208T=)
c.234T= (p.Asn78=)
3g.165069118A>CCA355035461SIc.333T>G (p.Asn111Lys)
c.*208T>G (n.*208T>G)
c.234T>G (p.Asn78Lys)
3g.165069118A>GCA436947783SIc.333T>C (p.Asn111=)
c.*208T>C (n.*208T>C)
c.234T>C (p.Asn78=)
3g.165069118A>TCA355035464SIc.333T>A (p.Asn111Lys)
c.*208T>A (n.*208T>A)
c.234T>A (p.Asn78Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.165069119T>ACA355035467SIc.332A>T (p.Asn111Ile)
c.*207A>T (n.*207A>T)
c.233A>T (p.Asn78Ile)
3g.165069119T>CCA2691543SIc.332A>G (p.Asn111Ser)
c.*207A>G (n.*207A>G)
c.233A>G (p.Asn78Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069119T>GCA355035471SIc.332A>C (p.Asn111Thr)
c.*207A>C (n.*207A>C)
c.233A>C (p.Asn78Thr)
 gnomAD v4
3g.165069119T=CA1417382108SIc.332A= (p.Asn111=)
c.*207A= (n.*207A=)
c.233A= (p.Asn78=)
3g.165069120T>ACA355035476SIc.331A>T (p.Asn111Tyr)
c.*206A>T (n.*206A>T)
c.232A>T (p.Asn78Tyr)
3g.165069120T>CCA355035480SIc.331A>G (p.Asn111Asp)
c.*206A>G (n.*206A>G)
c.232A>G (p.Asn78Asp)
3g.165069120T>GCA355035481SIc.331A>C (p.Asn111His)
c.*206A>C (n.*206A>C)
c.232A>C (p.Asn78His)
3g.165069121A=CA1417382109SIc.330T= (p.Asp110=)
c.*205T= (n.*205T=)
c.231T= (p.Asp77=)
3g.165069121A>CCA355035484SIc.330T>G (p.Asp110Glu)
c.*205T>G (n.*205T>G)
c.231T>G (p.Asp77Glu)
3g.165069121A>GCA2691544SIc.330T>C (p.Asp110=)
c.*205T>C (n.*205T>C)
c.231T>C (p.Asp77=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069121A>TCA355035489SIc.330T>A (p.Asp110Glu)
c.*205T>A (n.*205T>A)
c.231T>A (p.Asp77Glu)
3g.165069122T>ACA355035493SIc.329A>T (p.Asp110Val)
c.*204A>T (n.*204A>T)
c.230A>T (p.Asp77Val)
3g.165069122T>CCA355035496SIc.329A>G (p.Asp110Gly)
c.*204A>G (n.*204A>G)
c.230A>G (p.Asp77Gly)
3g.165069122T>GCA355035499SIc.329A>C (p.Asp110Ala)
c.*204A>C (n.*204A>C)
c.230A>C (p.Asp77Ala)
3g.165069123C>ACA86497867SIc.328G>T (p.Asp110Tyr)
c.*203G>T (n.*203G>T)
c.229G>T (p.Asp77Tyr)
 dbSNP gnomAD v4
3g.165069123C=CA1417382113SIc.328G= (p.Asp110=)
c.*203G= (n.*203G=)
c.229G= (p.Asp77=)
3g.165069123C>GCA355035505SIc.328G>C (p.Asp110His)
c.*203G>C (n.*203G>C)
c.229G>C (p.Asp77His)
3g.165069123C>TCA355035508SIc.328G>A (p.Asp110Asn)
c.*203G>A (n.*203G>A)
c.229G>A (p.Asp77Asn)
 gnomAD v4
3g.165069124A>CCA436947784SIc.327T>G (p.Val109=)
c.*202T>G (n.*202T>G)
c.228T>G (p.Val76=)
3g.165069124A>GCA436947785SIc.327T>C (p.Val109=)
c.*202T>C (n.*202T>C)
c.228T>C (p.Val76=)
3g.165069124A>TCA436947786SIc.327T>A (p.Val109=)
c.*202T>A (n.*202T>A)
