Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38712340C>ACA2320072SCN10Ac.3910G>T (p.Ala1304Ser)
c.3907G>T (p.Ala1303Ser)
c.3934G>T (p.Ala1312Ser)
c.3616G>T (p.Ala1206Ser)
c.3919G>T (p.Ala1307Ser)
c.3916G>T (p.Ala1306Ser)
c.3625G>T (p.Ala1209Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712340C=CA1358633369SCN10Ac.3910G= (p.Ala1304=)
c.3907G= (p.Ala1303=)
c.3934G= (p.Ala1312=)
c.3616G= (p.Ala1206=)
c.3919G= (p.Ala1307=)
c.3916G= (p.Ala1306=)
c.3625G= (p.Ala1209=)
3g.38712340C>GCA352151194SCN10Ac.3910G>C (p.Ala1304Pro)
c.3907G>C (p.Ala1303Pro)
c.3934G>C (p.Ala1312Pro)
c.3616G>C (p.Ala1206Pro)
c.3919G>C (p.Ala1307Pro)
c.3916G>C (p.Ala1306Pro)
c.3625G>C (p.Ala1209Pro)
3g.38712340C>TCA145439SCN10Ac.3910G>A (p.Ala1304Thr)
c.3907G>A (p.Ala1303Thr)
c.3934G>A (p.Ala1312Thr)
c.3616G>A (p.Ala1206Thr)
c.3919G>A (p.Ala1307Thr)
c.3916G>A (p.Ala1306Thr)
c.3625G>A (p.Ala1209Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712341G>ACA72950507SCN10Ac.3909C>T (p.Phe1303=)
c.3906C>T (p.Phe1302=)
c.3933C>T (p.Phe1311=)
c.3615C>T (p.Phe1205=)
c.3918C>T (p.Phe1306=)
c.3915C>T (p.Phe1305=)
c.3624C>T (p.Phe1208=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712341G>CCA352151195SCN10Ac.3909C>G (p.Phe1303Leu)
c.3906C>G (p.Phe1302Leu)
c.3933C>G (p.Phe1311Leu)
c.3615C>G (p.Phe1205Leu)
c.3918C>G (p.Phe1306Leu)
c.3915C>G (p.Phe1305Leu)
c.3624C>G (p.Phe1208Leu)
3g.38712341G=CA1358633372SCN10Ac.3909C= (p.Phe1303=)
c.3906C= (p.Phe1302=)
c.3933C= (p.Phe1311=)
c.3615C= (p.Phe1205=)
c.3918C= (p.Phe1306=)
c.3915C= (p.Phe1305=)
c.3624C= (p.Phe1208=)
3g.38712341G>TCA352151196SCN10Ac.3909C>A (p.Phe1303Leu)
c.3906C>A (p.Phe1302Leu)
c.3933C>A (p.Phe1311Leu)
c.3615C>A (p.Phe1205Leu)
c.3918C>A (p.Phe1306Leu)
c.3915C>A (p.Phe1305Leu)
c.3624C>A (p.Phe1208Leu)
3g.38712342A=CA1358633376SCN10Ac.3908T= (p.Phe1303=)
c.3905T= (p.Phe1302=)
c.3932T= (p.Phe1311=)
c.3614T= (p.Phe1205=)
c.3917T= (p.Phe1306=)
c.3914T= (p.Phe1305=)
c.3623T= (p.Phe1208=)
3g.38712342A>CCA352151197SCN10Ac.3908T>G (p.Phe1303Cys)
c.3905T>G (p.Phe1302Cys)
c.3932T>G (p.Phe1311Cys)
c.3614T>G (p.Phe1205Cys)
