Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54627761G>ACA370997474RP1c.3879G>A (p.Met1293Ile)
c.787+5473G>A (n.787+5473G>A)
c.3900G>A (p.Met1300Ile)
 COSMIC
8g.54627761G>CCA370997475RP1c.3879G>C (p.Met1293Ile)
c.787+5473G>C (n.787+5473G>C)
c.3900G>C (p.Met1300Ile)
8g.54627761G>TCA370997476RP1c.3879G>T (p.Met1293Ile)
c.787+5473G>T (n.787+5473G>T)
c.3900G>T (p.Met1300Ile)
8g.54627762A>CCA370997477RP1c.3880A>C (p.Asn1294His)
c.787+5474A>C (n.787+5474A>C)
c.3901A>C (p.Asn1301His)
8g.54627762A>GCA370997479RP1c.3880A>G (p.Asn1294Asp)
c.787+5474A>G (n.787+5474A>G)
c.3901A>G (p.Asn1301Asp)
8g.54627762A>TCA370997478RP1c.3880A>T (p.Asn1294Tyr)
c.787+5474A>T (n.787+5474A>T)
c.3901A>T (p.Asn1301Tyr)
 gnomAD v4
8g.54627763A=CA1785188881RP1c.3881A= (p.Asn1294=)
c.787+5475A= (n.787+5475A=)
c.3902A= (p.Asn1301=)
8g.54627763A>CCA4751761RP1c.3881A>C (p.Asn1294Thr)
c.787+5475A>C (n.787+5475A>C)
c.3902A>C (p.Asn1301Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627763A>GCA4751762RP1c.3881A>G (p.Asn1294Ser)
c.787+5475A>G (n.787+5475A>G)
c.3902A>G (p.Asn1301Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627763A>TCA370997480RP1c.3881A>T (p.Asn1294Ile)
c.787+5475A>T (n.787+5475A>T)
c.3902A>T (p.Asn1301Ile)
8g.54627764T>ACA370997481RP1c.3882T>A (p.Asn1294Lys)
c.787+5476T>A (n.787+5476T>A)
c.3903T>A (p.Asn1301Lys)
8g.54627764T>CCA461099786RP1c.3882T>C (p.Asn1294=)
c.787+5476T>C (n.787+5476T>C)
c.3903T>C (p.Asn1301=)
8g.54627764T>GCA370997482RP1c.3882T>G (p.Asn1294Lys)
c.787+5476T>G (n.787+5476T>G)
c.3903T>G (p.Asn1301Lys)
 dbSNP
8g.54627765_54627775delCA645560580RP1c.3883_3893del (p.Lys1295ProfsTer9)
c.787+5477_787+5487del (n.787+5477_787+5487del)
c.3904_3914del (p.Lys1302ProfsTer9)
 COSMIC
8g.54627765A>CCA370997484RP1c.3883A>C (p.Lys1295Gln)
c.787+5477A>C (n.787+5477A>C)
c.3904A>C (p.Lys1302Gln)
8g.54627765A>GCA370997485RP1c.3883A>G (p.Lys1295Glu)
c.787+5477A>G (n.787+5477A>G)
c.3904A>G (p.Lys1302Glu)
8g.54627765A>TCA370997483RP1c.3883A>T (p.Lys1295Ter)
c.787+5477A>T (n.787+5477A>T)
c.3904A>T (p.Lys1302Ter)
8g.54627766A>CCA370997487RP1c.3884A>C (p.Lys1295Thr)
c.787+5478A>C (n.787+5478A>C)
c.3905A>C (p.Lys1302Thr)
8g.54627766A>GCA370997486RP1c.3884A>G (p.Lys1295Arg)
c.787+5478A>G (n.787+5478A>G)
c.3905A>G (p.Lys1302Arg)
8g.54627766A>TCA370997488RP1c.3884A>T (p.Lys1295Met)
c.787+5478A>T (n.787+5478A>T)
c.3905A>T (p.Lys1302Met)
 ClinVar
8g.54627767G>ACA461099790RP1c.3885G>A (p.Lys1295=)
c.787+5479G>A (n.787+5479G>A)
c.3906G>A (p.Lys1302=)
8g.54627767G>CCA370997489RP1c.3885G>C (p.Lys1295Asn)
c.787+5479G>C (n.787+5479G>C)
c.3906G>C (p.Lys1302Asn)
8g.54627767G>TCA370997490RP1c.3885G>T (p.Lys1295Asn)
c.787+5479G>T (n.787+5479G>T)
c.3906G>T (p.Lys1302Asn)
8g.54627768G>ACA370997491RP1c.3886G>A (p.Ala1296Thr)
c.787+5480G>A (n.787+5480G>A)
c.3907G>A (p.Ala1303Thr)
8g.54627768G>CCA370997492RP1c.3886G>C (p.Ala1296Pro)
c.787+5480G>C (n.787+5480G>C)
c.3907G>C (p.Ala1303Pro)
8g.54627768G>TCA370997493RP1c.3886G>T (p.Ala1296Ser)
c.787+5480G>T (n.787+5480G>T)
c.3907G>T (p.Ala1303Ser)
8g.54627769C>ACA370997494RP1c.3887C>A (p.Ala1296Asp)
c.787+5481C>A (n.787+5481C>A)
c.3908C>A (p.Ala1303Asp)
8g.54627769C=CA1785188882RP1c.3887C= (p.Ala1296=)
c.787+5481C= (n.787+5481C=)
c.3908C= (p.Ala1303=)
8g.54627769C>GCA370997495RP1c.3887C>G (p.Ala1296Gly)
c.787+5481C>G (n.787+5481C>G)
c.3908C>G (p.Ala1303Gly)
 dbSNP
8g.54627769C>TCA370997496RP1c.3887C>T (p.Ala1296Val)
c.787+5481C>T (n.787+5481C>T)
c.3908C>T (p.Ala1303Val)
8g.54627770T>ACA461099796RP1c.3888T>A (p.Ala1296=)
c.787+5482T>A (n.787+5482T>A)
c.3909T>A (p.Ala1303=)
8g.54627770T>CCA461099797RP1c.3888T>C (p.Ala1296=)
c.787+5482T>C (n.787+5482T>C)
c.3909T>C (p.Ala1303=)
 gnomAD v4
8g.54627770T>GCA461099798RP1c.3888T>G (p.Ala1296=)
c.787+5482T>G (n.787+5482T>G)
c.3909T>G (p.Ala1303=)
8g.54627771T>ACA370997497RP1c.3889T>A (p.Cys1297Ser)
c.787+5483T>A (n.787+5483T>A)
c.3910T>A (p.Cys1304Ser)
8g.54627771T>CCA370997498RP1c.3889T>C (p.Cys1297Arg)
c.787+5483T>C (n.787+5483T>C)
c.3910T>C (p.Cys1304Arg)
8g.54627771T>GCA370997499RP1c.3889T>G (p.Cys1297Gly)
c.787+5483T>G (n.787+5483T>G)
c.3910T>G (p.Cys1304Gly)
8g.54627772G>ACA4751763RP1c.3890G>A (p.Cys1297Tyr)
c.787+5484G>A (n.787+5484G>A)
c.3911G>A (p.Cys1304Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627772G>CCA370980655RP1c.3890G>C (p.Cys1297Ser)
c.787+5484G>C (n.787+5484G>C)
c.3911G>C (p.Cys1304Ser)
 gnomAD v4
8g.54627772G=CA1785188883RP1c.3890G= (p.Cys1297=)
c.787+5484G= (n.787+5484G=)
c.3911G= (p.Cys1304=)
8g.54627772G>TCA370980654RP1c.3890G>T (p.Cys1297Phe)
c.787+5484G>T (n.787+5484G>T)
c.3911G>T (p.Cys1304Phe)
8g.54627772_54627773delinsGTCA1785188884RP1c.3890_3891delinsGT (p.Cys1297=)
c.787+5484_787+5485delinsGT (n.787+5484_787+5485delinsGT)
c.3911_3912delinsGT (p.Cys1304=)
8g.54627773T>ACA370980656RP1c.3891T>A (p.Cys1297Ter)
c.787+5485T>A (n.787+5485T>A)
c.3912T>A (p.Cys1304Ter)
8g.54627773T>CCA461099344RP1c.3891T>C (p.Cys1297=)
c.787+5485T>C (n.787+5485T>C)
c.3912T>C (p.Cys1304=)
 dbSNP