c.228T>A (p.Val76=)
3g.165069125A>CCA355035511SIc.326T>G (p.Val109Gly)
c.*201T>G (n.*201T>G)
c.227T>G (p.Val76Gly)
3g.165069125A>GCA355035525SIc.326T>C (p.Val109Ala)
c.*201T>C (n.*201T>C)
c.227T>C (p.Val76Ala)
 gnomAD v4
3g.165069125A>TCA355035524SIc.326T>A (p.Val109Asp)
c.*201T>A (n.*201T>A)
c.227T>A (p.Val76Asp)
3g.165069126C>ACA2691546SIc.325G>T (p.Val109Phe)
c.*200G>T (n.*200G>T)
c.226G>T (p.Val76Phe)
 dbSNP ExAC gnomAD v4
3g.165069126C=CA1417382119SIc.325G= (p.Val109=)
c.*200G= (n.*200G=)
c.226G= (p.Val76=)
3g.165069126C>GCA355035531SIc.325G>C (p.Val109Leu)
c.*200G>C (n.*200G>C)
c.226G>C (p.Val76Leu)
3g.165069126C>TCA2691545SIc.325G>A (p.Val109Ile)
c.*200G>A (n.*200G>A)
c.226G>A (p.Val76Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069127G>ACA436947787SIc.324C>T (p.Phe108=)
c.*199C>T (n.*199C>T)
c.225C>T (p.Phe75=)
3g.165069127G>CCA355035539SIc.324C>G (p.Phe108Leu)
c.*199C>G (n.*199C>G)
c.225C>G (p.Phe75Leu)
3g.165069127G>TCA355035540SIc.324C>A (p.Phe108Leu)
c.*199C>A (n.*199C>A)
c.225C>A (p.Phe75Leu)
 gnomAD v4
3g.165069128A=CA1417382128SIc.323T= (p.Phe108=)
c.*198T= (n.*198T=)
c.224T= (p.Phe75=)
3g.165069128A>CCA355035553SIc.323T>G (p.Phe108Cys)
c.*198T>G (n.*198T>G)
c.224T>G (p.Phe75Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.165069128A>GCA355035555SIc.323T>C (p.Phe108Ser)
c.*198T>C (n.*198T>C)
c.224T>C (p.Phe75Ser)
3g.165069128A>TCA355035558SIc.323T>A (p.Phe108Tyr)
c.*198T>A (n.*198T>A)
c.224T>A (p.Phe75Tyr)
3g.165069129A=CA1417382136SIc.322T= (p.Phe108=)
c.*197T= (n.*197T=)
c.223T= (p.Phe75=)
3g.165069129A>CCA2691547SIc.322T>G (p.Phe108Val)
c.*197T>G (n.*197T>G)
c.223T>G (p.Phe75Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069129A>GCA355035563SIc.322T>C (p.Phe108Leu)
c.*197T>C (n.*197T>C)
c.223T>C (p.Phe75Leu)
3g.165069129A>TCA355035566SIc.322T>A (p.Phe108Ile)
c.*197T>A (n.*197T>A)
c.223T>A (p.Phe75Ile)
3g.165069130G>ACA436947788SIc.321C>T (p.Phe107=)
c.*196C>T (n.*196C>T)
c.222C>T (p.Phe74=)
 gnomAD v4
3g.165069130G>CCA355035568SIc.321C>G (p.Phe107Leu)
c.*196C>G (n.*196C>G)
c.222C>G (p.Phe74Leu)
3g.165069130G>TCA355035571SIc.321C>A (p.Phe107Leu)
c.*196C>A (n.*196C>A)
c.222C>A (p.Phe74Leu)
 COSMIC COSMIC
3g.165069131A>CCA355035577SIc.320T>G (p.Phe107Cys)
c.*195T>G (n.*195T>G)
c.221T>G (p.Phe74Cys)
3g.165069131A>GCA355035574SIc.320T>C (p.Phe107Ser)
c.*195T>C (n.*195T>C)
c.221T>C (p.Phe74Ser)
3g.165069131A>TCA355035576SIc.320T>A (p.Phe107Tyr)
