Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
3g.38712354C>TCA352151223SCN10Ac.3896G>A (p.Gly1299Asp)
c.3893G>A (p.Gly1298Asp)
c.3920G>A (p.Gly1307Asp)
c.3602G>A (p.Gly1201Asp)
c.3905G>A (p.Gly1302Asp)
c.3902G>A (p.Gly1301Asp)
c.3611G>A (p.Gly1204Asp)
 gnomAD v4
3g.38712355C>ACA352151224SCN10Ac.3895G>T (p.Gly1299Cys)
c.3892G>T (p.Gly1298Cys)
c.3919G>T (p.Gly1307Cys)
c.3601G>T (p.Gly1201Cys)
c.3904G>T (p.Gly1302Cys)
c.3901G>T (p.Gly1301Cys)
c.3610G>T (p.Gly1204Cys)
3g.38712355C=CA1358633387SCN10Ac.3895G= (p.Gly1299=)
c.3892G= (p.Gly1298=)
c.3919G= (p.Gly1307=)
c.3601G= (p.Gly1201=)
c.3904G= (p.Gly1302=)
c.3901G= (p.Gly1301=)
c.3610G= (p.Gly1204=)
3g.38712355C>GCA352151225SCN10Ac.3895G>C (p.Gly1299Arg)
c.3892G>C (p.Gly1298Arg)
c.3919G>C (p.Gly1307Arg)
c.3601G>C (p.Gly1201Arg)
c.3904G>C (p.Gly1302Arg)
c.3901G>C (p.Gly1301Arg)
c.3610G>C (p.Gly1204Arg)
3g.38712355C>TCA72950512SCN10Ac.3895G>A (p.Gly1299Ser)
c.3892G>A (p.Gly1298Ser)
c.3919G>A (p.Gly1307Ser)
c.3601G>A (p.Gly1201Ser)
c.3904G>A (p.Gly1302Ser)
c.3901G>A (p.Gly1301Ser)
c.3610G>A (p.Gly1204Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38712355_38712356insTTCA2665099742SCN10Ac.3894_3895insAA (p.Gly1299LysfsTer3)
c.3891_3892insAA (p.Gly1298LysfsTer3)
c.3918_3919insAA (p.Gly1307LysfsTer3)
c.3600_3601insAA (p.Gly1201LysfsTer3)
c.3903_3904insAA (p.Gly1302LysfsTer3)
c.3900_3901insAA (p.Gly1301LysfsTer3)
c.3609_3610insAA (p.Gly1204LysfsTer3)
 gnomAD v4
3g.38712356C>ACA2320073SCN10Ac.3894G>T (p.Met1298Ile)
c.3891G>T (p.Met1297Ile)
c.3918G>T (p.Met1306Ile)
c.3600G>T (p.Met1200Ile)
c.3903G>T (p.Met1301Ile)
c.3900G>T (p.Met1300Ile)
c.3609G>T (p.Met1203Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712356C=CA1358633392SCN10Ac.3894G= (p.Met1298=)
c.3891G= (p.Met1297=)
c.3918G= (p.Met1306=)
c.3600G= (p.Met1200=)
c.3903G= (p.Met1301=)
c.3900G= (p.Met1300=)
c.3609G= (p.Met1203=)
3g.38712356C>GCA352151226SCN10Ac.3894G>C (p.Met1298Ile)
c.3891G>C (p.Met1297Ile)
c.3918G>C (p.Met1306Ile)
c.3600G>C (p.Met1200Ile)
c.3903G>C (p.Met1301Ile)
c.3900G>C (p.Met1300Ile)
c.3609G>C (p.Met1203Ile)
3g.38712356C>TCA352151227SCN10Ac.3894G>A (p.Met1298Ile)
c.3891G>A (p.Met1297Ile)
c.3918G>A (p.Met1306Ile)
c.3600G>A (p.Met1200Ile)
c.3903G>A (p.Met1301Ile)
c.3900G>A (p.Met1300Ile)
c.3609G>A (p.Met1203Ile)
3g.38712357delCA2665099744SCN10Ac.3893del (p.Met1298ArgfsTer3)
c.3890del (p.Met1297ArgfsTer3)
c.3917del (p.Met1306ArgfsTer3)
c.3599del (p.Met1200ArgfsTer3)
c.3902del (p.Met1301ArgfsTer3)
c.3899del (p.Met1300ArgfsTer3)
c.3608del (p.Met1203ArgfsTer3)
 gnomAD v4
3g.38712357A=CA1358633394SCN10Ac.3893T= (p.Met1298=)
c.3890T= (p.Met1297=)
c.3917T= (p.Met1306=)
c.3599T= (p.Met1200=)
c.3902T= (p.Met1301=)
c.3899T= (p.Met1300=)
c.3608T= (p.Met1203=)
3g.38712357A>CCA352151228SCN10Ac.3893T>G (p.Met1298Arg)
c.3890T>G (p.Met1297Arg)
c.3917T>G (p.Met1306Arg)
c.3599T>G (p.Met1200Arg)
c.3902T>G (p.Met1301Arg)
c.3899T>G (p.Met1300Arg)
c.3608T>G (p.Met1203Arg)
3g.38712357A>GCA2320074SCN10Ac.3893T>C (p.Met1298Thr)
c.3890T>C (p.Met1297Thr)
c.3917T>C (p.Met1306Thr)
c.3599T>C (p.Met1200Thr)
c.3902T>C (p.Met1301Thr)
c.3899T>C (p.Met1300Thr)
c.3608T>C (p.Met1203Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712357A>TCA352151229SCN10Ac.3893T>A (p.Met1298Lys)
c.3890T>A (p.Met1297Lys)
c.3917T>A (p.Met1306Lys)
c.3599T>A (p.Met1200Lys)
c.3902T>A (p.Met1301Lys)
c.3899T>A (p.Met1300Lys)
c.3608T>A (p.Met1203Lys)
3g.38712358T>ACA352151230SCN10Ac.3892A>T (p.Met1298Leu)
c.3889A>T (p.Met1297Leu)
c.3916A>T (p.Met1306Leu)
c.3598A>T (p.Met1200Leu)
c.3901A>T (p.Met1301Leu)
c.3898A>T (p.Met1300Leu)
c.3607A>T (p.Met1203Leu)
3g.38712358T>CCA352151231SCN10Ac.3892A>G (p.Met1298Val)
c.3889A>G (p.Met1297Val)
c.3916A>G (p.Met1306Val)
c.3598A>G (p.Met1200Val)
c.3901A>G (p.Met1301Val)
c.3898A>G (p.Met1300Val)
c.3607A>G (p.Met1203Val)
3g.38712358T>GCA352151232SCN10Ac.3892A>C (p.Met1298Leu)
c.3889A>C (p.Met1297Leu)
c.3916A>C (p.Met1306Leu)
c.3598A>C (p.Met1200Leu)
c.3901A>C (p.Met1301Leu)
c.3898A>C (p.Met1300Leu)
c.3607A>C (p.Met1203Leu)
3g.38712359G>ACA433334004SCN10Ac.3891C>T (p.Ile1297=)
c.3888C>T (p.Ile1296=)
c.3915C>T (p.Ile1305=)
c.3597C>T (p.Ile1199=)
c.3900C>T (p.Ile1300=)
c.3897C>T (p.Ile1299=)
c.3606C>T (p.Ile1202=)
 gnomAD v4
3g.38712359G>CCA352151233SCN10Ac.3891C>G (p.Ile1297Met)
c.3888C>G (p.Ile1296Met)
c.3915C>G (p.Ile1305Met)
c.3597C>G (p.Ile1199Met)
c.3900C>G (p.Ile1300Met)
c.3897C>G (p.Ile1299Met)
c.3606C>G (p.Ile1202Met)
3g.38712359G>TCA433334006SCN10Ac.3891C>A (p.Ile1297=)
c.3888C>A (p.Ile1296=)
c.3915C>A (p.Ile1305=)
c.3597C>A (p.Ile1199=)
c.3900C>A (p.Ile1300=)
c.3897C>A (p.Ile1299=)
c.3606C>A (p.Ile1202=)
3g.38712360A=CA1358633398SCN10Ac.3890T= (p.Ile1297=)
c.3887T= (p.Ile1296=)
c.3914T= (p.Ile1305=)
c.3596T= (p.Ile1199=)
c.3899T= (p.Ile1300=)
c.3896T= (p.Ile1299=)
c.3605T= (p.Ile1202=)
3g.38712360A>CCA72950521SCN10Ac.3890T>G (p.Ile1297Ser)
c.3887T>G (p.Ile1296Ser)
c.3914T>G (p.Ile1305Ser)
c.3596T>G (p.Ile1199Ser)
c.3899T>G (p.Ile1300Ser)
c.3896T>G (p.Ile1299Ser)
c.3605T>G (p.Ile1202Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712360A>GCA352151234SCN10Ac.3890T>C (p.Ile1297Thr)
c.3887T>C (p.Ile1296Thr)
c.3914T>C (p.Ile1305Thr)
c.3596T>C (p.Ile1199Thr)
c.3899T>C (p.Ile1300Thr)
c.3896T>C (p.Ile1299Thr)
c.3605T>C (p.Ile1202Thr)
 gnomAD v4
3g.38712360A>TCA352151235SCN10Ac.3890T>A (p.Ile1297Asn)
c.3887T>A (p.Ile1296Asn)
c.3914T>A (p.Ile1305Asn)
c.3596T>A (p.Ile1199Asn)
c.3899T>A (p.Ile1300Asn)
c.3896T>A (p.Ile1299Asn)
c.3605T>A (p.Ile1202Asn)
 gnomAD v4
3g.38712360_38712361delCA2665099755SCN10Ac.3889_3890del (p.Ile1297HisfsTer?)
c.3886_3887del (p.Ile1296HisfsTer?)
c.3913_3914del (p.Ile1305HisfsTer?)
c.3595_3596del (p.Ile1199HisfsTer?)
c.3898_3899del (p.Ile1300HisfsTer?)
c.3895_3896del (p.Ile1299HisfsTer?)
c.3604_3605del (p.Ile1202HisfsTer?)