8g.54627773T>GCA370980657RP1c.3891T>G (p.Cys1297Trp)
c.787+5485T>G (n.787+5485T>G)
c.3912T>G (p.Cys1304Trp)
8g.54627775delCA582096941RP1c.3893del (p.Phe1298SerfsTer2)
c.787+5487del (n.787+5487del)
c.3914del (p.Phe1305SerfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627774T>ACA370980658RP1c.3892T>A (p.Phe1298Ile)
c.787+5486T>A (n.787+5486T>A)
c.3913T>A (p.Phe1305Ile)
8g.54627774T>CCA370980659RP1c.3892T>C (p.Phe1298Leu)
c.787+5486T>C (n.787+5486T>C)
c.3913T>C (p.Phe1305Leu)
8g.54627774T>GCA370980660RP1c.3892T>G (p.Phe1298Val)
c.787+5486T>G (n.787+5486T>G)
c.3913T>G (p.Phe1305Val)
8g.54627775T>ACA370980661RP1c.3893T>A (p.Phe1298Tyr)
c.787+5487T>A (n.787+5487T>A)
c.3914T>A (p.Phe1305Tyr)
8g.54627775T>CCA370980662RP1c.3893T>C (p.Phe1298Ser)
c.787+5487T>C (n.787+5487T>C)
c.3914T>C (p.Phe1305Ser)
8g.54627775T>GCA370980663RP1c.3893T>G (p.Phe1298Cys)
c.787+5487T>G (n.787+5487T>G)
c.3914T>G (p.Phe1305Cys)
8g.54627776C>ACA370980664RP1c.3894C>A (p.Phe1298Leu)
c.787+5488C>A (n.787+5488C>A)
c.3915C>A (p.Phe1305Leu)
8g.54627776C>GCA370980665RP1c.3894C>G (p.Phe1298Leu)
c.787+5488C>G (n.787+5488C>G)
c.3915C>G (p.Phe1305Leu)
8g.54627776C>TCA461099363RP1c.3894C>T (p.Phe1298=)
c.787+5488C>T (n.787+5488C>T)
c.3915C>T (p.Phe1305=)
 COSMIC
8g.54627777C>ACA370980666RP1c.3895C>A (p.Leu1299Ile)
c.787+5489C>A (n.787+5489C>A)
c.3916C>A (p.Leu1306Ile)
8g.54627777C>GCA370980667RP1c.3895C>G (p.Leu1299Val)
c.787+5489C>G (n.787+5489C>G)
c.3916C>G (p.Leu1306Val)
8g.54627777C>TCA461099365RP1c.3895C>T (p.Leu1299=)
c.787+5489C>T (n.787+5489C>T)
c.3916C>T (p.Leu1306=)
8g.54627778T>ACA370980669RP1c.3896T>A (p.Leu1299Gln)
c.787+5490T>A (n.787+5490T>A)
c.3917T>A (p.Leu1306Gln)
8g.54627778T>CCA370980670RP1c.3896T>C (p.Leu1299Pro)
c.787+5490T>C (n.787+5490T>C)
c.3917T>C (p.Leu1306Pro)
 gnomAD v4
8g.54627778T>GCA370980668RP1c.3896T>G (p.Leu1299Arg)
c.787+5490T>G (n.787+5490T>G)
c.3917T>G (p.Leu1306Arg)
8g.54627779A=CA1785188885RP1c.3897A= (p.Leu1299=)
c.787+5491A= (n.787+5491A=)
c.3918A= (p.Leu1306=)
8g.54627779A>CCA461099366RP1c.3897A>C (p.Leu1299=)
c.787+5491A>C (n.787+5491A>C)
c.3918A>C (p.Leu1306=)
8g.54627779A>GCA4751764RP1c.3897A>G (p.Leu1299=)
c.787+5491A>G (n.787+5491A>G)
c.3918A>G (p.Leu1306=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627779A>TCA461099368RP1c.3897A>T (p.Leu1299=)
c.787+5491A>T (n.787+5491A>T)
c.3918A>T (p.Leu1306=)
8g.54627780G>ACA370980671RP1c.3898G>A (p.Gly1300Arg)
c.787+5492G>A (n.787+5492G>A)
c.3919G>A (p.Gly1307Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54627780G>CCA370980672RP1c.3898G>C (p.Gly1300Arg)
c.787+5492G>C (n.787+5492G>C)
c.3919G>C (p.Gly1307Arg)
8g.54627780G=CA1785188886RP1c.3898G= (p.Gly1300=)
c.787+5492G= (n.787+5492G=)
c.3919G= (p.Gly1307=)
8g.54627780G>TCA370980673RP1c.3898G>T (p.Gly1300Ter)
c.787+5492G>T (n.787+5492G>T)
c.3919G>T (p.Gly1307Ter)
8g.54627781G>ACA370980674RP1c.3899G>A (p.Gly1300Glu)
c.787+5493G>A (n.787+5493G>A)
c.3920G>A (p.Gly1307Glu)
 gnomAD v4
8g.54627781G>CCA370980675RP1c.3899G>C (p.Gly1300Ala)
c.787+5493G>C (n.787+5493G>C)
c.3920G>C (p.Gly1307Ala)
8g.54627781G>TCA370980676RP1c.3899G>T (p.Gly1300Val)
c.787+5493G>T (n.787+5493G>T)
c.3920G>T (p.Gly1307Val)
8g.54627782A>CCA461099380RP1c.3900A>C (p.Gly1300=)
c.787+5494A>C (n.787+5494A>C)
c.3921A>C (p.Gly1307=)
8g.54627782A>GCA461099379RP1c.3900A>G (p.Gly1300=)
c.787+5494A>G (n.787+5494A>G)
c.3921A>G (p.Gly1307=)
8g.54627782A>TCA461099378RP1c.3900A>T (p.Gly1300=)
c.787+5494A>T (n.787+5494A>T)
c.3921A>T (p.Gly1307=)
8g.54627783G>ACA370980677RP1c.3901G>A (p.Glu1301Lys)
c.787+5495G>A (n.787+5495G>A)
c.3922G>A (p.Glu1308Lys)
8g.54627783G>CCA370980678RP1c.3901G>C (p.Glu1301Gln)
c.787+5495G>C (n.787+5495G>C)
c.3922G>C (p.Glu1308Gln)
8g.54627783G>TCA370980679RP1c.3901G>T (p.Glu1301Ter)
c.787+5495G>T (n.787+5495G>T)
c.3922G>T (p.Glu1308Ter)
8g.54627784A=CA1785188887RP1c.3902A= (p.Glu1301=)
c.787+5496A= (n.787+5496A=)
c.3923A= (p.Glu1308=)
8g.54627784A>CCA370980680RP1c.3902A>C (p.Glu1301Ala)
c.787+5496A>C (n.787+5496A>C)
c.3923A>C (p.Glu1308Ala)
8g.54627784A>GCA4751765RP1c.3902A>G (p.Glu1301Gly)
c.787+5496A>G (n.787+5496A>G)
c.3923A>G (p.Glu1308Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627784A>TCA370980681RP1c.3902A>T (p.Glu1301Val)
c.787+5496A>T (n.787+5496A>T)
c.3923A>T (p.Glu1308Val)
8g.54627785G>ACA461099390RP1c.3903G>A (p.Glu1301=)
c.787+5497G>A (n.787+5497G>A)
c.3924G>A (p.Glu1308=)
 COSMIC
8g.54627785G>CCA370980683RP1c.3903G>C (p.Glu1301Asp)
c.787+5497G>C (n.787+5497G>C)
c.3924G>C (p.Glu1308Asp)
8g.54627785G>TCA370980682RP1c.3903G>T (p.Glu1301Asp)
c.787+5497G>T (n.787+5497G>T)
c.3924G>T (p.Glu1308Asp)
8g.54627786G>ACA370980684RP1c.3904G>A (p.Val1302Ile)
c.787+5498G>A (n.787+5498G>A)
c.3925G>A (p.Val1309Ile)
 dbSNP
8g.54627786G>CCA370980685RP1c.3904G>C (p.Val1302Leu)
c.787+5498G>C (n.787+5498G>C)
c.3925G>C (p.Val1309Leu)
8g.54627786G>TCA370980686RP1c.3904G>T (p.Val1302Phe)
c.787+5498G>T (n.787+5498G>T)
c.3925G>T (p.Val1309Phe)
 gnomAD v4
8g.54627787T>ACA370980687RP1c.3905T>A (p.Val1302Asp)