c.*195T>A (n.*195T>A)
c.221T>A (p.Phe74Tyr)
3g.165069132A>CCA355035579SIc.319T>G (p.Phe107Val)
c.*194T>G (n.*194T>G)
c.220T>G (p.Phe74Val)
 gnomAD v4
3g.165069132A>GCA355035581SIc.319T>C (p.Phe107Leu)
c.*194T>C (n.*194T>C)
c.220T>C (p.Phe74Leu)
 gnomAD v4
3g.165069132A>TCA355035583SIc.319T>A (p.Phe107Ile)
c.*194T>A (n.*194T>A)
c.220T>A (p.Phe74Ile)
3g.165069133G>ACA2691548SIc.318C>T (p.Cys106=)
c.*193C>T (n.*193C>T)
c.219C>T (p.Cys73=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069133G>CCA355035587SIc.318C>G (p.Cys106Trp)
c.*193C>G (n.*193C>G)
c.219C>G (p.Cys73Trp)
3g.165069133G=CA1417382140SIc.318C= (p.Cys106=)
c.*193C= (n.*193C=)
c.219C= (p.Cys73=)
3g.165069133G>TCA355035590SIc.318C>A (p.Cys106Ter)
c.*193C>A (n.*193C>A)
c.219C>A (p.Cys73Ter)
3g.165069134C>ACA355035595SIc.317G>T (p.Cys106Phe)
c.*192G>T (n.*192G>T)
c.218G>T (p.Cys73Phe)
3g.165069134C>GCA355035597SIc.317G>C (p.Cys106Ser)
c.*192G>C (n.*192G>C)
c.218G>C (p.Cys73Ser)
3g.165069134C>TCA355035600SIc.317G>A (p.Cys106Tyr)
c.*192G>A (n.*192G>A)
c.218G>A (p.Cys73Tyr)
3g.165069135A>CCA355035603SIc.316T>G (p.Cys106Gly)
c.*191T>G (n.*191T>G)
c.217T>G (p.Cys73Gly)
3g.165069135A>GCA355035604SIc.316T>C (p.Cys106Arg)
c.*191T>C (n.*191T>C)
c.217T>C (p.Cys73Arg)
3g.165069135A>TCA355035605SIc.316T>A (p.Cys106Ser)
c.*191T>A (n.*191T>A)
c.217T>A (p.Cys73Ser)
3g.165069135_165069136insAACACACCA2759234703SIc.315_316insGTGTGTT (p.Cys106ValfsTer7)
c.*190_*191insGTGTGTT (n.*190_*191insGTGTGTT)
c.216_217insGTGTGTT (p.Cys73ValfsTer7)
3g.165069136C>ACA2691549SIc.315G>T (p.Trp105Cys)
c.*190G>T (n.*190G>T)
c.216G>T (p.Trp72Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.165069136C=CA1417382149SIc.315G= (p.Trp105=)
c.*190G= (n.*190G=)
c.216G= (p.Trp72=)
3g.165069136C>GCA355035609SIc.315G>C (p.Trp105Cys)
c.*190G>C (n.*190G>C)
c.216G>C (p.Trp72Cys)
3g.165069136C>TCA355035607SIc.315G>A (p.Trp105Ter)
c.*190G>A (n.*190G>A)
c.216G>A (p.Trp72Ter)
3g.165069137C>ACA355035612SIc.314G>T (p.Trp105Leu)
c.*189G>T (n.*189G>T)
c.215G>T (p.Trp72Leu)
3g.165069137C>GCA355035622SIc.314G>C (p.Trp105Ser)
c.*189G>C (n.*189G>C)
c.215G>C (p.Trp72Ser)
3g.165069137C>TCA355035620SIc.314G>A (p.Trp105Ter)
c.*189G>A (n.*189G>A)
c.215G>A (p.Trp72Ter)
3g.165069138A>CCA355035624SIc.313T>G (p.Trp105Gly)
c.*188T>G (n.*188T>G)
c.214T>G (p.Trp72Gly)
3g.165069138A>GCA355035629SIc.313T>C (p.Trp105Arg)
c.*188T>C (n.*188T>C)
c.214T>C (p.Trp72Arg)