 gnomAD v4
3g.38712361T>ACA352151236SCN10Ac.3889A>T (p.Ile1297Phe)
c.3886A>T (p.Ile1296Phe)
c.3913A>T (p.Ile1305Phe)
c.3595A>T (p.Ile1199Phe)
c.3898A>T (p.Ile1300Phe)
c.3895A>T (p.Ile1299Phe)
c.3604A>T (p.Ile1202Phe)
 gnomAD v4
3g.38712361T>CCA352151237SCN10Ac.3889A>G (p.Ile1297Val)
c.3886A>G (p.Ile1296Val)
c.3913A>G (p.Ile1305Val)
c.3595A>G (p.Ile1199Val)
c.3898A>G (p.Ile1300Val)
c.3895A>G (p.Ile1299Val)
c.3604A>G (p.Ile1202Val)
3g.38712361T>GCA352151238SCN10Ac.3889A>C (p.Ile1297Leu)
c.3886A>C (p.Ile1296Leu)
c.3913A>C (p.Ile1305Leu)
c.3595A>C (p.Ile1199Leu)
c.3898A>C (p.Ile1300Leu)
c.3895A>C (p.Ile1299Leu)
c.3604A>C (p.Ile1202Leu)
3g.38712362G>ACA433334010SCN10Ac.3888C>T (p.Ser1296=)
c.3885C>T (p.Ser1295=)
c.3912C>T (p.Ser1304=)
c.3594C>T (p.Ser1198=)
c.3897C>T (p.Ser1299=)
c.3894C>T (p.Ser1298=)
c.3603C>T (p.Ser1201=)
3g.38712362G>CCA352151239SCN10Ac.3888C>G (p.Ser1296Arg)
c.3885C>G (p.Ser1295Arg)
c.3912C>G (p.Ser1304Arg)
c.3594C>G (p.Ser1198Arg)
c.3897C>G (p.Ser1299Arg)
c.3894C>G (p.Ser1298Arg)
c.3603C>G (p.Ser1201Arg)
3g.38712362G>TCA352151240SCN10Ac.3888C>A (p.Ser1296Arg)
c.3885C>A (p.Ser1295Arg)
c.3912C>A (p.Ser1304Arg)
c.3594C>A (p.Ser1198Arg)
c.3897C>A (p.Ser1299Arg)
c.3894C>A (p.Ser1298Arg)
c.3603C>A (p.Ser1201Arg)
3g.38712363C>ACA2320075SCN10Ac.3887G>T (p.Ser1296Ile)
c.3884G>T (p.Ser1295Ile)
c.3911G>T (p.Ser1304Ile)
c.3593G>T (p.Ser1198Ile)
c.3896G>T (p.Ser1299Ile)
c.3893G>T (p.Ser1298Ile)
c.3602G>T (p.Ser1201Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712363C=CA1358633404SCN10Ac.3887G= (p.Ser1296=)
c.3884G= (p.Ser1295=)
c.3911G= (p.Ser1304=)
c.3593G= (p.Ser1198=)
c.3896G= (p.Ser1299=)
c.3893G= (p.Ser1298=)
c.3602G= (p.Ser1201=)
3g.38712363C>GCA352151242SCN10Ac.3887G>C (p.Ser1296Thr)
c.3884G>C (p.Ser1295Thr)
c.3911G>C (p.Ser1304Thr)
c.3593G>C (p.Ser1198Thr)
c.3896G>C (p.Ser1299Thr)
c.3893G>C (p.Ser1298Thr)
c.3602G>C (p.Ser1201Thr)
3g.38712363C>TCA352151241SCN10Ac.3887G>A (p.Ser1296Asn)
c.3884G>A (p.Ser1295Asn)
c.3911G>A (p.Ser1304Asn)
c.3593G>A (p.Ser1198Asn)
c.3896G>A (p.Ser1299Asn)
c.3893G>A (p.Ser1298Asn)
c.3602G>A (p.Ser1201Asn)
 gnomAD v4
3g.38712364T>ACA352151243SCN10Ac.3886A>T (p.Ser1296Cys)
c.3883A>T (p.Ser1295Cys)
c.3910A>T (p.Ser1304Cys)
c.3592A>T (p.Ser1198Cys)
c.3895A>T (p.Ser1299Cys)
c.3892A>T (p.Ser1298Cys)
c.3601A>T (p.Ser1201Cys)
3g.38712364T>CCA352151244SCN10Ac.3886A>G (p.Ser1296Gly)
c.3883A>G (p.Ser1295Gly)
c.3910A>G (p.Ser1304Gly)
c.3592A>G (p.Ser1198Gly)
c.3895A>G (p.Ser1299Gly)
c.3892A>G (p.Ser1298Gly)
c.3601A>G (p.Ser1201Gly)
3g.38712364T>GCA352151245SCN10Ac.3886A>C (p.Ser1296Arg)
c.3883A>C (p.Ser1295Arg)
c.3910A>C (p.Ser1304Arg)
c.3592A>C (p.Ser1198Arg)
c.3895A>C (p.Ser1299Arg)
c.3892A>C (p.Ser1298Arg)
c.3601A>C (p.Ser1201Arg)
3g.38712365G>ACA433334014SCN10Ac.3885C>T (p.Phe1295=)
c.3882C>T (p.Phe1294=)
c.3909C>T (p.Phe1303=)
c.3591C>T (p.Phe1197=)
c.3894C>T (p.Phe1298=)
c.3891C>T (p.Phe1297=)
c.3600C>T (p.Phe1200=)
3g.38712365G>CCA352151246SCN10Ac.3885C>G (p.Phe1295Leu)
c.3882C>G (p.Phe1294Leu)
c.3909C>G (p.Phe1303Leu)
c.3591C>G (p.Phe1197Leu)
c.3894C>G (p.Phe1298Leu)
c.3891C>G (p.Phe1297Leu)
c.3600C>G (p.Phe1200Leu)
 dbSNP
3g.38712365G=CA1358633407SCN10Ac.3885C= (p.Phe1295=)
c.3882C= (p.Phe1294=)
c.3909C= (p.Phe1303=)
c.3591C= (p.Phe1197=)
c.3894C= (p.Phe1298=)
c.3891C= (p.Phe1297=)
c.3600C= (p.Phe1200=)
3g.38712365G>TCA352151247SCN10Ac.3885C>A (p.Phe1295Leu)
c.3882C>A (p.Phe1294Leu)
c.3909C>A (p.Phe1303Leu)
c.3591C>A (p.Phe1197Leu)
c.3894C>A (p.Phe1298Leu)
c.3891C>A (p.Phe1297Leu)
c.3600C>A (p.Phe1200Leu)
3g.38712365_38712366delinsGACA1358633408SCN10Ac.3884_3885delinsTC (p.Phe1295=)
c.3881_3882delinsTC (p.Phe1294=)
c.3908_3909delinsTC (p.Phe1303=)
c.3590_3591delinsTC (p.Phe1197=)
c.3893_3894delinsTC (p.Phe1298=)
c.3890_3891delinsTC (p.Phe1297=)
c.3599_3600delinsTC (p.Phe1200=)
3g.38712374_38712385delCA2665099778SCN10Ac.3874_3885del (p.Trp1292_Phe1295del)
c.3871_3882del (p.Trp1291_Phe1294del)
c.3898_3909del (p.Trp1300_Phe1303del)
c.3580_3591del (p.Trp1194_Phe1197del)
c.3883_3894del (p.Trp1295_Phe1298del)
c.3880_3891del (p.Trp1294_Phe1297del)
c.3589_3600del (p.Trp1197_Phe1200del)
 gnomAD v4
3g.38712366A=CA1358633411SCN10Ac.3884T= (p.Phe1295=)
c.3881T= (p.Phe1294=)
c.3908T= (p.Phe1303=)
c.3590T= (p.Phe1197=)
c.3893T= (p.Phe1298=)
c.3890T= (p.Phe1297=)
c.3599T= (p.Phe1200=)
3g.38712366A>CCA352151248SCN10Ac.3884T>G (p.Phe1295Cys)
c.3881T>G (p.Phe1294Cys)
c.3908T>G (p.Phe1303Cys)
c.3590T>G (p.Phe1197Cys)
c.3893T>G (p.Phe1298Cys)
c.3890T>G (p.Phe1297Cys)
c.3599T>G (p.Phe1200Cys)
3g.38712366A>GCA352151249SCN10Ac.3884T>C (p.Phe1295Ser)
c.3881T>C (p.Phe1294Ser)
c.3908T>C (p.Phe1303Ser)
c.3590T>C (p.Phe1197Ser)
c.3893T>C (p.Phe1298Ser)
c.3890T>C (p.Phe1297Ser)
c.3599T>C (p.Phe1200Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712366A>TCA352151250SCN10Ac.3884T>A (p.Phe1295Tyr)
c.3881T>A (p.Phe1294Tyr)
c.3908T>A (p.Phe1303Tyr)
c.3590T>A (p.Phe1197Tyr)
c.3893T>A (p.Phe1298Tyr)
c.3890T>A (p.Phe1297Tyr)
c.3599T>A (p.Phe1200Tyr)
3g.38712367delCA433334016SCN10Ac.3884del (p.Phe1295SerfsTer6)
c.3881del (p.Phe1294SerfsTer6)
c.3908del (p.Phe1303SerfsTer6)
c.3590del (p.Phe1197SerfsTer6)
c.3893del (p.Phe1298SerfsTer6)
c.3890del (p.Phe1297SerfsTer6)
c.3599del (p.Phe1200SerfsTer6)
 ClinVar dbSNP gnomAD v4
3g.38712367A>CCA352151251SCN10Ac.3883T>G (p.Phe1295Val)
c.3880T>G (p.Phe1294Val)
c.3907T>G (p.Phe1303Val)
c.3589T>G (p.Phe1197Val)
c.3892T>G (p.Phe1298Val)
c.3889T>G (p.Phe1297Val)
c.3598T>G (p.Phe1200Val)
3g.38712367A>GCA352151252SCN10Ac.3883T>C (p.Phe1295Leu)
c.3880T>C (p.Phe1294Leu)
c.3907T>C (p.Phe1303Leu)
c.3589T>C (p.Phe1197Leu)
c.3892T>C (p.Phe1298Leu)
c.3889T>C (p.Phe1297Leu)
c.3598T>C (p.Phe1200Leu)
3g.38712367A>TCA352151253SCN10Ac.3883T>A (p.Phe1295Ile)
c.3880T>A (p.Phe1294Ile)
c.3907T>A (p.Phe1303Ile)
c.3589T>A (p.Phe1197Ile)
c.3892T>A (p.Phe1298Ile)
c.3889T>A (p.Phe1297Ile)
c.3598T>A (p.Phe1200Ile)
3g.38712368G>ACA433334017SCN10Ac.3882C>T (p.Ile1294=)