c.3917T>G (p.Phe1306Cys)
c.3914T>G (p.Phe1305Cys)
c.3623T>G (p.Phe1208Cys)
3g.38712342A>GCA16617956SCN10Ac.3908T>C (p.Phe1303Ser)
c.3905T>C (p.Phe1302Ser)
c.3932T>C (p.Phe1311Ser)
c.3614T>C (p.Phe1205Ser)
c.3917T>C (p.Phe1306Ser)
c.3914T>C (p.Phe1305Ser)
c.3623T>C (p.Phe1208Ser)
ClinVar dbSNP
3g.38712342A>TCA352151198SCN10Ac.3908T>A (p.Phe1303Tyr)
c.3905T>A (p.Phe1302Tyr)
c.3932T>A (p.Phe1311Tyr)
c.3614T>A (p.Phe1205Tyr)
c.3917T>A (p.Phe1306Tyr)
c.3914T>A (p.Phe1305Tyr)
c.3623T>A (p.Phe1208Tyr)
3g.38712343A>CCA352151199SCN10Ac.3907T>G (p.Phe1303Val)
c.3904T>G (p.Phe1302Val)
c.3931T>G (p.Phe1311Val)
c.3613T>G (p.Phe1205Val)
c.3916T>G (p.Phe1306Val)
c.3913T>G (p.Phe1305Val)
c.3622T>G (p.Phe1208Val)
3g.38712343A>GCA352151200SCN10Ac.3907T>C (p.Phe1303Leu)
c.3904T>C (p.Phe1302Leu)
c.3931T>C (p.Phe1311Leu)
c.3613T>C (p.Phe1205Leu)
c.3916T>C (p.Phe1306Leu)
c.3913T>C (p.Phe1305Leu)
c.3622T>C (p.Phe1208Leu)
3g.38712343A>TCA352151201SCN10Ac.3907T>A (p.Phe1303Ile)
c.3904T>A (p.Phe1302Ile)
c.3931T>A (p.Phe1311Ile)
c.3613T>A (p.Phe1205Ile)
c.3916T>A (p.Phe1306Ile)
c.3913T>A (p.Phe1305Ile)
c.3622T>A (p.Phe1208Ile)
3g.38712344G>ACA433333980SCN10Ac.3906C>T (p.Leu1302=)
c.3903C>T (p.Leu1301=)
c.3930C>T (p.Leu1310=)
c.3612C>T (p.Leu1204=)
c.3915C>T (p.Leu1305=)
c.3912C>T (p.Leu1304=)
c.3621C>T (p.Leu1207=)
gnomAD v4 COSMIC
3g.38712344G>CCA433333981SCN10Ac.3906C>G (p.Leu1302=)
c.3903C>G (p.Leu1301=)
c.3930C>G (p.Leu1310=)
c.3612C>G (p.Leu1204=)
c.3915C>G (p.Leu1305=)
c.3912C>G (p.Leu1304=)
c.3621C>G (p.Leu1207=)
3g.38712344G>TCA433333982SCN10Ac.3906C>A (p.Leu1302=)
c.3903C>A (p.Leu1301=)
c.3930C>A (p.Leu1310=)
c.3612C>A (p.Leu1204=)
c.3915C>A (p.Leu1305=)
c.3912C>A (p.Leu1304=)
c.3621C>A (p.Leu1207=)
3g.38712345A>CCA352151204SCN10Ac.3905T>G (p.Leu1302Arg)
c.3902T>G (p.Leu1301Arg)
c.3929T>G (p.Leu1310Arg)
c.3611T>G (p.Leu1204Arg)
c.3914T>G (p.Leu1305Arg)
c.3911T>G (p.Leu1304Arg)
c.3620T>G (p.Leu1207Arg)
3g.38712345A>GCA352151202SCN10Ac.3905T>C (p.Leu1302Pro)
c.3902T>C (p.Leu1301Pro)
c.3929T>C (p.Leu1310Pro)
c.3611T>C (p.Leu1204Pro)
c.3914T>C (p.Leu1305Pro)