3g.165069138A>TCA355035627SIc.313T>A (p.Trp105Arg)
c.*188T>A (n.*188T>A)
c.214T>A (p.Trp72Arg)
3g.165069139A>CCA436947790SIc.312T>G (p.Pro104=)
c.*187T>G (n.*187T>G)
c.213T>G (p.Pro71=)
3g.165069139A>GCA436947791SIc.312T>C (p.Pro104=)
c.*187T>C (n.*187T>C)
c.213T>C (p.Pro71=)
3g.165069139A>TCA436947792SIc.312T>A (p.Pro104=)
c.*187T>A (n.*187T>A)
c.213T>A (p.Pro71=)
 gnomAD v4
3g.165069140G>ACA355035633SIc.311C>T (p.Pro104Leu)
c.*186C>T (n.*186C>T)
c.212C>T (p.Pro71Leu)
 COSMIC COSMIC
3g.165069140G>CCA86497904SIc.311C>G (p.Pro104Arg)
c.*186C>G (n.*186C>G)
c.212C>G (p.Pro71Arg)
 dbSNP COSMIC
3g.165069140G=CA1417382156SIc.311C= (p.Pro104=)
c.*186C= (n.*186C=)
c.212C= (p.Pro71=)
3g.165069140G>TCA355035635SIc.311C>A (p.Pro104His)
c.*186C>A (n.*186C>A)
c.212C>A (p.Pro71His)
3g.165069141G>ACA355035637SIc.310C>T (p.Pro104Ser)
c.*185C>T (n.*185C>T)
c.211C>T (p.Pro71Ser)
3g.165069141G>CCA355035638SIc.310C>G (p.Pro104Ala)
c.*185C>G (n.*185C>G)
c.211C>G (p.Pro71Ala)
3g.165069141G>TCA355035639SIc.310C>A (p.Pro104Thr)
c.*185C>A (n.*185C>A)
c.211C>A (p.Pro71Thr)
3g.165069142A>CCA355035641SIc.309T>G (p.Ile103Met)
c.*184T>G (n.*184T>G)
c.210T>G (p.Ile70Met)
3g.165069142A>GCA436947793SIc.309T>C (p.Ile103=)
c.*184T>C (n.*184T>C)
c.210T>C (p.Ile70=)
3g.165069142A>TCA436947794SIc.309T>A (p.Ile103=)
c.*184T>A (n.*184T>A)
c.210T>A (p.Ile70=)
3g.165069143A=CA1417382160SIc.308T= (p.Ile103=)
c.*183T= (n.*183T=)
c.209T= (p.Ile70=)
3g.165069143A>CCA355035649SIc.308T>G (p.Ile103Ser)
c.*183T>G (n.*183T>G)
c.209T>G (p.Ile70Ser)
 dbSNP
3g.165069143A>GCA355035650SIc.308T>C (p.Ile103Thr)
c.*183T>C (n.*183T>C)
c.209T>C (p.Ile70Thr)
3g.165069143A>TCA355035653SIc.308T>A (p.Ile103Asn)
c.*183T>A (n.*183T>A)
c.209T>A (p.Ile70Asn)
3g.165069144T>ACA355035657SIc.307A>T (p.Ile103Phe)
c.*182A>T (n.*182A>T)
c.208A>T (p.Ile70Phe)
 dbSNP
3g.165069144T>CCA355035656SIc.307A>G (p.Ile103Val)
c.*182A>G (n.*182A>G)
c.208A>G (p.Ile70Val)
3g.165069144T>GCA355035655SIc.307A>C (p.Ile103Leu)
c.*182A>C (n.*182A>C)
c.208A>C (p.Ile70Leu)
3g.165069144T=CA1417382164SIc.307A= (p.Ile103=)
c.*182A= (n.*182A=)
c.208A= (p.Ile70=)
3g.165069145A=CA1417382165SIc.306T= (p.Leu102=)
c.*181T= (n.*181T=)
c.207T= (p.Leu69=)
3g.165069145A>CCA436947796SIc.306T>G (p.Leu102=)
c.*181T>G (n.*181T>G)
c.207T>G (p.Leu69=)
3g.165069145A>GCA436947797SIc.306T>C (p.Leu102=)
c.*181T>C (n.*181T>C)
c.207T>C (p.Leu69=)
 dbSNP gnomAD v4
3g.165069145A>TCA436947798SIc.306T>A (p.Leu102=)