c.3879C>T (p.Ile1293=)
c.3906C>T (p.Ile1302=)
c.3588C>T (p.Ile1196=)
c.3891C>T (p.Ile1297=)
c.3888C>T (p.Ile1296=)
c.3597C>T (p.Ile1199=)
 gnomAD v4
3g.38712368G>CCA352151254SCN10Ac.3882C>G (p.Ile1294Met)
c.3879C>G (p.Ile1293Met)
c.3906C>G (p.Ile1302Met)
c.3588C>G (p.Ile1196Met)
c.3891C>G (p.Ile1297Met)
c.3888C>G (p.Ile1296Met)
c.3597C>G (p.Ile1199Met)
3g.38712368G>TCA433334019SCN10Ac.3882C>A (p.Ile1294=)
c.3879C>A (p.Ile1293=)
c.3906C>A (p.Ile1302=)
c.3588C>A (p.Ile1196=)
c.3891C>A (p.Ile1297=)
c.3888C>A (p.Ile1296=)
c.3597C>A (p.Ile1199=)
3g.38712369A>CCA352151255SCN10Ac.3881T>G (p.Ile1294Ser)
c.3878T>G (p.Ile1293Ser)
c.3905T>G (p.Ile1302Ser)
c.3587T>G (p.Ile1196Ser)
c.3890T>G (p.Ile1297Ser)
c.3887T>G (p.Ile1296Ser)
c.3596T>G (p.Ile1199Ser)
3g.38712369A>GCA352151257SCN10Ac.3881T>C (p.Ile1294Thr)
c.3878T>C (p.Ile1293Thr)
c.3905T>C (p.Ile1302Thr)
c.3587T>C (p.Ile1196Thr)
c.3890T>C (p.Ile1297Thr)
c.3887T>C (p.Ile1296Thr)
c.3596T>C (p.Ile1199Thr)
3g.38712369A>TCA352151256SCN10Ac.3881T>A (p.Ile1294Asn)
c.3878T>A (p.Ile1293Asn)
c.3905T>A (p.Ile1302Asn)
c.3587T>A (p.Ile1196Asn)
c.3890T>A (p.Ile1297Asn)
c.3887T>A (p.Ile1296Asn)
c.3596T>A (p.Ile1199Asn)
3g.38712370T>ACA352151258SCN10Ac.3880A>T (p.Ile1294Phe)
c.3877A>T (p.Ile1293Phe)
c.3904A>T (p.Ile1302Phe)
c.3586A>T (p.Ile1196Phe)
c.3889A>T (p.Ile1297Phe)
c.3886A>T (p.Ile1296Phe)
c.3595A>T (p.Ile1199Phe)
3g.38712370T>CCA352151259SCN10Ac.3880A>G (p.Ile1294Val)
c.3877A>G (p.Ile1293Val)
c.3904A>G (p.Ile1302Val)
c.3586A>G (p.Ile1196Val)
c.3889A>G (p.Ile1297Val)
c.3886A>G (p.Ile1296Val)
c.3595A>G (p.Ile1199Val)
3g.38712370T>GCA352151260SCN10Ac.3880A>C (p.Ile1294Leu)
c.3877A>C (p.Ile1293Leu)
c.3904A>C (p.Ile1302Leu)
c.3586A>C (p.Ile1196Leu)
c.3889A>C (p.Ile1297Leu)
c.3886A>C (p.Ile1296Leu)
c.3595A>C (p.Ile1199Leu)
3g.38712371G>ACA433334022SCN10Ac.3879C>T (p.Leu1293=)
c.3876C>T (p.Leu1292=)
c.3903C>T (p.Leu1301=)
c.3585C>T (p.Leu1195=)
c.3888C>T (p.Leu1296=)
c.3885C>T (p.Leu1295=)
c.3594C>T (p.Leu1198=)
 ClinVar
3g.38712371G>CCA433334023SCN10Ac.3879C>G (p.Leu1293=)
c.3876C>G (p.Leu1292=)
c.3903C>G (p.Leu1301=)
c.3585C>G (p.Leu1195=)
c.3888C>G (p.Leu1296=)
c.3885C>G (p.Leu1295=)
c.3594C>G (p.Leu1198=)
 dbSNP gnomAD v4
3g.38712371G=CA1358633416SCN10Ac.3879C= (p.Leu1293=)
c.3876C= (p.Leu1292=)
c.3903C= (p.Leu1301=)
c.3585C= (p.Leu1195=)
c.3888C= (p.Leu1296=)
c.3885C= (p.Leu1295=)
c.3594C= (p.Leu1198=)
3g.38712371G>TCA433334024SCN10Ac.3879C>A (p.Leu1293=)
c.3876C>A (p.Leu1292=)
c.3903C>A (p.Leu1301=)
c.3585C>A (p.Leu1195=)
c.3888C>A (p.Leu1296=)
c.3885C>A (p.Leu1295=)
c.3594C>A (p.Leu1198=)
3g.38712372A=CA1358633419SCN10Ac.3878T= (p.Leu1293=)
c.3875T= (p.Leu1292=)
c.3902T= (p.Leu1301=)
c.3584T= (p.Leu1195=)
c.3887T= (p.Leu1296=)
c.3884T= (p.Leu1295=)
c.3593T= (p.Leu1198=)
3g.38712372A>CCA352151261SCN10Ac.3878T>G (p.Leu1293Arg)
c.3875T>G (p.Leu1292Arg)
c.3902T>G (p.Leu1301Arg)
c.3584T>G (p.Leu1195Arg)
c.3887T>G (p.Leu1296Arg)
c.3884T>G (p.Leu1295Arg)
c.3593T>G (p.Leu1198Arg)
 dbSNP
3g.38712372A>GCA352151262SCN10Ac.3878T>C (p.Leu1293Pro)
c.3875T>C (p.Leu1292Pro)
c.3902T>C (p.Leu1301Pro)
c.3584T>C (p.Leu1195Pro)
c.3887T>C (p.Leu1296Pro)
c.3884T>C (p.Leu1295Pro)
c.3593T>C (p.Leu1198Pro)
3g.38712372A>TCA352151263SCN10Ac.3878T>A (p.Leu1293His)
c.3875T>A (p.Leu1292His)
c.3902T>A (p.Leu1301His)
c.3584T>A (p.Leu1195His)
c.3887T>A (p.Leu1296His)
c.3884T>A (p.Leu1295His)
c.3593T>A (p.Leu1198His)
 dbSNP gnomAD v4
3g.38712373G>ACA352151264SCN10Ac.3877C>T (p.Leu1293Phe)
c.3874C>T (p.Leu1292Phe)
c.3901C>T (p.Leu1301Phe)
c.3583C>T (p.Leu1195Phe)
c.3886C>T (p.Leu1296Phe)
c.3883C>T (p.Leu1295Phe)
c.3592C>T (p.Leu1198Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.38712373G>CCA352151265SCN10Ac.3877C>G (p.Leu1293Val)
c.3874C>G (p.Leu1292Val)
c.3901C>G (p.Leu1301Val)
c.3583C>G (p.Leu1195Val)
c.3886C>G (p.Leu1296Val)
c.3883C>G (p.Leu1295Val)
c.3592C>G (p.Leu1198Val)
3g.38712373G=CA1358633421SCN10Ac.3877C= (p.Leu1293=)
c.3874C= (p.Leu1292=)
c.3901C= (p.Leu1301=)
c.3583C= (p.Leu1195=)
c.3886C= (p.Leu1296=)
c.3883C= (p.Leu1295=)
c.3592C= (p.Leu1198=)
3g.38712373G>TCA352151266SCN10Ac.3877C>A (p.Leu1293Ile)
c.3874C>A (p.Leu1292Ile)
c.3901C>A (p.Leu1301Ile)
c.3583C>A (p.Leu1195Ile)
c.3886C>A (p.Leu1296Ile)
c.3883C>A (p.Leu1295Ile)
c.3592C>A (p.Leu1198Ile)
3g.38712374C>ACA352151267SCN10Ac.3876G>T (p.Trp1292Cys)
c.3873G>T (p.Trp1291Cys)
c.3900G>T (p.Trp1300Cys)
c.3582G>T (p.Trp1194Cys)
c.3885G>T (p.Trp1295Cys)
c.3882G>T (p.Trp1294Cys)
c.3591G>T (p.Trp1197Cys)
 dbSNP gnomAD v3 gnomAD v4
3g.38712374C=CA1358633425SCN10Ac.3876G= (p.Trp1292=)
c.3873G= (p.Trp1291=)
c.3900G= (p.Trp1300=)
c.3582G= (p.Trp1194=)
c.3885G= (p.Trp1295=)
c.3882G= (p.Trp1294=)
c.3591G= (p.Trp1197=)
3g.38712374C>GCA352151268SCN10Ac.3876G>C (p.Trp1292Cys)
c.3873G>C (p.Trp1291Cys)
c.3900G>C (p.Trp1300Cys)
c.3582G>C (p.Trp1194Cys)
c.3885G>C (p.Trp1295Cys)
c.3882G>C (p.Trp1294Cys)
c.3591G>C (p.Trp1197Cys)
3g.38712374C>TCA352151269SCN10Ac.3876G>A (p.Trp1292Ter)
c.3873G>A (p.Trp1291Ter)
c.3900G>A (p.Trp1300Ter)
c.3582G>A (p.Trp1194Ter)
c.3885G>A (p.Trp1295Ter)
c.3882G>A (p.Trp1294Ter)
c.3591G>A (p.Trp1197Ter)
3g.38712375C>ACA352151272SCN10Ac.3875G>T (p.Trp1292Leu)
c.3872G>T (p.Trp1291Leu)
c.3899G>T (p.Trp1300Leu)
c.3581G>T (p.Trp1194Leu)
c.3884G>T (p.Trp1295Leu)
c.3881G>T (p.Trp1294Leu)
c.3590G>T (p.Trp1197Leu)
3g.38712375C>GCA352151270SCN10Ac.3875G>C (p.Trp1292Ser)
c.3872G>C (p.Trp1291Ser)
c.3899G>C (p.Trp1300Ser)
c.3581G>C (p.Trp1194Ser)
c.3884G>C (p.Trp1295Ser)
c.3881G>C (p.Trp1294Ser)
c.3590G>C (p.Trp1197Ser)
3g.38712375C>TCA352151271SCN10Ac.3875G>A (p.Trp1292Ter)
c.3872G>A (p.Trp1291Ter)
c.3899G>A (p.Trp1300Ter)
c.3581G>A (p.Trp1194Ter)
c.3884G>A (p.Trp1295Ter)
c.3881G>A (p.Trp1294Ter)
c.3590G>A (p.Trp1197Ter)
3g.38712376A=CA1358633428SCN10Ac.3874T= (p.Trp1292=)
c.3871T= (p.Trp1291=)
c.3898T= (p.Trp1300=)
c.3580T= (p.Trp1194=)
c.3883T= (p.Trp1295=)
c.3880T= (p.Trp1294=)
c.3589T= (p.Trp1197=)
3g.38712376A>CCA352151273SCN10Ac.3874T>G (p.Trp1292Gly)