c.3911T>C (p.Leu1304Pro)
c.3620T>C (p.Leu1207Pro)
3g.38712345A>TCA352151203SCN10Ac.3905T>A (p.Leu1302His)
c.3902T>A (p.Leu1301His)
c.3929T>A (p.Leu1310His)
c.3611T>A (p.Leu1204His)
c.3914T>A (p.Leu1305His)
c.3911T>A (p.Leu1304His)
c.3620T>A (p.Leu1207His)
3g.38712346G>ACA352151205SCN10Ac.3904C>T (p.Leu1302Phe)
c.3901C>T (p.Leu1301Phe)
c.3928C>T (p.Leu1310Phe)
c.3610C>T (p.Leu1204Phe)
c.3913C>T (p.Leu1305Phe)
c.3910C>T (p.Leu1304Phe)
c.3619C>T (p.Leu1207Phe)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38712346G>CCA352151206SCN10Ac.3904C>G (p.Leu1302Val)
c.3901C>G (p.Leu1301Val)
c.3928C>G (p.Leu1310Val)
c.3610C>G (p.Leu1204Val)
c.3913C>G (p.Leu1305Val)
c.3910C>G (p.Leu1304Val)
c.3619C>G (p.Leu1207Val)
ClinVar dbSNP
3g.38712346G=CA1358633378SCN10Ac.3904C= (p.Leu1302=)
c.3901C= (p.Leu1301=)
c.3928C= (p.Leu1310=)
c.3610C= (p.Leu1204=)
c.3913C= (p.Leu1305=)
c.3910C= (p.Leu1304=)
c.3619C= (p.Leu1207=)
3g.38712346G>TCA352151207SCN10Ac.3904C>A (p.Leu1302Ile)
c.3901C>A (p.Leu1301Ile)
c.3928C>A (p.Leu1310Ile)
c.3610C>A (p.Leu1204Ile)
c.3913C>A (p.Leu1305Ile)
c.3910C>A (p.Leu1304Ile)
c.3619C>A (p.Leu1207Ile)
3g.38712347G>ACA433333985SCN10Ac.3903C>T (p.Asn1301=)
c.3900C>T (p.Asn1300=)
c.3927C>T (p.Asn1309=)
c.3609C>T (p.Asn1203=)
c.3912C>T (p.Asn1304=)
c.3909C>T (p.Asn1303=)
c.3618C>T (p.Asn1206=)
dbSNP gnomAD v2 gnomAD v4
3g.38712347G>CCA352151208SCN10Ac.3903C>G (p.Asn1301Lys)
c.3900C>G (p.Asn1300Lys)
c.3927C>G (p.Asn1309Lys)
c.3609C>G (p.Asn1203Lys)
c.3912C>G (p.Asn1304Lys)
c.3909C>G (p.Asn1303Lys)
c.3618C>G (p.Asn1206Lys)
3g.38712347G=CA1358633381SCN10Ac.3903C= (p.Asn1301=)
c.3900C= (p.Asn1300=)
c.3927C= (p.Asn1309=)
c.3609C= (p.Asn1203=)
c.3912C= (p.Asn1304=)
c.3909C= (p.Asn1303=)
c.3618C= (p.Asn1206=)
3g.38712347G>TCA72950509SCN10Ac.3903C>A (p.Asn1301Lys)
c.3900C>A (p.Asn1300Lys)
c.3927C>A (p.Asn1309Lys)
c.3609C>A (p.Asn1203Lys)
c.3912C>A (p.Asn1304Lys)
c.3909C>A (p.Asn1303Lys)
c.3618C>A (p.Asn1206Lys)
dbSNP COSMIC
3g.38712348T>ACA352151209SCN10Ac.3902A>T (p.Asn1301Ile)
c.3899A>T (p.Asn1300Ile)
c.3926A>T (p.Asn1309Ile)
c.3608A>T (p.Asn1203Ile)
c.3911A>T (p.Asn1304Ile)