c.*181T>A (n.*181T>A)
c.207T>A (p.Leu69=)
3g.165069145_165069146delCA2668425552SIc.305_306del (p.Leu102HisfsTer8)
c.*180_*181del (n.*180_*181del)
c.206_207del (p.Leu69HisfsTer8)
 gnomAD v4
3g.165069145_165069147delinsAAGCA1417382167SIc.304_306delinsCTT (p.Leu102=)
c.*179_*181delinsCTT (n.*179_*181delinsCTT)
c.205_207delinsCTT (p.Leu69=)
3g.165069146A>CCA355035658SIc.305T>G (p.Leu102Arg)
c.*180T>G (n.*180T>G)
c.206T>G (p.Leu69Arg)
 COSMIC COSMIC
3g.165069146A>GCA355035660SIc.305T>C (p.Leu102Pro)
c.*180T>C (n.*180T>C)
c.206T>C (p.Leu69Pro)
3g.165069146A>TCA355035662SIc.305T>A (p.Leu102His)
c.*180T>A (n.*180T>A)
c.206T>A (p.Leu69His)
3g.165069150_165069151delCA547856445SIc.304_305del (p.Leu102TyrfsTer8)
c.*179_*180del (n.*179_*180del)
c.205_206del (p.Leu69TyrfsTer8)
 dbSNP gnomAD v2 gnomAD v4
3g.165069147G>ACA355035665SIc.304C>T (p.Leu102Phe)
c.*179C>T (n.*179C>T)
c.205C>T (p.Leu69Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.165069147G>CCA355035667SIc.304C>G (p.Leu102Val)
c.*179C>G (n.*179C>G)
c.205C>G (p.Leu69Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.165069147G=CA1417382173SIc.304C= (p.Leu102=)
c.*179C= (n.*179C=)
c.205C= (p.Leu69=)
3g.165069147G>TCA355035669SIc.304C>A (p.Leu102Ile)
c.*179C>A (n.*179C>A)
c.205C>A (p.Leu69Ile)
3g.165069148A>CCA436947799SIc.303T>G (p.Ser101=)
c.*178T>G (n.*178T>G)
c.204T>G (p.Ser68=)
3g.165069148A>GCA436947800SIc.303T>C (p.Ser101=)
c.*178T>C (n.*178T>C)
c.204T>C (p.Ser68=)
3g.165069148A>TCA436947801SIc.303T>A (p.Ser101=)
c.*178T>A (n.*178T>A)
c.204T>A (p.Ser68=)
3g.165069149G>ACA86497905SIc.302C>T (p.Ser101Phe)
c.*177C>T (n.*177C>T)
c.203C>T (p.Ser68Phe)
 dbSNP
3g.165069149G>CCA2691550SIc.302C>G (p.Ser101Cys)
c.*177C>G (n.*177C>G)
c.203C>G (p.Ser68Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.165069149G=CA1417382176SIc.302C= (p.Ser101=)
c.*177C= (n.*177C=)
c.203C= (p.Ser68=)
3g.165069149G>TCA355035674SIc.302C>A (p.Ser101Tyr)
c.*177C>A (n.*177C>A)
c.203C>A (p.Ser68Tyr)
3g.165069150A>CCA355035676SIc.301T>G (p.Ser101Ala)
c.*176T>G (n.*176T>G)
c.202T>G (p.Ser68Ala)
3g.165069150A>GCA355035678SIc.301T>C (p.Ser101Pro)
c.*176T>C (n.*176T>C)
c.202T>C (p.Ser68Pro)
3g.165069150A>TCA355035679SIc.301T>A (p.Ser101Thr)
c.*176T>A (n.*176T>A)
c.202T>A (p.Ser68Thr)
3g.165069151G>ACA436947802SIc.300C>T (p.Asp100=)
c.*175C>T (n.*175C>T)
c.201C>T (p.Asp67=)
3g.165069151G>CCA355035681SIc.300C>G (p.Asp100Glu)
c.*175C>G (n.*175C>G)