c.3871T>G (p.Trp1291Gly)
c.3898T>G (p.Trp1300Gly)
c.3580T>G (p.Trp1194Gly)
c.3883T>G (p.Trp1295Gly)
c.3880T>G (p.Trp1294Gly)
c.3589T>G (p.Trp1197Gly)
3g.38712376A>GCA352151274SCN10Ac.3874T>C (p.Trp1292Arg)
c.3871T>C (p.Trp1291Arg)
c.3898T>C (p.Trp1300Arg)
c.3580T>C (p.Trp1194Arg)
c.3883T>C (p.Trp1295Arg)
c.3880T>C (p.Trp1294Arg)
c.3589T>C (p.Trp1197Arg)
 dbSNP
3g.38712376A>TCA352151275SCN10Ac.3874T>A (p.Trp1292Arg)
c.3871T>A (p.Trp1291Arg)
c.3898T>A (p.Trp1300Arg)
c.3580T>A (p.Trp1194Arg)
c.3883T>A (p.Trp1295Arg)
c.3880T>A (p.Trp1294Arg)
c.3589T>A (p.Trp1197Arg)
3g.38712379_38712381delCA2665099804SCN10Ac.3872_3874del (p.Phe1291del)
c.3869_3871del (p.Phe1290del)
c.3896_3898del (p.Phe1299del)
c.3578_3580del (p.Phe1193del)
c.3881_3883del (p.Phe1294del)
c.3878_3880del (p.Phe1293del)
c.3587_3589del (p.Phe1196del)
 gnomAD v4
3g.38712377G>ACA72950527SCN10Ac.3873C>T (p.Phe1291=)
c.3870C>T (p.Phe1290=)
c.3897C>T (p.Phe1299=)
c.3579C>T (p.Phe1193=)
c.3882C>T (p.Phe1294=)
c.3879C>T (p.Phe1293=)
c.3588C>T (p.Phe1196=)
 dbSNP gnomAD v3 gnomAD v4
3g.38712377G>CCA352151276SCN10Ac.3873C>G (p.Phe1291Leu)
c.3870C>G (p.Phe1290Leu)
c.3897C>G (p.Phe1299Leu)
c.3579C>G (p.Phe1193Leu)
c.3882C>G (p.Phe1294Leu)
c.3879C>G (p.Phe1293Leu)
c.3588C>G (p.Phe1196Leu)
 dbSNP
3g.38712377G=CA1358633430SCN10Ac.3873C= (p.Phe1291=)
c.3870C= (p.Phe1290=)
c.3897C= (p.Phe1299=)
c.3579C= (p.Phe1193=)
c.3882C= (p.Phe1294=)
c.3879C= (p.Phe1293=)
c.3588C= (p.Phe1196=)
3g.38712377G>TCA352151277SCN10Ac.3873C>A (p.Phe1291Leu)
c.3870C>A (p.Phe1290Leu)
c.3897C>A (p.Phe1299Leu)
c.3579C>A (p.Phe1193Leu)
c.3882C>A (p.Phe1294Leu)
c.3879C>A (p.Phe1293Leu)
c.3588C>A (p.Phe1196Leu)
3g.38712378A>CCA352151278SCN10Ac.3872T>G (p.Phe1291Cys)
c.3869T>G (p.Phe1290Cys)
c.3896T>G (p.Phe1299Cys)
c.3578T>G (p.Phe1193Cys)
c.3881T>G (p.Phe1294Cys)
c.3878T>G (p.Phe1293Cys)
c.3587T>G (p.Phe1196Cys)
3g.38712378A>GCA352151279SCN10Ac.3872T>C (p.Phe1291Ser)
c.3869T>C (p.Phe1290Ser)
c.3896T>C (p.Phe1299Ser)
c.3578T>C (p.Phe1193Ser)
c.3881T>C (p.Phe1294Ser)
c.3878T>C (p.Phe1293Ser)
c.3587T>C (p.Phe1196Ser)
3g.38712378A>TCA352151280SCN10Ac.3872T>A (p.Phe1291Tyr)
c.3869T>A (p.Phe1290Tyr)
c.3896T>A (p.Phe1299Tyr)
c.3578T>A (p.Phe1193Tyr)
c.3881T>A (p.Phe1294Tyr)
c.3878T>A (p.Phe1293Tyr)
c.3587T>A (p.Phe1196Tyr)
3g.38712379A>CCA352151281SCN10Ac.3871T>G (p.Phe1291Val)
c.3868T>G (p.Phe1290Val)
c.3895T>G (p.Phe1299Val)
c.3577T>G (p.Phe1193Val)
c.3880T>G (p.Phe1294Val)
c.3877T>G (p.Phe1293Val)
c.3586T>G (p.Phe1196Val)
3g.38712379A>GCA352151282SCN10Ac.3871T>C (p.Phe1291Leu)
c.3868T>C (p.Phe1290Leu)
c.3895T>C (p.Phe1299Leu)
c.3577T>C (p.Phe1193Leu)
c.3880T>C (p.Phe1294Leu)
c.3877T>C (p.Phe1293Leu)
c.3586T>C (p.Phe1196Leu)
3g.38712379A>TCA352151283SCN10Ac.3871T>A (p.Phe1291Ile)
c.3868T>A (p.Phe1290Ile)
c.3895T>A (p.Phe1299Ile)
c.3577T>A (p.Phe1193Ile)
c.3880T>A (p.Phe1294Ile)
c.3877T>A (p.Phe1293Ile)
c.3586T>A (p.Phe1196Ile)
3g.38712380G>ACA433334033SCN10Ac.3870C>T (p.Ile1290=)
c.3867C>T (p.Ile1289=)
c.3894C>T (p.Ile1298=)
c.3576C>T (p.Ile1192=)
c.3879C>T (p.Ile1293=)
c.3876C>T (p.Ile1292=)
c.3585C>T (p.Ile1195=)
 COSMIC
3g.38712380G>CCA352151284SCN10Ac.3870C>G (p.Ile1290Met)
c.3867C>G (p.Ile1289Met)
c.3894C>G (p.Ile1298Met)
c.3576C>G (p.Ile1192Met)
c.3879C>G (p.Ile1293Met)
c.3876C>G (p.Ile1292Met)
c.3585C>G (p.Ile1195Met)
3g.38712380G=CA1358633433SCN10Ac.3870C= (p.Ile1290=)
c.3867C= (p.Ile1289=)
c.3894C= (p.Ile1298=)
c.3576C= (p.Ile1192=)
c.3879C= (p.Ile1293=)
c.3876C= (p.Ile1292=)
c.3585C= (p.Ile1195=)
3g.38712380G>TCA433334034SCN10Ac.3870C>A (p.Ile1290=)
c.3867C>A (p.Ile1289=)
c.3894C>A (p.Ile1298=)
c.3576C>A (p.Ile1192=)
c.3879C>A (p.Ile1293=)
c.3876C>A (p.Ile1292=)
c.3585C>A (p.Ile1195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712381A>CCA352151287SCN10Ac.3869T>G (p.Ile1290Ser)
c.3866T>G (p.Ile1289Ser)
c.3893T>G (p.Ile1298Ser)
c.3575T>G (p.Ile1192Ser)
c.3878T>G (p.Ile1293Ser)
c.3875T>G (p.Ile1292Ser)
c.3584T>G (p.Ile1195Ser)
3g.38712381A>GCA352151285SCN10Ac.3869T>C (p.Ile1290Thr)
c.3866T>C (p.Ile1289Thr)
c.3893T>C (p.Ile1298Thr)
c.3575T>C (p.Ile1192Thr)
c.3878T>C (p.Ile1293Thr)
c.3875T>C (p.Ile1292Thr)
c.3584T>C (p.Ile1195Thr)
3g.38712381A>TCA352151286SCN10Ac.3869T>A (p.Ile1290Asn)
c.3866T>A (p.Ile1289Asn)
c.3893T>A (p.Ile1298Asn)
c.3575T>A (p.Ile1192Asn)
c.3878T>A (p.Ile1293Asn)
c.3875T>A (p.Ile1292Asn)
c.3584T>A (p.Ile1195Asn)
3g.38712382T>ACA352151288SCN10Ac.3868A>T (p.Ile1290Phe)
c.3865A>T (p.Ile1289Phe)
c.3892A>T (p.Ile1298Phe)
c.3574A>T (p.Ile1192Phe)
c.3877A>T (p.Ile1293Phe)
c.3874A>T (p.Ile1292Phe)
c.3583A>T (p.Ile1195Phe)
3g.38712382T>CCA352151289SCN10Ac.3868A>G (p.Ile1290Val)
c.3865A>G (p.Ile1289Val)
c.3892A>G (p.Ile1298Val)
c.3574A>G (p.Ile1192Val)
c.3877A>G (p.Ile1293Val)
c.3874A>G (p.Ile1292Val)
c.3583A>G (p.Ile1195Val)
 dbSNP gnomAD v4
3g.38712382T>GCA352151290SCN10Ac.3868A>C (p.Ile1290Leu)
c.3865A>C (p.Ile1289Leu)
c.3892A>C (p.Ile1298Leu)
c.3574A>C (p.Ile1192Leu)
c.3877A>C (p.Ile1293Leu)
c.3874A>C (p.Ile1292Leu)
c.3583A>C (p.Ile1195Leu)
 gnomAD v4
3g.38712383G>ACA433334037SCN10Ac.3867C>T (p.Leu1289=)
c.3864C>T (p.Leu1288=)
c.3891C>T (p.Leu1297=)
c.3573C>T (p.Leu1191=)
c.3876C>T (p.Leu1292=)
c.3873C>T (p.Leu1291=)
c.3582C>T (p.Leu1194=)
 gnomAD v4
3g.38712383G>CCA433334040SCN10Ac.3867C>G (p.Leu1289=)
c.3864C>G (p.Leu1288=)
c.3891C>G (p.Leu1297=)
c.3573C>G (p.Leu1191=)
c.3876C>G (p.Leu1292=)
c.3873C>G (p.Leu1291=)
c.3582C>G (p.Leu1194=)
3g.38712383G>TCA433334041SCN10Ac.3867C>A (p.Leu1289=)
c.3864C>A (p.Leu1288=)
c.3891C>A (p.Leu1297=)
c.3573C>A (p.Leu1191=)
c.3876C>A (p.Leu1292=)
c.3873C>A (p.Leu1291=)
c.3582C>A (p.Leu1194=)
 gnomAD v4
3g.38712384A>CCA352151291SCN10Ac.3866T>G (p.Leu1289Arg)
c.3863T>G (p.Leu1288Arg)
c.3890T>G (p.Leu1297Arg)
c.3572T>G (p.Leu1191Arg)
c.3875T>G (p.Leu1292Arg)
c.3872T>G (p.Leu1291Arg)
c.3581T>G (p.Leu1194Arg)
3g.38712384A>GCA352151292SCN10Ac.3866T>C (p.Leu1289Pro)
c.3863T>C (p.Leu1288Pro)
c.3890T>C (p.Leu1297Pro)