c.787+5499T>A (n.787+5499T>A)
c.3926T>A (p.Val1309Asp)
8g.54627787T>CCA370980688RP1c.3905T>C (p.Val1302Ala)
c.787+5499T>C (n.787+5499T>C)
c.3926T>C (p.Val1309Ala)
8g.54627787T>GCA370980689RP1c.3905T>G (p.Val1302Gly)
c.787+5499T>G (n.787+5499T>G)
c.3926T>G (p.Val1309Gly)
8g.54627788C>ACA461099398RP1c.3906C>A (p.Val1302=)
c.787+5500C>A (n.787+5500C>A)
c.3927C>A (p.Val1309=)
8g.54627788C>GCA461099400RP1c.3906C>G (p.Val1302=)
c.787+5500C>G (n.787+5500C>G)
c.3927C>G (p.Val1309=)
 COSMIC
8g.54627788C>TCA461099399RP1c.3906C>T (p.Val1302=)
c.787+5500C>T (n.787+5500C>T)
c.3927C>T (p.Val1309=)
 COSMIC
8g.54627789T>ACA370980692RP1c.3907T>A (p.Cys1303Ser)
c.787+5501T>A (n.787+5501T>A)
c.3928T>A (p.Cys1310Ser)
8g.54627789T>CCA370980690RP1c.3907T>C (p.Cys1303Arg)
c.787+5501T>C (n.787+5501T>C)
c.3928T>C (p.Cys1310Arg)
 dbSNP
8g.54627789T>GCA370980691RP1c.3907T>G (p.Cys1303Gly)
c.787+5501T>G (n.787+5501T>G)
c.3928T>G (p.Cys1310Gly)
8g.54627789T=CA1785188888RP1c.3907T= (p.Cys1303=)
c.787+5501T= (n.787+5501T=)
c.3928T= (p.Cys1310=)
8g.54627790G>ACA370980693RP1c.3908G>A (p.Cys1303Tyr)
c.787+5502G>A (n.787+5502G>A)
c.3929G>A (p.Cys1310Tyr)
8g.54627790G>CCA370980694RP1c.3908G>C (p.Cys1303Ser)
c.787+5502G>C (n.787+5502G>C)
c.3929G>C (p.Cys1310Ser)
8g.54627790G>TCA370980695RP1c.3908G>T (p.Cys1303Phe)
c.787+5502G>T (n.787+5502G>T)
c.3929G>T (p.Cys1310Phe)
8g.54627791T>ACA370980696RP1c.3909T>A (p.Cys1303Ter)
c.787+5503T>A (n.787+5503T>A)
c.3930T>A (p.Cys1310Ter)
8g.54627791T>CCA461099403RP1c.3909T>C (p.Cys1303=)
c.787+5503T>C (n.787+5503T>C)
c.3930T>C (p.Cys1310=)
8g.54627791T>GCA370980697RP1c.3909T>G (p.Cys1303Trp)
c.787+5503T>G (n.787+5503T>G)
c.3930T>G (p.Cys1310Trp)
8g.54627792T>ACA370980700RP1c.3910T>A (p.Ser1304Thr)
c.787+5504T>A (n.787+5504T>A)
c.3931T>A (p.Ser1311Thr)
8g.54627792T>CCA370980699RP1c.3910T>C (p.Ser1304Pro)
c.787+5504T>C (n.787+5504T>C)
c.3931T>C (p.Ser1311Pro)
8g.54627792T>GCA370980698RP1c.3910T>G (p.Ser1304Ala)
c.787+5504T>G (n.787+5504T>G)
c.3931T>G (p.Ser1311Ala)
8g.54627793C>ACA370980701RP1c.3911C>A (p.Ser1304Ter)
c.787+5505C>A (n.787+5505C>A)
c.3932C>A (p.Ser1311Ter)
8g.54627793C>GCA370980702RP1c.3911C>G (p.Ser1304Ter)
c.787+5505C>G (n.787+5505C>G)
c.3932C>G (p.Ser1311Ter)
8g.54627793C>TCA370980703RP1c.3911C>T (p.Ser1304Leu)
c.787+5505C>T (n.787+5505C>T)
c.3932C>T (p.Ser1311Leu)
8g.54627794A=CA1785188889RP1c.3912A= (p.Ser1304=)
c.787+5506A= (n.787+5506A=)
c.3933A= (p.Ser1311=)
8g.54627794A>CCA461099419RP1c.3912A>C (p.Ser1304=)
c.787+5506A>C (n.787+5506A>C)
c.3933A>C (p.Ser1311=)
 dbSNP gnomAD v2 gnomAD v4
8g.54627794A>GCA461099420RP1c.3912A>G (p.Ser1304=)
c.787+5506A>G (n.787+5506A>G)
c.3933A>G (p.Ser1311=)
 dbSNP gnomAD v4
8g.54627794A>TCA461099421RP1c.3912A>T (p.Ser1304=)
c.787+5506A>T (n.787+5506A>T)
c.3933A>T (p.Ser1311=)
8g.54627795C>ACA370980704RP1c.3913C>A (p.Leu1305Ile)
c.787+5507C>A (n.787+5507C>A)
c.3934C>A (p.Leu1312Ile)
8g.54627795C=CA1785188890RP1c.3913C= (p.Leu1305=)
c.787+5507C= (n.787+5507C=)
c.3934C= (p.Leu1312=)
8g.54627795C>GCA370980705RP1c.3913C>G (p.Leu1305Val)
c.787+5507C>G (n.787+5507C>G)
c.3934C>G (p.Leu1312Val)
8g.54627795C>TCA4751766RP1c.3913C>T (p.Leu1305Phe)
c.787+5507C>T (n.787+5507C>T)
c.3934C>T (p.Leu1312Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627796T>ACA370980708RP1c.3914T>A (p.Leu1305His)
c.787+5508T>A (n.787+5508T>A)
c.3935T>A (p.Leu1312His)
8g.54627796T>CCA370980707RP1c.3914T>C (p.Leu1305Pro)
c.787+5508T>C (n.787+5508T>C)
c.3935T>C (p.Leu1312Pro)
8g.54627796T>GCA370980706RP1c.3914T>G (p.Leu1305Arg)
c.787+5508T>G (n.787+5508T>G)
c.3935T>G (p.Leu1312Arg)
8g.54627796_54627802delinsTTACTGACA1785188891RP1c.3914_3920delinsTTACTGA (p.Leu1305=)
c.787+5508_787+5514delinsTTACTGA (n.787+5508_787+5514delinsTTACTGA)
c.3935_3941delinsTTACTGA (p.Leu1312=)
8g.54627797T>ACA461099423RP1c.3915T>A (p.Leu1305=)
c.787+5509T>A (n.787+5509T>A)
c.3936T>A (p.Leu1312=)
8g.54627797T>CCA461099426RP1c.3915T>C (p.Leu1305=)
c.787+5509T>C (n.787+5509T>C)
c.3936T>C (p.Leu1312=)
 dbSNP gnomAD v4
8g.54627797T>GCA461099427RP1c.3915T>G (p.Leu1305=)
c.787+5509T>G (n.787+5509T>G)
c.3936T>G (p.Leu1312=)
8g.54627797T=CA1785188892RP1c.3915T= (p.Leu1305=)
c.787+5509T= (n.787+5509T=)
c.3936T= (p.Leu1312=)
8g.54627802_54627807delCA177180869RP1c.3920_3925del (p.Asp1307_Thr1308del)
c.787+5514_787+5519del (n.787+5514_787+5519del)
c.3941_3946del (p.Asp1314_Thr1315del)
 dbSNP
8g.54627798A=CA1785188893RP1c.3916A= (p.Thr1306=)
c.787+5510A= (n.787+5510A=)
c.3937A= (p.Thr1313=)
8g.54627798A>CCA370980709RP1c.3916A>C (p.Thr1306Pro)
c.787+5510A>C (n.787+5510A>C)
c.3937A>C (p.Thr1313Pro)
8g.54627798A>GCA370980710RP1c.3916A>G (p.Thr1306Ala)
c.787+5510A>G (n.787+5510A>G)
c.3937A>G (p.Thr1313Ala)
 dbSNP gnomAD v4
8g.54627798A>TCA370980711RP1c.3916A>T (p.Thr1306Ser)
c.787+5510A>T (n.787+5510A>T)
c.3937A>T (p.Thr1313Ser)
8g.54627799C>ACA370980712RP1c.3917C>A (p.Thr1306Asn)
c.787+5511C>A (n.787+5511C>A)
c.3938C>A (p.Thr1313Asn)
8g.54627799C>GCA370980713RP1c.3917C>G (p.Thr1306Ser)
c.787+5511C>G (n.787+5511C>G)