c.201C>G (p.Asp67Glu)
3g.165069151G>TCA355035682SIc.300C>A (p.Asp100Glu)
c.*175C>A (n.*175C>A)
c.201C>A (p.Asp67Glu)
3g.165069152T>ACA355035684SIc.299A>T (p.Asp100Val)
c.*174A>T (n.*174A>T)
c.200A>T (p.Asp67Val)
3g.165069152T>CCA2691551SIc.299A>G (p.Asp100Gly)
c.*174A>G (n.*174A>G)
c.200A>G (p.Asp67Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069152T>GCA355035686SIc.299A>C (p.Asp100Ala)
c.*174A>C (n.*174A>C)
c.200A>C (p.Asp67Ala)
3g.165069152T=CA1417382184SIc.299A= (p.Asp100=)
c.*174A= (n.*174A=)
c.200A= (p.Asp67=)
3g.165069153C>ACA355035689SIc.298G>T (p.Asp100Tyr)
c.*173G>T (n.*173G>T)
c.199G>T (p.Asp67Tyr)
3g.165069153C>GCA355035691SIc.298G>C (p.Asp100His)
c.*173G>C (n.*173G>C)
c.199G>C (p.Asp67His)
3g.165069153C>TCA355035693SIc.298G>A (p.Asp100Asn)
c.*173G>A (n.*173G>A)
c.199G>A (p.Asp67Asn)
3g.165069154A=CA1417382190SIc.297T= (p.Asn99=)
c.*172T= (n.*172T=)
c.198T= (p.Asn66=)
3g.165069154A>CCA355035695SIc.297T>G (p.Asn99Lys)
c.*172T>G (n.*172T>G)
c.198T>G (p.Asn66Lys)
3g.165069154A>GCA2691552SIc.297T>C (p.Asn99=)
c.*172T>C (n.*172T>C)
c.198T>C (p.Asn66=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.165069154A>TCA355035697SIc.297T>A (p.Asn99Lys)
c.*172T>A (n.*172T>A)
c.198T>A (p.Asn66Lys)
3g.165069155T>ACA355035699SIc.296A>T (p.Asn99Ile)
c.*171A>T (n.*171A>T)
c.197A>T (p.Asn66Ile)
3g.165069155T>CCA355035701SIc.296A>G (p.Asn99Ser)
c.*171A>G (n.*171A>G)
c.197A>G (p.Asn66Ser)
3g.165069155T>GCA355035702SIc.296A>C (p.Asn99Thr)
c.*171A>C (n.*171A>C)
c.197A>C (p.Asn66Thr)
3g.165069156delCA2668425553SIc.296del (p.Asn99MetfsTer21)
c.*171del (n.*171del)
c.197del (p.Asn66MetfsTer21)
 gnomAD v4
3g.165069156T>ACA355035709SIc.295A>T (p.Asn99Tyr)
c.*170A>T (n.*170A>T)
c.196A>T (p.Asn66Tyr)
3g.165069156T>CCA86497924SIc.295A>G (p.Asn99Asp)
c.*170A>G (n.*170A>G)
c.196A>G (p.Asn66Asp)
 dbSNP
3g.165069156T>GCA355035707SIc.295A>C (p.Asn99His)
c.*170A>C (n.*170A>C)
c.196A>C (p.Asn66His)
3g.165069156T=CA1417382195SIc.295A= (p.Asn99=)
c.*170A= (n.*170A=)
c.196A= (p.Asn66=)
3g.165069157C>ACA355035712SIc.294G>T (p.Trp98Cys)
c.*169G>T (n.*169G>T)
c.195G>T (p.Trp65Cys)
3g.165069157C=CA1417382199SIc.294G= (p.Trp98=)
c.*169G= (n.*169G=)
c.195G= (p.Trp65=)
3g.165069157C>GCA355035714SIc.294G>C (p.Trp98Cys)
c.*169G>C (n.*169G>C)
c.195G>C (p.Trp65Cys)
3g.165069157C>TCA355035716SIc.294G>A (p.Trp98Ter)
c.*169G>A (n.*169G>A)
c.195G>A (p.Trp65Ter)
 dbSNP gnomAD v2

Number of alleles fetched