c.3572T>C (p.Leu1191Pro)
c.3875T>C (p.Leu1292Pro)
c.3872T>C (p.Leu1291Pro)
c.3581T>C (p.Leu1194Pro)
3g.38712384A>TCA352151293SCN10Ac.3866T>A (p.Leu1289His)
c.3863T>A (p.Leu1288His)
c.3890T>A (p.Leu1297His)
c.3572T>A (p.Leu1191His)
c.3875T>A (p.Leu1292His)
c.3872T>A (p.Leu1291His)
c.3581T>A (p.Leu1194His)
3g.38712385G>ACA352151294SCN10Ac.3865C>T (p.Leu1289Phe)
c.3862C>T (p.Leu1288Phe)
c.3889C>T (p.Leu1297Phe)
c.3571C>T (p.Leu1191Phe)
c.3874C>T (p.Leu1292Phe)
c.3871C>T (p.Leu1291Phe)
c.3580C>T (p.Leu1194Phe)
 gnomAD v4 COSMIC
3g.38712385G>CCA352151295SCN10Ac.3865C>G (p.Leu1289Val)
c.3862C>G (p.Leu1288Val)
c.3889C>G (p.Leu1297Val)
c.3571C>G (p.Leu1191Val)
c.3874C>G (p.Leu1292Val)
c.3871C>G (p.Leu1291Val)
c.3580C>G (p.Leu1194Val)
3g.38712385G>TCA352151296SCN10Ac.3865C>A (p.Leu1289Ile)
c.3862C>A (p.Leu1288Ile)
c.3889C>A (p.Leu1297Ile)
c.3571C>A (p.Leu1191Ile)
c.3874C>A (p.Leu1292Ile)
c.3871C>A (p.Leu1291Ile)
c.3580C>A (p.Leu1194Ile)
3g.38712386G>ACA433334042SCN10Ac.3864C>T (p.Cys1288=)
c.3861C>T (p.Cys1287=)
c.3888C>T (p.Cys1296=)
c.3570C>T (p.Cys1190=)
c.3873C>T (p.Cys1291=)
c.3870C>T (p.Cys1290=)
c.3579C>T (p.Cys1193=)
3g.38712386G>CCA2320076SCN10Ac.3864C>G (p.Cys1288Trp)
c.3861C>G (p.Cys1287Trp)
c.3888C>G (p.Cys1296Trp)
c.3570C>G (p.Cys1190Trp)
c.3873C>G (p.Cys1291Trp)
c.3870C>G (p.Cys1290Trp)
c.3579C>G (p.Cys1193Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712386G=CA1358633437SCN10Ac.3864C= (p.Cys1288=)
c.3861C= (p.Cys1287=)
c.3888C= (p.Cys1296=)
c.3570C= (p.Cys1190=)
c.3873C= (p.Cys1291=)
c.3870C= (p.Cys1290=)
c.3579C= (p.Cys1193=)
3g.38712386G>TCA352151297SCN10Ac.3864C>A (p.Cys1288Ter)
c.3861C>A (p.Cys1287Ter)
c.3888C>A (p.Cys1296Ter)
c.3570C>A (p.Cys1190Ter)
c.3873C>A (p.Cys1291Ter)
c.3870C>A (p.Cys1290Ter)
c.3579C>A (p.Cys1193Ter)
3g.38712387C>ACA352151300SCN10Ac.3863G>T (p.Cys1288Phe)
c.3860G>T (p.Cys1287Phe)
c.3887G>T (p.Cys1296Phe)
c.3569G>T (p.Cys1190Phe)
c.3872G>T (p.Cys1291Phe)
c.3869G>T (p.Cys1290Phe)
c.3578G>T (p.Cys1193Phe)
3g.38712387C=CA1358633439SCN10Ac.3863G= (p.Cys1288=)
c.3860G= (p.Cys1287=)
c.3887G= (p.Cys1296=)
c.3569G= (p.Cys1190=)
c.3872G= (p.Cys1291=)
c.3869G= (p.Cys1290=)
c.3578G= (p.Cys1193=)
3g.38712387C>GCA352151299SCN10Ac.3863G>C (p.Cys1288Ser)
c.3860G>C (p.Cys1287Ser)
c.3887G>C (p.Cys1296Ser)
c.3569G>C (p.Cys1190Ser)
c.3872G>C (p.Cys1291Ser)
c.3869G>C (p.Cys1290Ser)
c.3578G>C (p.Cys1193Ser)
3g.38712387C>TCA352151298SCN10Ac.3863G>A (p.Cys1288Tyr)
c.3860G>A (p.Cys1287Tyr)
c.3887G>A (p.Cys1296Tyr)
c.3569G>A (p.Cys1190Tyr)
c.3872G>A (p.Cys1291Tyr)
c.3869G>A (p.Cys1290Tyr)
c.3578G>A (p.Cys1193Tyr)
 dbSNP gnomAD v4
3g.38712388A=CA1358633441SCN10Ac.3862T= (p.Cys1288=)
c.3859T= (p.Cys1287=)
c.3886T= (p.Cys1296=)
c.3568T= (p.Cys1190=)
c.3871T= (p.Cys1291=)
c.3868T= (p.Cys1290=)
c.3577T= (p.Cys1193=)
3g.38712388A>CCA352151301SCN10Ac.3862T>G (p.Cys1288Gly)
c.3859T>G (p.Cys1287Gly)
c.3886T>G (p.Cys1296Gly)
c.3568T>G (p.Cys1190Gly)
c.3871T>G (p.Cys1291Gly)
c.3868T>G (p.Cys1290Gly)
c.3577T>G (p.Cys1193Gly)
3g.38712388A>GCA352151302SCN10Ac.3862T>C (p.Cys1288Arg)
c.3859T>C (p.Cys1287Arg)
c.3886T>C (p.Cys1296Arg)
c.3568T>C (p.Cys1190Arg)
c.3871T>C (p.Cys1291Arg)
c.3868T>C (p.Cys1290Arg)
c.3577T>C (p.Cys1193Arg)
3g.38712388A>TCA352151303SCN10Ac.3862T>A (p.Cys1288Ser)
c.3859T>A (p.Cys1287Ser)
c.3886T>A (p.Cys1296Ser)
c.3568T>A (p.Cys1190Ser)
c.3871T>A (p.Cys1291Ser)
c.3868T>A (p.Cys1290Ser)
c.3577T>A (p.Cys1193Ser)
3g.38712389G>ACA433334049SCN10Ac.3861C>T (p.Val1287=)
c.3858C>T (p.Val1286=)
c.3885C>T (p.Val1295=)
c.3567C>T (p.Val1189=)
c.3870C>T (p.Val1290=)
c.3867C>T (p.Val1289=)
c.3576C>T (p.Val1192=)
3g.38712389G>CCA433334047SCN10Ac.3861C>G (p.Val1287=)
c.3858C>G (p.Val1286=)
c.3885C>G (p.Val1295=)
c.3567C>G (p.Val1189=)
c.3870C>G (p.Val1290=)
c.3867C>G (p.Val1289=)
c.3576C>G (p.Val1192=)
3g.38712389G>TCA433334048SCN10Ac.3861C>A (p.Val1287=)
c.3858C>A (p.Val1286=)
c.3885C>A (p.Val1295=)
c.3567C>A (p.Val1189=)
c.3870C>A (p.Val1290=)
c.3867C>A (p.Val1289=)
c.3576C>A (p.Val1192=)
3g.38712392_38712400dupCA2320077SCN10Ac.3853_3861dup (p.Val1287_Cys1288insLeuLeuVal)
c.3850_3858dup (p.Val1286_Cys1287insLeuLeuVal)
c.3877_3885dup (p.Val1295_Cys1296insLeuLeuVal)
c.3559_3567dup (p.Val1189_Cys1190insLeuLeuVal)
c.3862_3870dup (p.Val1290_Cys1291insLeuLeuVal)
c.3859_3867dup (p.Val1289_Cys1290insLeuLeuVal)
c.3568_3576dup (p.Val1192_Cys1193insLeuLeuVal)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712390A>CCA352151304SCN10Ac.3860T>G (p.Val1287Gly)
c.3857T>G (p.Val1286Gly)
c.3884T>G (p.Val1295Gly)
c.3566T>G (p.Val1189Gly)
c.3869T>G (p.Val1290Gly)
c.3866T>G (p.Val1289Gly)
c.3575T>G (p.Val1192Gly)
3g.38712390A>GCA352151305SCN10Ac.3860T>C (p.Val1287Ala)
c.3857T>C (p.Val1286Ala)
c.3884T>C (p.Val1295Ala)
c.3566T>C (p.Val1189Ala)
c.3869T>C (p.Val1290Ala)
c.3866T>C (p.Val1289Ala)
c.3575T>C (p.Val1192Ala)
3g.38712390A>TCA352151306SCN10Ac.3860T>A (p.Val1287Asp)
c.3857T>A (p.Val1286Asp)
c.3884T>A (p.Val1295Asp)
c.3566T>A (p.Val1189Asp)
c.3869T>A (p.Val1290Asp)
c.3866T>A (p.Val1289Asp)
c.3575T>A (p.Val1192Asp)
3g.38712391C>ACA2320079SCN10Ac.3859G>T (p.Val1287Phe)
c.3856G>T (p.Val1286Phe)
c.3883G>T (p.Val1295Phe)
c.3565G>T (p.Val1189Phe)
c.3868G>T (p.Val1290Phe)
c.3865G>T (p.Val1289Phe)
c.3574G>T (p.Val1192Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712391C=CA1358633448SCN10Ac.3859G= (p.Val1287=)
c.3856G= (p.Val1286=)
c.3883G= (p.Val1295=)
c.3565G= (p.Val1189=)
c.3868G= (p.Val1290=)
c.3865G= (p.Val1289=)
c.3574G= (p.Val1192=)
3g.38712391C>GCA352151307SCN10Ac.3859G>C (p.Val1287Leu)
c.3856G>C (p.Val1286Leu)
c.3883G>C (p.Val1295Leu)
c.3565G>C (p.Val1189Leu)
c.3868G>C (p.Val1290Leu)
c.3865G>C (p.Val1289Leu)
c.3574G>C (p.Val1192Leu)
3g.38712391C>TCA2320078SCN10Ac.3859G>A (p.Val1287Ile)
c.3856G>A (p.Val1286Ile)
c.3883G>A (p.Val1295Ile)
c.3565G>A (p.Val1189Ile)
c.3868G>A (p.Val1290Ile)
c.3865G>A (p.Val1289Ile)
c.3574G>A (p.Val1192Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712392G>ACA2320080SCN10Ac.3858C>T (p.Leu1286=)