c.3938C>G (p.Thr1313Ser)
8g.54627799C>TCA370980714RP1c.3917C>T (p.Thr1306Ile)
c.787+5511C>T (n.787+5511C>T)
c.3938C>T (p.Thr1313Ile)
8g.54627800T>ACA461099435RP1c.3918T>A (p.Thr1306=)
c.787+5512T>A (n.787+5512T>A)
c.3939T>A (p.Thr1313=)
8g.54627800T>CCA461099436RP1c.3918T>C (p.Thr1306=)
c.787+5512T>C (n.787+5512T>C)
c.3939T>C (p.Thr1313=)
 dbSNP
8g.54627800T>GCA461099438RP1c.3918T>G (p.Thr1306=)
c.787+5512T>G (n.787+5512T>G)
c.3939T>G (p.Thr1313=)
8g.54627801G>ACA370980715RP1c.3919G>A (p.Asp1307Asn)
c.787+5513G>A (n.787+5513G>A)
c.3940G>A (p.Asp1314Asn)
 COSMIC
8g.54627801G>CCA370980716RP1c.3919G>C (p.Asp1307His)
c.787+5513G>C (n.787+5513G>C)
c.3940G>C (p.Asp1314His)
8g.54627801G=CA1785188894RP1c.3919G= (p.Asp1307=)
c.787+5513G= (n.787+5513G=)
c.3940G= (p.Asp1314=)
8g.54627801G>TCA177180891RP1c.3919G>T (p.Asp1307Tyr)
c.787+5513G>T (n.787+5513G>T)
c.3940G>T (p.Asp1314Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.54627802A>CCA370980717RP1c.3920A>C (p.Asp1307Ala)
c.787+5514A>C (n.787+5514A>C)
c.3941A>C (p.Asp1314Ala)
8g.54627802A>GCA370980718RP1c.3920A>G (p.Asp1307Gly)
c.787+5514A>G (n.787+5514A>G)
c.3941A>G (p.Asp1314Gly)
8g.54627802A>TCA370980719RP1c.3920A>T (p.Asp1307Val)
c.787+5514A>T (n.787+5514A>T)
c.3941A>T (p.Asp1314Val)
8g.54627803T>ACA370980720RP1c.3921T>A (p.Asp1307Glu)
c.787+5515T>A (n.787+5515T>A)
c.3942T>A (p.Asp1314Glu)
8g.54627803T>CCA4751767RP1c.3921T>C (p.Asp1307=)
c.787+5515T>C (n.787+5515T>C)
c.3942T>C (p.Asp1314=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627803T>GCA370980721RP1c.3921T>G (p.Asp1307Glu)
c.787+5515T>G (n.787+5515T>G)
c.3942T>G (p.Asp1314Glu)
8g.54627803T=CA1785188895RP1c.3921T= (p.Asp1307=)
c.787+5515T= (n.787+5515T=)
c.3942T= (p.Asp1314=)
8g.54627803_54627808dupCA2687301880RP1c.3921_3926dup (p.Val1309_Phe1310insThrVal)
c.787+5515_787+5520dup (n.787+5515_787+5520dup)
c.3942_3947dup (p.Val1316_Phe1317insThrVal)
 gnomAD v4
8g.54627804A>CCA370980722RP1c.3922A>C (p.Thr1308Pro)
c.787+5516A>C (n.787+5516A>C)
c.3943A>C (p.Thr1315Pro)
8g.54627804A>GCA370980723RP1c.3922A>G (p.Thr1308Ala)
c.787+5516A>G (n.787+5516A>G)
c.3943A>G (p.Thr1315Ala)
 gnomAD v4
8g.54627804A>TCA370980724RP1c.3922A>T (p.Thr1308Ser)
c.787+5516A>T (n.787+5516A>T)
c.3943A>T (p.Thr1315Ser)
8g.54627805C>ACA370980725RP1c.3923C>A (p.Thr1308Asn)
c.787+5517C>A (n.787+5517C>A)
c.3944C>A (p.Thr1315Asn)
 COSMIC
8g.54627805C>GCA370980726RP1c.3923C>G (p.Thr1308Ser)
c.787+5517C>G (n.787+5517C>G)
c.3944C>G (p.Thr1315Ser)
8g.54627805C>TCA370980727RP1c.3923C>T (p.Thr1308Ile)
c.787+5517C>T (n.787+5517C>T)
c.3944C>T (p.Thr1315Ile)
8g.54627806T>ACA461099450RP1c.3924T>A (p.Thr1308=)
c.787+5518T>A (n.787+5518T>A)
c.3945T>A (p.Thr1315=)
8g.54627806T>CCA461099453RP1c.3924T>C (p.Thr1308=)
c.787+5518T>C (n.787+5518T>C)
c.3945T>C (p.Thr1315=)
 dbSNP
8g.54627806T>GCA461099452RP1c.3924T>G (p.Thr1308=)
c.787+5518T>G (n.787+5518T>G)
c.3945T>G (p.Thr1315=)
8g.54627806T=CA1785188896RP1c.3924T= (p.Thr1308=)
c.787+5518T= (n.787+5518T=)
c.3945T= (p.Thr1315=)
8g.54627807G>ACA370980728RP1c.3925G>A (p.Val1309Met)
c.787+5519G>A (n.787+5519G>A)
c.3946G>A (p.Val1316Met)
8g.54627807G>CCA370980730RP1c.3925G>C (p.Val1309Leu)
c.787+5519G>C (n.787+5519G>C)
c.3946G>C (p.Val1316Leu)
8g.54627807G>TCA370980729RP1c.3925G>T (p.Val1309Leu)
c.787+5519G>T (n.787+5519G>T)
c.3946G>T (p.Val1316Leu)
8g.54627808T>ACA370980731RP1c.3926T>A (p.Val1309Glu)
c.787+5520T>A (n.787+5520T>A)
c.3947T>A (p.Val1316Glu)
8g.54627808T>CCA370980732RP1c.3926T>C (p.Val1309Ala)
c.787+5520T>C (n.787+5520T>C)
c.3947T>C (p.Val1316Ala)
8g.54627808T>GCA370980733RP1c.3926T>G (p.Val1309Gly)
c.787+5520T>G (n.787+5520T>G)
c.3947T>G (p.Val1316Gly)
8g.54627809G>ACA461099458RP1c.3927G>A (p.Val1309=)
c.787+5521G>A (n.787+5521G>A)
c.3948G>A (p.Val1316=)
8g.54627809G>CCA461099459RP1c.3927G>C (p.Val1309=)
c.787+5521G>C (n.787+5521G>C)
c.3948G>C (p.Val1316=)
8g.54627809G>TCA461099460RP1c.3927G>T (p.Val1309=)
c.787+5521G>T (n.787+5521G>T)
c.3948G>T (p.Val1316=)
8g.54627810T>ACA370980734RP1c.3928T>A (p.Phe1310Ile)
c.787+5522T>A (n.787+5522T>A)
c.3949T>A (p.Phe1317Ile)
8g.54627810T>CCA370980735RP1c.3928T>C (p.Phe1310Leu)
c.787+5522T>C (n.787+5522T>C)
c.3949T>C (p.Phe1317Leu)
8g.54627810T>GCA370980736RP1c.3928T>G (p.Phe1310Val)
c.787+5522T>G (n.787+5522T>G)
c.3949T>G (p.Phe1317Val)
 dbSNP gnomAD v3 gnomAD v4
8g.54627810T=CA1785188897RP1c.3928T= (p.Phe1310=)
c.787+5522T= (n.787+5522T=)
c.3949T= (p.Phe1317=)
8g.54627811T>ACA370980739RP1c.3929T>A (p.Phe1310Tyr)
c.787+5523T>A (n.787+5523T>A)
c.3950T>A (p.Phe1317Tyr)
8g.54627811T>CCA370980737RP1c.3929T>C (p.Phe1310Ser)
c.787+5523T>C (n.787+5523T>C)
c.3950T>C (p.Phe1317Ser)
 dbSNP gnomAD v4
8g.54627811T>GCA370980738RP1c.3929T>G (p.Phe1310Cys)
c.787+5523T>G (n.787+5523T>G)
c.3950T>G (p.Phe1317Cys)
8g.54627812T>ACA370980740RP1c.3930T>A (p.Phe1310Leu)
c.787+5524T>A (n.787+5524T>A)
c.3951T>A (p.Phe1317Leu)
8g.54627812T>CCA461099475RP1c.3930T>C (p.Phe1310=)
c.787+5524T>C (n.787+5524T>C)
c.3951T>C (p.Phe1317=)