c.3908A>T (p.Asn1303Ile)
c.3617A>T (p.Asn1206Ile)
3g.38712348T>CCA352151211SCN10Ac.3902A>G (p.Asn1301Ser)
c.3899A>G (p.Asn1300Ser)
c.3926A>G (p.Asn1309Ser)
c.3608A>G (p.Asn1203Ser)
c.3911A>G (p.Asn1304Ser)
c.3908A>G (p.Asn1303Ser)
c.3617A>G (p.Asn1206Ser)
gnomAD v4
3g.38712348T>GCA352151210SCN10Ac.3902A>C (p.Asn1301Thr)
c.3899A>C (p.Asn1300Thr)
c.3926A>C (p.Asn1309Thr)
c.3608A>C (p.Asn1203Thr)
c.3911A>C (p.Asn1304Thr)
c.3908A>C (p.Asn1303Thr)
c.3617A>C (p.Asn1206Thr)
COSMIC
3g.38712349T>ACA352151212SCN10Ac.3901A>T (p.Asn1301Tyr)
c.3898A>T (p.Asn1300Tyr)
c.3925A>T (p.Asn1309Tyr)
c.3607A>T (p.Asn1203Tyr)
c.3910A>T (p.Asn1304Tyr)
c.3907A>T (p.Asn1303Tyr)
c.3616A>T (p.Asn1206Tyr)
3g.38712349T>CCA352151213SCN10Ac.3901A>G (p.Asn1301Asp)
c.3898A>G (p.Asn1300Asp)
c.3925A>G (p.Asn1309Asp)
c.3607A>G (p.Asn1203Asp)
c.3910A>G (p.Asn1304Asp)
c.3907A>G (p.Asn1303Asp)
c.3616A>G (p.Asn1206Asp)
3g.38712349T>GCA352151214SCN10Ac.3901A>C (p.Asn1301His)
c.3898A>C (p.Asn1300His)
c.3925A>C (p.Asn1309His)
c.3607A>C (p.Asn1203His)
c.3910A>C (p.Asn1304His)
c.3907A>C (p.Asn1303His)
c.3616A>C (p.Asn1206His)
3g.38712350C>ACA433333992SCN10Ac.3900G>T (p.Val1300=)
c.3897G>T (p.Val1299=)
c.3924G>T (p.Val1308=)
c.3606G>T (p.Val1202=)
c.3909G>T (p.Val1303=)
c.3906G>T (p.Val1302=)
c.3615G>T (p.Val1205=)
3g.38712350C>GCA433333994SCN10Ac.3900G>C (p.Val1300=)
c.3897G>C (p.Val1299=)
c.3924G>C (p.Val1308=)
c.3606G>C (p.Val1202=)
c.3909G>C (p.Val1303=)
c.3906G>C (p.Val1302=)
c.3615G>C (p.Val1205=)
gnomAD v4
3g.38712350C>TCA433333995SCN10Ac.3900G>A (p.Val1300=)
c.3897G>A (p.Val1299=)
c.3924G>A (p.Val1308=)
c.3606G>A (p.Val1202=)
c.3909G>A (p.Val1303=)
c.3906G>A (p.Val1302=)
c.3615G>A (p.Val1205=)
3g.38712351A>CCA352151215SCN10Ac.3899T>G (p.Val1300Gly)
c.3896T>G (p.Val1299Gly)
c.3923T>G (p.Val1308Gly)
c.3605T>G (p.Val1202Gly)
c.3908T>G (p.Val1303Gly)
c.3905T>G (p.Val1302Gly)
c.3614T>G (p.Val1205Gly)
3g.38712351A>GCA352151216SCN10Ac.3899T>C (p.Val1300Ala)
c.3896T>C (p.Val1299Ala)
c.3923T>C (p.Val1308Ala)
c.3605T>C (p.Val1202Ala)
c.3908T>C (p.Val1303Ala)
c.3905T>C (p.Val1302Ala)