c.3855C>T (p.Leu1285=)
c.3882C>T (p.Leu1294=)
c.3564C>T (p.Leu1188=)
c.3867C>T (p.Leu1289=)
c.3864C>T (p.Leu1288=)
c.3573C>T (p.Leu1191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712392G>CCA433334056SCN10Ac.3858C>G (p.Leu1286=)
c.3855C>G (p.Leu1285=)
c.3882C>G (p.Leu1294=)
c.3564C>G (p.Leu1188=)
c.3867C>G (p.Leu1289=)
c.3864C>G (p.Leu1288=)
c.3573C>G (p.Leu1191=)
3g.38712392G=CA1358633456SCN10Ac.3858C= (p.Leu1286=)
c.3855C= (p.Leu1285=)
c.3882C= (p.Leu1294=)
c.3564C= (p.Leu1188=)
c.3867C= (p.Leu1289=)
c.3864C= (p.Leu1288=)
c.3573C= (p.Leu1191=)
3g.38712392G>TCA433334058SCN10Ac.3858C>A (p.Leu1286=)
c.3855C>A (p.Leu1285=)
c.3882C>A (p.Leu1294=)
c.3564C>A (p.Leu1188=)
c.3867C>A (p.Leu1289=)
c.3864C>A (p.Leu1288=)
c.3573C>A (p.Leu1191=)
3g.38712397_38712399dupCA1046997218SCN10Ac.3856_3858dup (p.Leu1286_Val1287insLeu)
c.3853_3855dup (p.Leu1285_Val1286insLeu)
c.3880_3882dup (p.Leu1294_Val1295insLeu)
c.3562_3564dup (p.Leu1188_Val1189insLeu)
c.3865_3867dup (p.Leu1289_Val1290insLeu)
c.3862_3864dup (p.Leu1288_Val1289insLeu)
c.3571_3573dup (p.Leu1191_Val1192insLeu)
 dbSNP gnomAD v3 gnomAD v4
3g.38712397_38712399delCA2577553909SCN10Ac.3856_3858del (p.Leu1286del)
c.3853_3855del (p.Leu1285del)
c.3880_3882del (p.Leu1294del)
c.3562_3564del (p.Leu1188del)
c.3865_3867del (p.Leu1289del)
c.3862_3864del (p.Leu1288del)
c.3571_3573del (p.Leu1191del)
3g.38712393A>CCA352151308SCN10Ac.3857T>G (p.Leu1286Arg)
c.3854T>G (p.Leu1285Arg)
c.3881T>G (p.Leu1294Arg)
c.3563T>G (p.Leu1188Arg)
c.3866T>G (p.Leu1289Arg)
c.3863T>G (p.Leu1288Arg)
c.3572T>G (p.Leu1191Arg)
3g.38712393A>GCA352151309SCN10Ac.3857T>C (p.Leu1286Pro)
c.3854T>C (p.Leu1285Pro)
c.3881T>C (p.Leu1294Pro)
c.3563T>C (p.Leu1188Pro)
c.3866T>C (p.Leu1289Pro)
c.3863T>C (p.Leu1288Pro)
c.3572T>C (p.Leu1191Pro)
3g.38712393A>TCA352151310SCN10Ac.3857T>A (p.Leu1286His)
c.3854T>A (p.Leu1285His)
c.3881T>A (p.Leu1294His)
c.3563T>A (p.Leu1188His)
c.3866T>A (p.Leu1289His)
c.3863T>A (p.Leu1288His)
c.3572T>A (p.Leu1191His)
3g.38712394G>ACA352151312SCN10Ac.3856C>T (p.Leu1286Phe)
c.3853C>T (p.Leu1285Phe)
c.3880C>T (p.Leu1294Phe)
c.3562C>T (p.Leu1188Phe)
c.3865C>T (p.Leu1289Phe)
c.3862C>T (p.Leu1288Phe)
c.3571C>T (p.Leu1191Phe)
3g.38712394G>CCA2320081SCN10Ac.3856C>G (p.Leu1286Val)
c.3853C>G (p.Leu1285Val)
c.3880C>G (p.Leu1294Val)
c.3562C>G (p.Leu1188Val)
c.3865C>G (p.Leu1289Val)
c.3862C>G (p.Leu1288Val)
c.3571C>G (p.Leu1191Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712394G=CA1358633457SCN10Ac.3856C= (p.Leu1286=)
c.3853C= (p.Leu1285=)
c.3880C= (p.Leu1294=)
c.3562C= (p.Leu1188=)
c.3865C= (p.Leu1289=)
c.3862C= (p.Leu1288=)
c.3571C= (p.Leu1191=)
3g.38712394G>TCA352151311SCN10Ac.3856C>A (p.Leu1286Ile)
c.3853C>A (p.Leu1285Ile)
c.3880C>A (p.Leu1294Ile)
c.3562C>A (p.Leu1188Ile)
c.3865C>A (p.Leu1289Ile)
c.3862C>A (p.Leu1288Ile)
c.3571C>A (p.Leu1191Ile)
 gnomAD v4
3g.38712395G>ACA433334060SCN10Ac.3855C>T (p.Leu1285=)
c.3852C>T (p.Leu1284=)
c.3879C>T (p.Leu1293=)
c.3561C>T (p.Leu1187=)
c.3864C>T (p.Leu1288=)
c.3861C>T (p.Leu1287=)
c.3570C>T (p.Leu1190=)
 dbSNP gnomAD v4
3g.38712395G>CCA433334063SCN10Ac.3855C>G (p.Leu1285=)
c.3852C>G (p.Leu1284=)
c.3879C>G (p.Leu1293=)
c.3561C>G (p.Leu1187=)
c.3864C>G (p.Leu1288=)
c.3861C>G (p.Leu1287=)
c.3570C>G (p.Leu1190=)
 dbSNP gnomAD v4
3g.38712395G=CA1358633459SCN10Ac.3855C= (p.Leu1285=)
c.3852C= (p.Leu1284=)
c.3879C= (p.Leu1293=)
c.3561C= (p.Leu1187=)
c.3864C= (p.Leu1288=)
c.3861C= (p.Leu1287=)
c.3570C= (p.Leu1190=)
3g.38712395G>TCA433334061SCN10Ac.3855C>A (p.Leu1285=)
c.3852C>A (p.Leu1284=)
c.3879C>A (p.Leu1293=)
c.3561C>A (p.Leu1187=)
c.3864C>A (p.Leu1288=)
c.3861C>A (p.Leu1287=)
c.3570C>A (p.Leu1190=)
3g.38712396A>CCA352151313SCN10Ac.3854T>G (p.Leu1285Arg)
c.3851T>G (p.Leu1284Arg)
c.3878T>G (p.Leu1293Arg)
c.3560T>G (p.Leu1187Arg)
c.3863T>G (p.Leu1288Arg)
c.3860T>G (p.Leu1287Arg)
c.3569T>G (p.Leu1190Arg)
3g.38712396A>GCA352151314SCN10Ac.3854T>C (p.Leu1285Pro)
c.3851T>C (p.Leu1284Pro)
c.3878T>C (p.Leu1293Pro)
c.3560T>C (p.Leu1187Pro)
c.3863T>C (p.Leu1288Pro)
c.3860T>C (p.Leu1287Pro)
c.3569T>C (p.Leu1190Pro)
3g.38712396A>TCA352151315SCN10Ac.3854T>A (p.Leu1285His)
c.3851T>A (p.Leu1284His)
c.3878T>A (p.Leu1293His)
c.3560T>A (p.Leu1187His)
c.3863T>A (p.Leu1288His)
c.3860T>A (p.Leu1287His)
c.3569T>A (p.Leu1190His)
3g.38712397G>ACA352151316SCN10Ac.3853C>T (p.Leu1285Phe)
c.3850C>T (p.Leu1284Phe)
c.3877C>T (p.Leu1293Phe)
c.3559C>T (p.Leu1187Phe)
c.3862C>T (p.Leu1288Phe)
c.3859C>T (p.Leu1287Phe)
c.3568C>T (p.Leu1190Phe)
 gnomAD v4
3g.38712397G>CCA352151317SCN10Ac.3853C>G (p.Leu1285Val)
c.3850C>G (p.Leu1284Val)
c.3877C>G (p.Leu1293Val)
c.3559C>G (p.Leu1187Val)
c.3862C>G (p.Leu1288Val)
c.3859C>G (p.Leu1287Val)
c.3568C>G (p.Leu1190Val)
3g.38712397G>TCA352151318SCN10Ac.3853C>A (p.Leu1285Ile)
c.3850C>A (p.Leu1284Ile)
c.3877C>A (p.Leu1293Ile)
c.3559C>A (p.Leu1187Ile)
c.3862C>A (p.Leu1288Ile)
c.3859C>A (p.Leu1287Ile)
c.3568C>A (p.Leu1190Ile)
3g.38712398G>ACA2320082SCN10Ac.3852C>T (p.Val1284=)
c.3849C>T (p.Val1283=)
c.3876C>T (p.Val1292=)
c.3558C>T (p.Val1186=)
c.3861C>T (p.Val1287=)
c.3858C>T (p.Val1286=)
c.3567C>T (p.Val1189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712398G>CCA433334064SCN10Ac.3852C>G (p.Val1284=)
c.3849C>G (p.Val1283=)
c.3876C>G (p.Val1292=)
c.3558C>G (p.Val1186=)
c.3861C>G (p.Val1287=)
c.3858C>G (p.Val1286=)
c.3567C>G (p.Val1189=)
3g.38712398G=CA1358633462SCN10Ac.3852C= (p.Val1284=)
c.3849C= (p.Val1283=)
c.3876C= (p.Val1292=)
c.3558C= (p.Val1186=)
c.3861C= (p.Val1287=)
c.3858C= (p.Val1286=)
c.3567C= (p.Val1189=)
3g.38712398G>TCA433334065SCN10Ac.3852C>A (p.Val1284=)
c.3849C>A (p.Val1283=)
c.3876C>A (p.Val1292=)
c.3558C>A (p.Val1186=)
c.3861C>A (p.Val1287=)
c.3858C>A (p.Val1286=)
c.3567C>A (p.Val1189=)
3g.38712399A=CA1358633465SCN10Ac.3851T= (p.Val1284=)
c.3848T= (p.Val1283=)
c.3875T= (p.Val1292=)
c.3557T= (p.Val1186=)
c.3860T= (p.Val1287=)
c.3857T= (p.Val1286=)
c.3566T= (p.Val1189=)