8g.54627812T>GCA370980741RP1c.3930T>G (p.Phe1310Leu)
c.787+5524T>G (n.787+5524T>G)
c.3951T>G (p.Phe1317Leu)
8g.54627813T>ACA370980742RP1c.3931T>A (p.Ser1311Thr)
c.787+5525T>A (n.787+5525T>A)
c.3952T>A (p.Ser1318Thr)
8g.54627813T>CCA370980743RP1c.3931T>C (p.Ser1311Pro)
c.787+5525T>C (n.787+5525T>C)
c.3952T>C (p.Ser1318Pro)
8g.54627813T>GCA370980744RP1c.3931T>G (p.Ser1311Ala)
c.787+5525T>G (n.787+5525T>G)
c.3952T>G (p.Ser1318Ala)
8g.54627814C>ACA370980745RP1c.3932C>A (p.Ser1311Tyr)
c.787+5526C>A (n.787+5526C>A)
c.3953C>A (p.Ser1318Tyr)
8g.54627814C>GCA370980747RP1c.3932C>G (p.Ser1311Cys)
c.787+5526C>G (n.787+5526C>G)
c.3953C>G (p.Ser1318Cys)
8g.54627814C>TCA370980746RP1c.3932C>T (p.Ser1311Phe)
c.787+5526C>T (n.787+5526C>T)
c.3953C>T (p.Ser1318Phe)
 gnomAD v4
8g.54627815T>ACA461099489RP1c.3933T>A (p.Ser1311=)
c.787+5527T>A (n.787+5527T>A)
c.3954T>A (p.Ser1318=)
8g.54627815T>CCA461099491RP1c.3933T>C (p.Ser1311=)
c.787+5527T>C (n.787+5527T>C)
c.3954T>C (p.Ser1318=)
8g.54627815T>GCA461099492RP1c.3933T>G (p.Ser1311=)
c.787+5527T>G (n.787+5527T>G)
c.3954T>G (p.Ser1318=)
8g.54627816G>ACA370980748RP1c.3934G>A (p.Asp1312Asn)
c.787+5528G>A (n.787+5528G>A)
c.3955G>A (p.Asp1319Asn)
 ClinVar gnomAD v4 COSMIC
8g.54627816G>CCA370980749RP1c.3934G>C (p.Asp1312His)
c.787+5528G>C (n.787+5528G>C)
c.3955G>C (p.Asp1319His)
8g.54627816G>TCA370980750RP1c.3934G>T (p.Asp1312Tyr)
c.787+5528G>T (n.787+5528G>T)
c.3955G>T (p.Asp1319Tyr)
8g.54627817A>CCA370980751RP1c.3935A>C (p.Asp1312Ala)
c.787+5529A>C (n.787+5529A>C)
c.3956A>C (p.Asp1319Ala)
8g.54627817A>GCA370980752RP1c.3935A>G (p.Asp1312Gly)
c.787+5529A>G (n.787+5529A>G)
c.3956A>G (p.Asp1319Gly)
8g.54627817A>TCA370980753RP1c.3935A>T (p.Asp1312Val)
c.787+5529A>T (n.787+5529A>T)
c.3956A>T (p.Asp1319Val)
 gnomAD v4
8g.54627818T>ACA370980754RP1c.3936T>A (p.Asp1312Glu)
c.787+5530T>A (n.787+5530T>A)
c.3957T>A (p.Asp1319Glu)
8g.54627818T>CCA461099495RP1c.3936T>C (p.Asp1312=)
c.787+5530T>C (n.787+5530T>C)
c.3957T>C (p.Asp1319=)
8g.54627818T>GCA370980755RP1c.3936T>G (p.Asp1312Glu)
c.787+5530T>G (n.787+5530T>G)
c.3957T>G (p.Asp1319Glu)
8g.54627819A>CCA370980756RP1c.3937A>C (p.Lys1313Gln)
c.787+5531A>C (n.787+5531A>C)
c.3958A>C (p.Lys1320Gln)
8g.54627819A>GCA370980757RP1c.3937A>G (p.Lys1313Glu)
c.787+5531A>G (n.787+5531A>G)
c.3958A>G (p.Lys1320Glu)
8g.54627819A>TCA370980758RP1c.3937A>T (p.Lys1313Ter)
c.787+5531A>T (n.787+5531A>T)
c.3958A>T (p.Lys1320Ter)
 COSMIC
8g.54627820A=CA1785188898RP1c.3938A= (p.Lys1313=)
c.787+5532A= (n.787+5532A=)
c.3959A= (p.Lys1320=)
8g.54627820A>CCA370980760RP1c.3938A>C (p.Lys1313Thr)
c.787+5532A>C (n.787+5532A>C)
c.3959A>C (p.Lys1320Thr)
 dbSNP
8g.54627820A>GCA370980761RP1c.3938A>G (p.Lys1313Arg)
c.787+5532A>G (n.787+5532A>G)
c.3959A>G (p.Lys1320Arg)
8g.54627820A>TCA370980759RP1c.3938A>T (p.Lys1313Met)
c.787+5532A>T (n.787+5532A>T)
c.3959A>T (p.Lys1320Met)
8g.54627821G>ACA461099501RP1c.3939G>A (p.Lys1313=)
c.787+5533G>A (n.787+5533G>A)
c.3960G>A (p.Lys1320=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627821G>CCA370980762RP1c.3939G>C (p.Lys1313Asn)
c.787+5533G>C (n.787+5533G>C)
c.3960G>C (p.Lys1320Asn)
8g.54627821G=CA1785188899RP1c.3939G= (p.Lys1313=)
c.787+5533G= (n.787+5533G=)
c.3960G= (p.Lys1320=)
8g.54627821G>TCA370980763RP1c.3939G>T (p.Lys1313Asn)
c.787+5533G>T (n.787+5533G>T)
c.3960G>T (p.Lys1320Asn)
8g.54627822G>ACA4751769RP1c.3940G>A (p.Ala1314Thr)
c.787+5534G>A (n.787+5534G>A)
c.3961G>A (p.Ala1321Thr)
 dbSNP ExAC gnomAD v2 COSMIC
8g.54627822G>CCA4751768RP1c.3940G>C (p.Ala1314Pro)
c.787+5534G>C (n.787+5534G>C)
c.3961G>C (p.Ala1321Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627822G=CA1785188900RP1c.3940G= (p.Ala1314=)
c.787+5534G= (n.787+5534G=)
c.3961G= (p.Ala1321=)
8g.54627822G>TCA370980764RP1c.3940G>T (p.Ala1314Ser)
c.787+5534G>T (n.787+5534G>T)
c.3961G>T (p.Ala1321Ser)
8g.54627823C>ACA4751771RP1c.3941C>A (p.Ala1314Asp)
c.787+5535C>A (n.787+5535C>A)
c.3962C>A (p.Ala1321Asp)
 dbSNP ExAC
8g.54627823C=CA1785188901RP1c.3941C= (p.Ala1314=)
c.787+5535C= (n.787+5535C=)
c.3962C= (p.Ala1321=)
8g.54627823C>GCA370980765RP1c.3941C>G (p.Ala1314Gly)
c.787+5535C>G (n.787+5535C>G)
c.3962C>G (p.Ala1321Gly)
8g.54627823C>TCA4751770RP1c.3941C>T (p.Ala1314Val)
c.787+5535C>T (n.787+5535C>T)
c.3962C>T (p.Ala1321Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54627824T>ACA461099509RP1c.3942T>A (p.Ala1314=)
c.787+5536T>A (n.787+5536T>A)
c.3963T>A (p.Ala1321=)
8g.54627824T>CCA4751772RP1c.3942T>C (p.Ala1314=)
c.787+5536T>C (n.787+5536T>C)
c.3963T>C (p.Ala1321=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627824T>GCA461099513RP1c.3942T>G (p.Ala1314=)
c.787+5536T>G (n.787+5536T>G)
c.3963T>G (p.Ala1321=)
8g.54627824T=CA1785188902RP1c.3942T= (p.Ala1314=)
c.787+5536T= (n.787+5536T=)
c.3963T= (p.Ala1321=)
8g.54627825T>ACA370980767RP1c.3943T>A (p.Cys1315Ser)
c.787+5537T>A (n.787+5537T>A)
c.3964T>A (p.Cys1322Ser)
8g.54627825T>CCA4751773RP1c.3943T>C (p.Cys1315Arg)
c.787+5537T>C (n.787+5537T>C)