c.3614T>C (p.Val1205Ala)
3g.38712351A>TCA352151217SCN10Ac.3899T>A (p.Val1300Glu)
c.3896T>A (p.Val1299Glu)
c.3923T>A (p.Val1308Glu)
c.3605T>A (p.Val1202Glu)
c.3908T>A (p.Val1303Glu)
c.3905T>A (p.Val1302Glu)
c.3614T>A (p.Val1205Glu)
3g.38712352C>ACA352151218SCN10Ac.3898G>T (p.Val1300Leu)
c.3895G>T (p.Val1299Leu)
c.3922G>T (p.Val1308Leu)
c.3604G>T (p.Val1202Leu)
c.3907G>T (p.Val1303Leu)
c.3904G>T (p.Val1302Leu)
c.3613G>T (p.Val1205Leu)
3g.38712352C>GCA352151219SCN10Ac.3898G>C (p.Val1300Leu)
c.3895G>C (p.Val1299Leu)
c.3922G>C (p.Val1308Leu)
c.3604G>C (p.Val1202Leu)
c.3907G>C (p.Val1303Leu)
c.3904G>C (p.Val1302Leu)
c.3613G>C (p.Val1205Leu)
3g.38712352C>TCA352151220SCN10Ac.3898G>A (p.Val1300Met)
c.3895G>A (p.Val1299Met)
c.3922G>A (p.Val1308Met)
c.3604G>A (p.Val1202Met)
c.3907G>A (p.Val1303Met)
c.3904G>A (p.Val1302Met)
c.3613G>A (p.Val1205Met)
3g.38712353A=CA1358633383SCN10Ac.3897T= (p.Gly1299=)
c.3894T= (p.Gly1298=)
c.3921T= (p.Gly1307=)
c.3603T= (p.Gly1201=)
c.3906T= (p.Gly1302=)
c.3903T= (p.Gly1301=)
c.3612T= (p.Gly1204=)
3g.38712353A>CCA433333996SCN10Ac.3897T>G (p.Gly1299=)
c.3894T>G (p.Gly1298=)
c.3921T>G (p.Gly1307=)
c.3603T>G (p.Gly1201=)
c.3906T>G (p.Gly1302=)
c.3903T>G (p.Gly1301=)
c.3612T>G (p.Gly1204=)
3g.38712353A>GCA433333999SCN10Ac.3897T>C (p.Gly1299=)
c.3894T>C (p.Gly1298=)
c.3921T>C (p.Gly1307=)
c.3603T>C (p.Gly1201=)
c.3906T>C (p.Gly1302=)
c.3903T>C (p.Gly1301=)
c.3612T>C (p.Gly1204=)
dbSNP
3g.38712353A>TCA433333997SCN10Ac.3897T>A (p.Gly1299=)
c.3894T>A (p.Gly1298=)
c.3921T>A (p.Gly1307=)
c.3603T>A (p.Gly1201=)
c.3906T>A (p.Gly1302=)
c.3903T>A (p.Gly1301=)
c.3612T>A (p.Gly1204=)
dbSNP
3g.38712354C>ACA352151221SCN10Ac.3896G>T (p.Gly1299Val)
c.3893G>T (p.Gly1298Val)
c.3920G>T (p.Gly1307Val)
c.3602G>T (p.Gly1201Val)
c.3905G>T (p.Gly1302Val)
c.3902G>T (p.Gly1301Val)
c.3611G>T (p.Gly1204Val)
ClinVar dbSNP gnomAD v4
3g.38712354C>GCA352151222SCN10Ac.3896G>C (p.Gly1299Ala)
c.3893G>C (p.Gly1298Ala)
c.3920G>C (p.Gly1307Ala)
c.3602G>C (p.Gly1201Ala)
c.3905G>C (p.Gly1302Ala)
c.3902G>C (p.Gly1301Ala)
c.3611G>C (p.Gly1204Ala)

Number of alleles fetched