3g.38712399A>CCA352151319SCN10Ac.3851T>G (p.Val1284Gly)
c.3848T>G (p.Val1283Gly)
c.3875T>G (p.Val1292Gly)
c.3557T>G (p.Val1186Gly)
c.3860T>G (p.Val1287Gly)
c.3857T>G (p.Val1286Gly)
c.3566T>G (p.Val1189Gly)
3g.38712399A>GCA352151320SCN10Ac.3851T>C (p.Val1284Ala)
c.3848T>C (p.Val1283Ala)
c.3875T>C (p.Val1292Ala)
c.3557T>C (p.Val1186Ala)
c.3860T>C (p.Val1287Ala)
c.3857T>C (p.Val1286Ala)
c.3566T>C (p.Val1189Ala)
3g.38712399A>TCA352151321SCN10Ac.3851T>A (p.Val1284Asp)
c.3848T>A (p.Val1283Asp)
c.3875T>A (p.Val1292Asp)
c.3557T>A (p.Val1186Asp)
c.3860T>A (p.Val1287Asp)
c.3857T>A (p.Val1286Asp)
c.3566T>A (p.Val1189Asp)
 dbSNP
3g.38712400C>ACA352151322SCN10Ac.3850G>T (p.Val1284Phe)
c.3847G>T (p.Val1283Phe)
c.3874G>T (p.Val1292Phe)
c.3556G>T (p.Val1186Phe)
c.3859G>T (p.Val1287Phe)
c.3856G>T (p.Val1286Phe)
c.3565G>T (p.Val1189Phe)
 dbSNP gnomAD v4
3g.38712400C>GCA352151323SCN10Ac.3850G>C (p.Val1284Leu)
c.3847G>C (p.Val1283Leu)
c.3874G>C (p.Val1292Leu)
c.3556G>C (p.Val1186Leu)
c.3859G>C (p.Val1287Leu)
c.3856G>C (p.Val1286Leu)
c.3565G>C (p.Val1189Leu)
3g.38712400C>TCA352151324SCN10Ac.3850G>A (p.Val1284Ile)
c.3847G>A (p.Val1283Ile)
c.3874G>A (p.Val1292Ile)
c.3556G>A (p.Val1186Ile)
c.3859G>A (p.Val1287Ile)
c.3856G>A (p.Val1286Ile)
c.3565G>A (p.Val1189Ile)
3g.38712401A=CA1358633467SCN10Ac.3849T= (p.Asn1283=)
c.3846T= (p.Asn1282=)
c.3873T= (p.Asn1291=)
c.3555T= (p.Asn1185=)
c.3858T= (p.Asn1286=)
c.3855T= (p.Asn1285=)
c.3564T= (p.Asn1188=)
3g.38712401A>CCA352151325SCN10Ac.3849T>G (p.Asn1283Lys)
c.3846T>G (p.Asn1282Lys)
c.3873T>G (p.Asn1291Lys)
c.3555T>G (p.Asn1185Lys)
c.3858T>G (p.Asn1286Lys)
c.3855T>G (p.Asn1285Lys)
c.3564T>G (p.Asn1188Lys)
3g.38712401A>GCA433334067SCN10Ac.3849T>C (p.Asn1283=)
c.3846T>C (p.Asn1282=)
c.3873T>C (p.Asn1291=)
c.3555T>C (p.Asn1185=)
c.3858T>C (p.Asn1286=)
c.3855T>C (p.Asn1285=)
c.3564T>C (p.Asn1188=)
3g.38712401A>TCA72950548SCN10Ac.3849T>A (p.Asn1283Lys)
c.3846T>A (p.Asn1282Lys)
c.3873T>A (p.Asn1291Lys)
c.3555T>A (p.Asn1185Lys)
c.3858T>A (p.Asn1286Lys)
c.3855T>A (p.Asn1285Lys)
c.3564T>A (p.Asn1188Lys)
 dbSNP
3g.38712402T>ACA352151326SCN10Ac.3848A>T (p.Asn1283Ile)
c.3845A>T (p.Asn1282Ile)
c.3872A>T (p.Asn1291Ile)
c.3554A>T (p.Asn1185Ile)
c.3857A>T (p.Asn1286Ile)
c.3854A>T (p.Asn1285Ile)
c.3563A>T (p.Asn1188Ile)
3g.38712402T>CCA352151327SCN10Ac.3848A>G (p.Asn1283Ser)
c.3845A>G (p.Asn1282Ser)
c.3872A>G (p.Asn1291Ser)
c.3554A>G (p.Asn1185Ser)
c.3857A>G (p.Asn1286Ser)
c.3854A>G (p.Asn1285Ser)
c.3563A>G (p.Asn1188Ser)
3g.38712402T>GCA352151328SCN10Ac.3848A>C (p.Asn1283Thr)
c.3845A>C (p.Asn1282Thr)
c.3872A>C (p.Asn1291Thr)
c.3554A>C (p.Asn1185Thr)
c.3857A>C (p.Asn1286Thr)
c.3854A>C (p.Asn1285Thr)
c.3563A>C (p.Asn1188Thr)
3g.38712403T>ACA352151329SCN10Ac.3847A>T (p.Asn1283Tyr)
c.3844A>T (p.Asn1282Tyr)
c.3871A>T (p.Asn1291Tyr)
c.3553A>T (p.Asn1185Tyr)
c.3856A>T (p.Asn1286Tyr)
c.3853A>T (p.Asn1285Tyr)
c.3562A>T (p.Asn1188Tyr)
3g.38712403T>CCA352151330SCN10Ac.3847A>G (p.Asn1283Asp)
c.3844A>G (p.Asn1282Asp)
c.3871A>G (p.Asn1291Asp)
c.3553A>G (p.Asn1185Asp)
c.3856A>G (p.Asn1286Asp)
c.3853A>G (p.Asn1285Asp)
c.3562A>G (p.Asn1188Asp)
3g.38712403T>GCA352151331SCN10Ac.3847A>C (p.Asn1283His)
c.3844A>C (p.Asn1282His)
c.3871A>C (p.Asn1291His)
c.3553A>C (p.Asn1185His)
c.3856A>C (p.Asn1286His)
c.3853A>C (p.Asn1285His)
c.3562A>C (p.Asn1188His)
3g.38712404C>ACA352151332SCN10Ac.3846G>T (p.Met1282Ile)
c.3843G>T (p.Met1281Ile)
c.3870G>T (p.Met1290Ile)
c.3552G>T (p.Met1184Ile)
c.3855G>T (p.Met1285Ile)
c.3852G>T (p.Met1284Ile)
c.3561G>T (p.Met1187Ile)
3g.38712404C>GCA352151333SCN10Ac.3846G>C (p.Met1282Ile)
c.3843G>C (p.Met1281Ile)
c.3870G>C (p.Met1290Ile)
c.3552G>C (p.Met1184Ile)
c.3855G>C (p.Met1285Ile)
c.3852G>C (p.Met1284Ile)
c.3561G>C (p.Met1187Ile)
3g.38712404C>TCA352151334SCN10Ac.3846G>A (p.Met1282Ile)
c.3843G>A (p.Met1281Ile)
c.3870G>A (p.Met1290Ile)
c.3552G>A (p.Met1184Ile)
c.3855G>A (p.Met1285Ile)
c.3852G>A (p.Met1284Ile)
c.3561G>A (p.Met1187Ile)
 gnomAD v4
3g.38712405A=CA1358633469SCN10Ac.3845T= (p.Met1282=)
c.3842T= (p.Met1281=)
c.3869T= (p.Met1290=)
c.3551T= (p.Met1184=)
c.3854T= (p.Met1285=)
c.3851T= (p.Met1284=)
c.3560T= (p.Met1187=)
3g.38712405A>CCA352151335SCN10Ac.3845T>G (p.Met1282Arg)
c.3842T>G (p.Met1281Arg)
c.3869T>G (p.Met1290Arg)
c.3551T>G (p.Met1184Arg)
c.3854T>G (p.Met1285Arg)
c.3851T>G (p.Met1284Arg)
c.3560T>G (p.Met1187Arg)
3g.38712405A>GCA72950553SCN10Ac.3845T>C (p.Met1282Thr)
c.3842T>C (p.Met1281Thr)
c.3869T>C (p.Met1290Thr)
c.3551T>C (p.Met1184Thr)
c.3854T>C (p.Met1285Thr)
c.3851T>C (p.Met1284Thr)
c.3560T>C (p.Met1187Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.38712405A>TCA352151336SCN10Ac.3845T>A (p.Met1282Lys)
c.3842T>A (p.Met1281Lys)
c.3869T>A (p.Met1290Lys)
c.3551T>A (p.Met1184Lys)
c.3854T>A (p.Met1285Lys)
c.3851T>A (p.Met1284Lys)
c.3560T>A (p.Met1187Lys)
3g.38712406T>ACA352151338SCN10Ac.3844A>T (p.Met1282Leu)
c.3841A>T (p.Met1281Leu)
c.3868A>T (p.Met1290Leu)
c.3550A>T (p.Met1184Leu)
c.3853A>T (p.Met1285Leu)
c.3850A>T (p.Met1284Leu)
c.3559A>T (p.Met1187Leu)
 ClinVar dbSNP
3g.38712406T>CCA72950560SCN10Ac.3844A>G (p.Met1282Val)
c.3841A>G (p.Met1281Val)
c.3868A>G (p.Met1290Val)
c.3550A>G (p.Met1184Val)
c.3853A>G (p.Met1285Val)
c.3850A>G (p.Met1284Val)
c.3559A>G (p.Met1187Val)
 ClinVar dbSNP gnomAD v4
3g.38712406T>GCA352151337SCN10Ac.3844A>C (p.Met1282Leu)
c.3841A>C (p.Met1281Leu)
c.3868A>C (p.Met1290Leu)
c.3550A>C (p.Met1184Leu)
c.3853A>C (p.Met1285Leu)
c.3850A>C (p.Met1284Leu)
c.3559A>C (p.Met1187Leu)
3g.38712406T=CA1358633471SCN10Ac.3844A= (p.Met1282=)
c.3841A= (p.Met1281=)
c.3868A= (p.Met1290=)
c.3550A= (p.Met1184=)
c.3853A= (p.Met1285=)
c.3850A= (p.Met1284=)
c.3559A= (p.Met1187=)
3g.38712407G>ACA433334073SCN10Ac.3843C>T (p.Ile1281=)
c.3840C>T (p.Ile1280=)
c.3867C>T (p.Ile1289=)
c.3549C>T (p.Ile1183=)
c.3852C>T (p.Ile1284=)
c.3849C>T (p.Ile1283=)
c.3558C>T (p.Ile1186=)
 COSMIC
3g.38712407G>CCA352151339SCN10Ac.3843C>G (p.Ile1281Met)
c.3840C>G (p.Ile1280Met)
c.3867C>G (p.Ile1289Met)