c.3964T>C (p.Cys1322Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627825T>GCA370980766RP1c.3943T>G (p.Cys1315Gly)
c.787+5537T>G (n.787+5537T>G)
c.3964T>G (p.Cys1322Gly)
8g.54627825T=CA1785188903RP1c.3943T= (p.Cys1315=)
c.787+5537T= (n.787+5537T=)
c.3964T= (p.Cys1322=)
8g.54627826G>ACA370980768RP1c.3944G>A (p.Cys1315Tyr)
c.787+5538G>A (n.787+5538G>A)
c.3965G>A (p.Cys1322Tyr)
 ClinVar dbSNP
8g.54627826G>CCA370980769RP1c.3944G>C (p.Cys1315Ser)
c.787+5538G>C (n.787+5538G>C)
c.3965G>C (p.Cys1322Ser)
8g.54627826G>TCA370980770RP1c.3944G>T (p.Cys1315Phe)
c.787+5538G>T (n.787+5538G>T)
c.3965G>T (p.Cys1322Phe)
 ClinVar gnomAD v4
8g.54627827T>ACA370980771RP1c.3945T>A (p.Cys1315Ter)
c.787+5539T>A (n.787+5539T>A)
c.3966T>A (p.Cys1322Ter)
8g.54627827T>CCA461099517RP1c.3945T>C (p.Cys1315=)
c.787+5539T>C (n.787+5539T>C)
c.3966T>C (p.Cys1322=)
8g.54627827T>GCA370980772RP1c.3945T>G (p.Cys1315Trp)
c.787+5539T>G (n.787+5539T>G)
c.3966T>G (p.Cys1322Trp)
8g.54627828G>ACA370980773RP1c.3946G>A (p.Ala1316Thr)
c.787+5540G>A (n.787+5540G>A)
c.3967G>A (p.Ala1323Thr)
 ClinVar
8g.54627828G>CCA370980774RP1c.3946G>C (p.Ala1316Pro)
c.787+5540G>C (n.787+5540G>C)
c.3967G>C (p.Ala1323Pro)
8g.54627828G=CA1785188904RP1c.3946G= (p.Ala1316=)
c.787+5540G= (n.787+5540G=)
c.3967G= (p.Ala1323=)
8g.54627828G>TCA4751774RP1c.3946G>T (p.Ala1316Ser)
c.787+5540G>T (n.787+5540G>T)
c.3967G>T (p.Ala1323Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627828_54627829delinsTTCA2573143177RP1c.3946_3947delinsTT (p.Ala1316Phe)
c.787+5540_787+5541delinsTT (n.787+5540_787+5541delinsTT)
c.3967_3968delinsTT (p.Ala1323Phe)
 ClinVar dbSNP
8g.54627829C>ACA370980775RP1c.3947C>A (p.Ala1316Asp)
c.787+5541C>A (n.787+5541C>A)
c.3968C>A (p.Ala1323Asp)
8g.54627829C=CA1785188905RP1c.3947C= (p.Ala1316=)
c.787+5541C= (n.787+5541C=)
c.3968C= (p.Ala1323=)
8g.54627829C>GCA370980776RP1c.3947C>G (p.Ala1316Gly)
c.787+5541C>G (n.787+5541C>G)
c.3968C>G (p.Ala1323Gly)
8g.54627829C>TCA4751775RP1c.3947C>T (p.Ala1316Val)
c.787+5541C>T (n.787+5541C>T)
c.3968C>T (p.Ala1323Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627830T>ACA461099522RP1c.3948T>A (p.Ala1316=)
c.787+5542T>A (n.787+5542T>A)
c.3969T>A (p.Ala1323=)
8g.54627830T>CCA461099523RP1c.3948T>C (p.Ala1316=)
c.787+5542T>C (n.787+5542T>C)
c.3969T>C (p.Ala1323=)
8g.54627830T>GCA461099520RP1c.3948T>G (p.Ala1316=)
c.787+5542T>G (n.787+5542T>G)
c.3969T>G (p.Ala1323=)
8g.54627831C>ACA370980779RP1c.3949C>A (p.Gln1317Lys)
c.787+5543C>A (n.787+5543C>A)
c.3970C>A (p.Gln1324Lys)
8g.54627831C>GCA370980778RP1c.3949C>G (p.Gln1317Glu)
c.787+5543C>G (n.787+5543C>G)
c.3970C>G (p.Gln1324Glu)
8g.54627831C>TCA370980777RP1c.3949C>T (p.Gln1317Ter)
c.787+5543C>T (n.787+5543C>T)
c.3970C>T (p.Gln1324Ter)
 ClinVar dbSNP
8g.54627831_54627832delinsCACA1785188906RP1c.3949_3950delinsCA (p.Gln1317=)
c.787+5543_787+5544delinsCA (n.787+5543_787+5544delinsCA)
c.3970_3971delinsCA (p.Gln1324=)
8g.54627832A=CA1785188907RP1c.3950A= (p.Gln1317=)
c.787+5544A= (n.787+5544A=)
c.3971A= (p.Gln1324=)
8g.54627832A>CCA370980780RP1c.3950A>C (p.Gln1317Pro)
c.787+5544A>C (n.787+5544A>C)
c.3971A>C (p.Gln1324Pro)
8g.54627832A>GCA4751776RP1c.3950A>G (p.Gln1317Arg)
c.787+5544A>G (n.787+5544A>G)
c.3971A>G (p.Gln1324Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627832A>TCA370980781RP1c.3950A>T (p.Gln1317Leu)
c.787+5544A>T (n.787+5544A>T)
c.3971A>T (p.Gln1324Leu)
8g.54627835delCA1114000356RP1c.3953del (p.Lys1318ArgfsTer28)
c.787+5547del (n.787+5547del)
c.3974del (p.Lys1325ArgfsTer28)
 dbSNP gnomAD v3 gnomAD v4
8g.54627833A=CA1785188908RP1c.3951A= (p.Gln1317=)
c.787+5545A= (n.787+5545A=)
c.3972A= (p.Gln1324=)
8g.54627833A>CCA370980782RP1c.3951A>C (p.Gln1317His)
c.787+5545A>C (n.787+5545A>C)
c.3972A>C (p.Gln1324His)
8g.54627833A>GCA461099528RP1c.3951A>G (p.Gln1317=)
c.787+5545A>G (n.787+5545A>G)
c.3972A>G (p.Gln1324=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627833A>TCA370980783RP1c.3951A>T (p.Gln1317His)
c.787+5545A>T (n.787+5545A>T)
c.3972A>T (p.Gln1324His)
8g.54627834A>CCA370980784RP1c.3952A>C (p.Lys1318Gln)
c.787+5546A>C (n.787+5546A>C)
c.3973A>C (p.Lys1325Gln)
8g.54627834A>GCA370980785RP1c.3952A>G (p.Lys1318Glu)
c.787+5546A>G (n.787+5546A>G)
c.3973A>G (p.Lys1325Glu)
8g.54627834A>TCA370980786RP1c.3952A>T (p.Lys1318Ter)
c.787+5546A>T (n.787+5546A>T)
c.3973A>T (p.Lys1325Ter)
8g.54627835A>CCA370980787RP1c.3953A>C (p.Lys1318Thr)
c.787+5547A>C (n.787+5547A>C)
c.3974A>C (p.Lys1325Thr)
8g.54627835A>GCA370980788RP1c.3953A>G (p.Lys1318Arg)
c.787+5547A>G (n.787+5547A>G)
c.3974A>G (p.Lys1325Arg)
8g.54627835A>TCA370980789RP1c.3953A>T (p.Lys1318Met)
c.787+5547A>T (n.787+5547A>T)
c.3974A>T (p.Lys1325Met)
8g.54627836G>ACA461099532RP1c.3954G>A (p.Lys1318=)
c.787+5548G>A (n.787+5548G>A)
c.3975G>A (p.Lys1325=)
 COSMIC
8g.54627836G>CCA370980790RP1c.3954G>C (p.Lys1318Asn)
c.787+5548G>C (n.787+5548G>C)
c.3975G>C (p.Lys1325Asn)
8g.54627836G>TCA370980791RP1c.3954G>T (p.Lys1318Asn)
c.787+5548G>T (n.787+5548G>T)
c.3975G>T (p.Lys1325Asn)
8g.54627837G>ACA370980793RP1c.3955G>A (p.Glu1319Lys)
c.787+5549G>A (n.787+5549G>A)
c.3976G>A (p.Glu1326Lys)
 COSMIC
8g.54627837G>CCA370980794RP1c.3955G>C (p.Glu1319Gln)
c.787+5549G>C (n.787+5549G>C)
c.3976G>C (p.Glu1326Gln)
8g.54627837G>TCA370980792RP1c.3955G>T (p.Glu1319Ter)
c.787+5549G>T (n.787+5549G>T)
c.3976G>T (p.Glu1326Ter)
8g.54627838A=CA1785188909RP1c.3956A= (p.Glu1319=)
c.787+5550A= (n.787+5550A=)
c.3977A= (p.Glu1326=)
8g.54627838A>CCA370980795RP1c.3956A>C (p.Glu1319Ala)
c.787+5550A>C (n.787+5550A>C)
c.3977A>C (p.Glu1326Ala)
8g.54627838A>GCA4751777RP1c.3956A>G (p.Glu1319Gly)
c.787+5550A>G (n.787+5550A>G)
c.3977A>G (p.Glu1326Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627838A>TCA370980796RP1c.3956A>T (p.Glu1319Val)
c.787+5550A>T (n.787+5550A>T)
c.3977A>T (p.Glu1326Val)
8g.54627839G>ACA461099536RP1c.3957G>A (p.Glu1319=)
c.787+5551G>A (n.787+5551G>A)
c.3978G>A (p.Glu1326=)
 dbSNP
8g.54627839G>CCA370980797RP1c.3957G>C (p.Glu1319Asp)
c.787+5551G>C (n.787+5551G>C)
c.3978G>C (p.Glu1326Asp)
8g.54627839G=CA1785188910RP1c.3957G= (p.Glu1319=)
c.787+5551G= (n.787+5551G=)
c.3978G= (p.Glu1326=)
8g.54627839G>TCA370980798RP1c.3957G>T (p.Glu1319Asp)
c.787+5551G>T (n.787+5551G>T)
c.3978G>T (p.Glu1326Asp)
8g.54627840A>CCA370980799RP1c.3958A>C (p.Asn1320His)
c.787+5552A>C (n.787+5552A>C)
c.3979A>C (p.Asn1327His)
8g.54627840A>GCA370980800RP1c.3958A>G (p.Asn1320Asp)
c.787+5552A>G (n.787+5552A>G)
c.3979A>G (p.Asn1327Asp)
 gnomAD v4
8g.54627840A>TCA370980801RP1c.3958A>T (p.Asn1320Tyr)
c.787+5552A>T (n.787+5552A>T)
c.3979A>T (p.Asn1327Tyr)
8g.54627841A=CA1785188911RP1c.3959A= (p.Asn1320=)
c.787+5553A= (n.787+5553A=)
c.3980A= (p.Asn1327=)
8g.54627841A>CCA370980802RP1c.3959A>C (p.Asn1320Thr)
c.787+5553A>C (n.787+5553A>C)
c.3980A>C (p.Asn1327Thr)
8g.54627841A>GCA370980803RP1c.3959A>G (p.Asn1320Ser)
c.787+5553A>G (n.787+5553A>G)
c.3980A>G (p.Asn1327Ser)
8g.54627841A>TCA370980804RP1c.3959A>T (p.Asn1320Ile)
c.787+5553A>T (n.787+5553A>T)
c.3980A>T (p.Asn1327Ile)
 dbSNP
8g.54627842C>ACA370980805RP1c.3960C>A (p.Asn1320Lys)
c.787+5554C>A (n.787+5554C>A)
c.3981C>A (p.Asn1327Lys)
8g.54627842C=CA1785188912RP1c.3960C= (p.Asn1320=)
c.787+5554C= (n.787+5554C=)
c.3981C= (p.Asn1327=)
8g.54627842C>GCA370980806RP1c.3960C>G (p.Asn1320Lys)
c.787+5554C>G (n.787+5554C>G)
c.3981C>G (p.Asn1327Lys)
8g.54627842C>TCA461099546RP1c.3960C>T (p.Asn1320=)
c.787+5554C>T (n.787+5554C>T)
c.3981C>T (p.Asn1327=)
 ClinVar dbSNP gnomAD v4
8g.54627843C>ACA370980807RP1c.3961C>A (p.His1321Asn)
c.787+5555C>A (n.787+5555C>A)
c.3982C>A (p.His1328Asn)
8g.54627843C>GCA370980809RP1c.3961C>G (p.His1321Asp)
c.787+5555C>G (n.787+5555C>G)
c.3982C>G (p.His1328Asp)
8g.54627843C>TCA370980808RP1c.3961C>T (p.His1321Tyr)
c.787+5555C>T (n.787+5555C>T)
c.3982C>T (p.His1328Tyr)
8g.54627844A>CCA370980810RP1c.3962A>C (p.His1321Pro)
c.787+5556A>C (n.787+5556A>C)
c.3983A>C (p.His1328Pro)
8g.54627844A>GCA370980811RP1c.3962A>G (p.His1321Arg)
c.787+5556A>G (n.787+5556A>G)
c.3983A>G (p.His1328Arg)
8g.54627844A>TCA370980812RP1c.3962A>T (p.His1321Leu)
c.787+5556A>T (n.787+5556A>T)
c.3983A>T (p.His1328Leu)
8g.54627845T>ACA370980813RP1c.3963T>A (p.His1321Gln)
c.787+5557T>A (n.787+5557T>A)
c.3984T>A (p.His1328Gln)
8g.54627845T>CCA4751778RP1c.3963T>C (p.His1321=)
c.787+5557T>C (n.787+5557T>C)
c.3984T>C (p.His1328=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627845T>GCA370980814RP1c.3963T>G (p.His1321Gln)
c.787+5557T>G (n.787+5557T>G)
c.3984T>G (p.His1328Gln)
8g.54627845T=CA1785188913RP1c.3963T= (p.His1321=)
c.787+5557T= (n.787+5557T=)
c.3984T= (p.His1328=)
8g.54627846A>CCA370980815RP1c.3964A>C (p.Thr1322Pro)
c.787+5558A>C (n.787+5558A>C)
c.3985A>C (p.Thr1329Pro)
8g.54627846A>GCA370980816RP1c.3964A>G (p.Thr1322Ala)
c.787+5558A>G (n.787+5558A>G)
c.3985A>G (p.Thr1329Ala)
 COSMIC
8g.54627846A>TCA370980817RP1c.3964A>T (p.Thr1322Ser)
c.787+5558A>T (n.787+5558A>T)
c.3985A>T (p.Thr1329Ser)
8g.54627847C>ACA370980819RP1c.3965C>A (p.Thr1322Asn)
c.787+5559C>A (n.787+5559C>A)
c.3986C>A (p.Thr1329Asn)
8g.54627847C=CA1785188914RP1c.3965C= (p.Thr1322=)
c.787+5559C= (n.787+5559C=)
c.3986C= (p.Thr1329=)
8g.54627847C>GCA4751779RP1c.3965C>G (p.Thr1322Ser)
c.787+5559C>G (n.787+5559C>G)
c.3986C>G (p.Thr1329Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627847C>TCA370980818RP1c.3965C>T (p.Thr1322Ile)
c.787+5559C>T (n.787+5559C>T)
c.3986C>T (p.Thr1329Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.54627848C>ACA461099559RP1c.3966C>A (p.Thr1322=)
c.787+5560C>A (n.787+5560C>A)
c.3987C>A (p.Thr1329=)
8g.54627848C=CA1785188915RP1c.3966C= (p.Thr1322=)
c.787+5560C= (n.787+5560C=)
c.3987C= (p.Thr1329=)
8g.54627848C>GCA461099560RP1c.3966C>G (p.Thr1322=)
c.787+5560C>G (n.787+5560C>G)
c.3987C>G (p.Thr1329=)
8g.54627848C>TCA4751780RP1c.3966C>T (p.Thr1322=)
c.787+5560C>T (n.787+5560C>T)
c.3987C>T (p.Thr1329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627849T>ACA370980820RP1c.3967T>A (p.Tyr1323Asn)
c.787+5561T>A (n.787+5561T>A)
c.3988T>A (p.Tyr1330Asn)
 gnomAD v4
8g.54627849T>CCA370980821RP1c.3967T>C (p.Tyr1323His)
c.787+5561T>C (n.787+5561T>C)
c.3988T>C (p.Tyr1330His)
8g.54627849T>GCA370980822RP1c.3967T>G (p.Tyr1323Asp)
c.787+5561T>G (n.787+5561T>G)
c.3988T>G (p.Tyr1330Asp)
 gnomAD v4
8g.54627850A=CA1785188916RP1c.3968A= (p.Tyr1323=)
c.787+5562A= (n.787+5562A=)
c.3989A= (p.Tyr1330=)
8g.54627850A>CCA370980823RP1c.3968A>C (p.Tyr1323Ser)
c.787+5562A>C (n.787+5562A>C)
c.3989A>C (p.Tyr1330Ser)
8g.54627850A>GCA4751781RP1c.3968A>G (p.Tyr1323Cys)
c.787+5562A>G (n.787+5562A>G)
c.3989A>G (p.Tyr1330Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627850A>TCA370980824RP1c.3968A>T (p.Tyr1323Phe)
c.787+5562A>T (n.787+5562A>T)
c.3989A>T (p.Tyr1330Phe)
8g.54627851T>ACA370980825RP1c.3969T>A (p.Tyr1323Ter)
c.787+5563T>A (n.787+5563T>A)
c.3990T>A (p.Tyr1330Ter)
8g.54627851T>CCA461099568RP1c.3969T>C (p.Tyr1323=)
c.787+5563T>C (n.787+5563T>C)
c.3990T>C (p.Tyr1330=)
 gnomAD v4
8g.54627851T>GCA370980826RP1c.3969T>G (p.Tyr1323Ter)
c.787+5563T>G (n.787+5563T>G)
c.3990T>G (p.Tyr1330Ter)
8g.54627852G>ACA370980827RP1c.3970G>A (p.Glu1324Lys)
c.787+5564G>A (n.787+5564G>A)
c.3991G>A (p.Glu1331Lys)
 gnomAD v4 COSMIC
8g.54627852G>CCA370980828RP1c.3970G>C (p.Glu1324Gln)
c.787+5564G>C (n.787+5564G>C)
c.3991G>C (p.Glu1331Gln)
8g.54627852G>TCA370980829RP1c.3970G>T (p.Glu1324Ter)
c.787+5564G>T (n.787+5564G>T)
c.3991G>T (p.Glu1331Ter)
8g.54627853A=CA1785188917RP1c.3971A= (p.Glu1324=)
c.787+5565A= (n.787+5565A=)
c.3992A= (p.Glu1331=)
8g.54627853A>CCA370980830RP1c.3971A>C (p.Glu1324Ala)
c.787+5565A>C (n.787+5565A>C)
c.3992A>C (p.Glu1331Ala)
 gnomAD v4
8g.54627853A>GCA370980831RP1c.3971A>G (p.Glu1324Gly)
c.787+5565A>G (n.787+5565A>G)
c.3992A>G (p.Glu1331Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627853A>TCA4751782RP1c.3971A>T (p.Glu1324Val)
c.787+5565A>T (n.787+5565A>T)
c.3992A>T (p.Glu1331Val)
 dbSNP ExAC gnomAD v4
8g.54627854G>ACA461099574RP1c.3972G>A (p.Glu1324=)
c.787+5566G>A (n.787+5566G>A)
c.3993G>A (p.Glu1331=)
 ClinVar dbSNP gnomAD v4
8g.54627854G>CCA370980832RP1c.3972G>C (p.Glu1324Asp)
c.787+5566G>C (n.787+5566G>C)
c.3993G>C (p.Glu1331Asp)
8g.54627854G>TCA370980833RP1c.3972G>T (p.Glu1324Asp)
c.787+5566G>T (n.787+5566G>T)
c.3993G>T (p.Glu1331Asp)
8g.54627855G>ACA370980834RP1c.3973G>A (p.Gly1325Arg)
c.787+5567G>A (n.787+5567G>A)
c.3994G>A (p.Gly1332Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54627855G>CCA370980835RP1c.3973G>C (p.Gly1325Arg)
c.787+5567G>C (n.787+5567G>C)
c.3994G>C (p.Gly1332Arg)
8g.54627855G=CA1785188918RP1c.3973G= (p.Gly1325=)
c.787+5567G= (n.787+5567G=)
c.3994G= (p.Gly1332=)
8g.54627855G>TCA370980836RP1c.3973G>T (p.Gly1325Ter)
c.787+5567G>T (n.787+5567G>T)
c.3994G>T (p.Gly1332Ter)
8g.54627856G>ACA370980837RP1c.3974G>A (p.Gly1325Glu)
c.787+5568G>A (n.787+5568G>A)
c.3995G>A (p.Gly1332Glu)
 dbSNP COSMIC
8g.54627856G>CCA370980838RP1c.3974G>C (p.Gly1325Ala)
c.787+5568G>C (n.787+5568G>C)
c.3995G>C (p.Gly1332Ala)
8g.54627856G=CA1785188919RP1c.3974G= (p.Gly1325=)
c.787+5568G= (n.787+5568G=)
c.3995G= (p.Gly1332=)
8g.54627856G>TCA370980839RP1c.3974G>T (p.Gly1325Val)
c.787+5568G>T (n.787+5568G>T)
c.3995G>T (p.Gly1332Val)
 dbSNP
8g.54627857A>CCA461099578RP1c.3975A>C (p.Gly1325=)
c.787+5569A>C (n.787+5569A>C)
c.3996A>C (p.Gly1332=)
8g.54627857A>GCA461099580RP1c.3975A>G (p.Gly1325=)
c.787+5569A>G (n.787+5569A>G)
c.3996A>G (p.Gly1332=)
8g.54627857A>TCA461099579RP1c.3975A>T (p.Gly1325=)
c.787+5569A>T (n.787+5569A>T)
c.3996A>T (p.Gly1332=)
8g.54627858G>ACA370980840RP1c.3976G>A (p.Ala1326Thr)
c.787+5570G>A (n.787+5570G>A)
c.3997G>A (p.Ala1333Thr)
 gnomAD v4
8g.54627858G>CCA4751783RP1c.3976G>C (p.Ala1326Pro)
c.787+5570G>C (n.787+5570G>C)
c.3997G>C (p.Ala1333Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627858G=CA1785188920RP1c.3976G= (p.Ala1326=)
c.787+5570G= (n.787+5570G=)
c.3997G= (p.Ala1333=)
8g.54627858G>TCA370980841RP1c.3976G>T (p.Ala1326Ser)
c.787+5570G>T (n.787+5570G>T)
c.3997G>T (p.Ala1333Ser)
8g.54627859C>ACA370980842RP1c.3977C>A (p.Ala1326Asp)
c.787+5571C>A (n.787+5571C>A)
c.3998C>A (p.Ala1333Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.54627859C=CA1785188921RP1c.3977C= (p.Ala1326=)
c.787+5571C= (n.787+5571C=)
c.3998C= (p.Ala1333=)
8g.54627859C>GCA370980843RP1c.3977C>G (p.Ala1326Gly)
c.787+5571C>G (n.787+5571C>G)
c.3998C>G (p.Ala1333Gly)
8g.54627859C>TCA370980844RP1c.3977C>T (p.Ala1326Val)
c.787+5571C>T (n.787+5571C>T)
c.3998C>T (p.Ala1333Val)
8g.54627860T>ACA461099590RP1c.3978T>A (p.Ala1326=)
c.787+5572T>A (n.787+5572T>A)
c.3999T>A (p.Ala1333=)
8g.54627860T>CCA461099591RP1c.3978T>C (p.Ala1326=)
c.787+5572T>C (n.787+5572T>C)
c.3999T>C (p.Ala1333=)
 COSMIC
8g.54627860T>GCA461099592RP1c.3978T>G (p.Ala1326=)
c.787+5572T>G (n.787+5572T>G)
c.3999T>G (p.Ala1333=)
8g.54627861T>ACA370980845RP1c.3979T>A (p.Cys1327Ser)
c.787+5573T>A (n.787+5573T>A)
c.4000T>A (p.Cys1334Ser)
8g.54627861T>CCA370980847RP1c.3979T>C (p.Cys1327Arg)
c.787+5573T>C (n.787+5573T>C)
c.4000T>C (p.Cys1334Arg)
8g.54627861T>GCA370980846RP1c.3979T>G (p.Cys1327Gly)
c.787+5573T>G (n.787+5573T>G)
c.4000T>G (p.Cys1334Gly)

Number of alleles fetched