c.3549C>G (p.Ile1183Met)
c.3852C>G (p.Ile1284Met)
c.3849C>G (p.Ile1283Met)
c.3558C>G (p.Ile1186Met)
3g.38712407G=CA1358633473SCN10Ac.3843C= (p.Ile1281=)
c.3840C= (p.Ile1280=)
c.3867C= (p.Ile1289=)
c.3549C= (p.Ile1183=)
c.3852C= (p.Ile1284=)
c.3849C= (p.Ile1283=)
c.3558C= (p.Ile1186=)
3g.38712407G>TCA72950562SCN10Ac.3843C>A (p.Ile1281=)
c.3840C>A (p.Ile1280=)
c.3867C>A (p.Ile1289=)
c.3549C>A (p.Ile1183=)
c.3852C>A (p.Ile1284=)
c.3849C>A (p.Ile1283=)
c.3558C>A (p.Ile1186=)
 dbSNP
3g.38712408A>CCA352151341SCN10Ac.3842T>G (p.Ile1281Ser)
c.3839T>G (p.Ile1280Ser)
c.3866T>G (p.Ile1289Ser)
c.3548T>G (p.Ile1183Ser)
c.3851T>G (p.Ile1284Ser)
c.3848T>G (p.Ile1283Ser)
c.3557T>G (p.Ile1186Ser)
3g.38712408A>GCA352151340SCN10Ac.3842T>C (p.Ile1281Thr)
c.3839T>C (p.Ile1280Thr)
c.3866T>C (p.Ile1289Thr)
c.3548T>C (p.Ile1183Thr)
c.3851T>C (p.Ile1284Thr)
c.3848T>C (p.Ile1283Thr)
c.3557T>C (p.Ile1186Thr)
3g.38712408A>TCA352151342SCN10Ac.3842T>A (p.Ile1281Asn)
c.3839T>A (p.Ile1280Asn)
c.3866T>A (p.Ile1289Asn)
c.3548T>A (p.Ile1183Asn)
c.3851T>A (p.Ile1284Asn)
c.3848T>A (p.Ile1283Asn)
c.3557T>A (p.Ile1186Asn)
3g.38712409T>ACA352151343SCN10Ac.3841A>T (p.Ile1281Phe)
c.3838A>T (p.Ile1280Phe)
c.3865A>T (p.Ile1289Phe)
c.3547A>T (p.Ile1183Phe)
c.3850A>T (p.Ile1284Phe)
c.3847A>T (p.Ile1283Phe)
c.3556A>T (p.Ile1186Phe)
 gnomAD v4
3g.38712409T>CCA352151344SCN10Ac.3841A>G (p.Ile1281Val)
c.3838A>G (p.Ile1280Val)
c.3865A>G (p.Ile1289Val)
c.3547A>G (p.Ile1183Val)
c.3850A>G (p.Ile1284Val)
c.3847A>G (p.Ile1283Val)
c.3556A>G (p.Ile1186Val)
3g.38712409T>GCA352151345SCN10Ac.3841A>C (p.Ile1281Leu)
c.3838A>C (p.Ile1280Leu)
c.3865A>C (p.Ile1289Leu)
c.3547A>C (p.Ile1183Leu)
c.3850A>C (p.Ile1284Leu)
c.3847A>C (p.Ile1283Leu)
c.3556A>C (p.Ile1186Leu)
3g.38712410G>ACA433334080SCN10Ac.3840C>T (p.Ser1280=)
c.3837C>T (p.Ser1279=)
c.3864C>T (p.Ser1288=)
c.3546C>T (p.Ser1182=)
c.3849C>T (p.Ser1283=)
c.3846C>T (p.Ser1282=)
c.3555C>T (p.Ser1185=)
3g.38712410G>CCA433334081SCN10Ac.3840C>G (p.Ser1280=)
c.3837C>G (p.Ser1279=)
c.3864C>G (p.Ser1288=)
c.3546C>G (p.Ser1182=)
c.3849C>G (p.Ser1283=)
c.3846C>G (p.Ser1282=)
c.3555C>G (p.Ser1185=)
 dbSNP gnomAD v2 gnomAD v4
3g.38712410G=CA1358633476SCN10Ac.3840C= (p.Ser1280=)
c.3837C= (p.Ser1279=)
c.3864C= (p.Ser1288=)
c.3546C= (p.Ser1182=)
c.3849C= (p.Ser1283=)
c.3846C= (p.Ser1282=)
c.3555C= (p.Ser1185=)
3g.38712410G>TCA433334082SCN10Ac.3840C>A (p.Ser1280=)
c.3837C>A (p.Ser1279=)
c.3864C>A (p.Ser1288=)
c.3546C>A (p.Ser1182=)
c.3849C>A (p.Ser1283=)
c.3846C>A (p.Ser1282=)
c.3555C>A (p.Ser1185=)
3g.38712411G>ACA352151346SCN10Ac.3839C>T (p.Ser1280Phe)
c.3836C>T (p.Ser1279Phe)
c.3863C>T (p.Ser1288Phe)
c.3545C>T (p.Ser1182Phe)
c.3848C>T (p.Ser1283Phe)
c.3845C>T (p.Ser1282Phe)
c.3554C>T (p.Ser1185Phe)
 dbSNP
3g.38712411G>CCA352151347SCN10Ac.3839C>G (p.Ser1280Cys)
c.3836C>G (p.Ser1279Cys)
c.3863C>G (p.Ser1288Cys)
c.3545C>G (p.Ser1182Cys)
c.3848C>G (p.Ser1283Cys)
c.3845C>G (p.Ser1282Cys)
c.3554C>G (p.Ser1185Cys)
3g.38712411G=CA1358633477SCN10Ac.3839C= (p.Ser1280=)
c.3836C= (p.Ser1279=)
c.3863C= (p.Ser1288=)
c.3545C= (p.Ser1182=)
c.3848C= (p.Ser1283=)
c.3845C= (p.Ser1282=)
c.3554C= (p.Ser1185=)
3g.38712411G>TCA352151348SCN10Ac.3839C>A (p.Ser1280Tyr)
c.3836C>A (p.Ser1279Tyr)
c.3863C>A (p.Ser1288Tyr)
c.3545C>A (p.Ser1182Tyr)
c.3848C>A (p.Ser1283Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3554C>A (p.Ser1185Tyr)
3g.38712412A=CA1358633482SCN10Ac.3838T= (p.Ser1280=)
c.3835T= (p.Ser1279=)
c.3862T= (p.Ser1288=)
c.3544T= (p.Ser1182=)
c.3847T= (p.Ser1283=)
c.3844T= (p.Ser1282=)
c.3553T= (p.Ser1185=)
3g.38712412A>CCA352151349SCN10Ac.3838T>G (p.Ser1280Ala)
c.3835T>G (p.Ser1279Ala)
c.3862T>G (p.Ser1288Ala)
c.3544T>G (p.Ser1182Ala)
c.3847T>G (p.Ser1283Ala)
c.3844T>G (p.Ser1282Ala)
c.3553T>G (p.Ser1185Ala)
3g.38712412A>GCA352151350SCN10Ac.3838T>C (p.Ser1280Pro)
c.3835T>C (p.Ser1279Pro)
c.3862T>C (p.Ser1288Pro)
c.3544T>C (p.Ser1182Pro)
c.3847T>C (p.Ser1283Pro)
c.3844T>C (p.Ser1282Pro)
c.3553T>C (p.Ser1185Pro)
 dbSNP
3g.38712412A>TCA2320083SCN10Ac.3838T>A (p.Ser1280Thr)
c.3835T>A (p.Ser1279Thr)
c.3862T>A (p.Ser1288Thr)
c.3544T>A (p.Ser1182Thr)
c.3847T>A (p.Ser1283Thr)
c.3844T>A (p.Ser1282Thr)
c.3553T>A (p.Ser1185Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712413T>ACA433334084SCN10Ac.3837A>T (p.Pro1279=)
c.3834A>T (p.Pro1278=)
c.3861A>T (p.Pro1287=)
c.3543A>T (p.Pro1181=)
c.3846A>T (p.Pro1282=)
c.3843A>T (p.Pro1281=)
c.3552A>T (p.Pro1184=)
 ClinVar
3g.38712413T>CCA433334085SCN10Ac.3837A>G (p.Pro1279=)
c.3834A>G (p.Pro1278=)
c.3861A>G (p.Pro1287=)
c.3543A>G (p.Pro1181=)
c.3846A>G (p.Pro1282=)
c.3843A>G (p.Pro1281=)
c.3552A>G (p.Pro1184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38712413T>GCA433334086SCN10Ac.3837A>C (p.Pro1279=)
c.3834A>C (p.Pro1278=)
c.3861A>C (p.Pro1287=)
c.3543A>C (p.Pro1181=)
c.3846A>C (p.Pro1282=)
c.3843A>C (p.Pro1281=)
c.3552A>C (p.Pro1184=)
3g.38712413T=CA1358633486SCN10Ac.3837A= (p.Pro1279=)
c.3834A= (p.Pro1278=)
c.3861A= (p.Pro1287=)
c.3543A= (p.Pro1181=)
c.3846A= (p.Pro1282=)
c.3843A= (p.Pro1281=)
c.3552A= (p.Pro1184=)
3g.38712414G>ACA352151351SCN10Ac.3836C>T (p.Pro1279Leu)
c.3833C>T (p.Pro1278Leu)
c.3860C>T (p.Pro1287Leu)
c.3542C>T (p.Pro1181Leu)
c.3845C>T (p.Pro1282Leu)
c.3842C>T (p.Pro1281Leu)
c.3551C>T (p.Pro1184Leu)
3g.38712414G>CCA352151352SCN10Ac.3836C>G (p.Pro1279Arg)
c.3833C>G (p.Pro1278Arg)
c.3860C>G (p.Pro1287Arg)
c.3542C>G (p.Pro1181Arg)
c.3845C>G (p.Pro1282Arg)
c.3842C>G (p.Pro1281Arg)
c.3551C>G (p.Pro1184Arg)
3g.38712414G=CA1358633489SCN10Ac.3836C= (p.Pro1279=)
c.3833C= (p.Pro1278=)
c.3860C= (p.Pro1287=)
c.3542C= (p.Pro1181=)
c.3845C= (p.Pro1282=)
c.3842C= (p.Pro1281=)
c.3551C= (p.Pro1184=)
3g.38712414G>TCA2320084SCN10Ac.3836C>A (p.Pro1279Gln)
c.3833C>A (p.Pro1278Gln)
c.3860C>A (p.Pro1287Gln)
c.3542C>A (p.Pro1181Gln)
c.3845C>A (p.Pro1282Gln)
c.3842C>A (p.Pro1281Gln)
c.3551C>A (p.Pro1184Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712415G>ACA352151355SCN10Ac.3835C>T (p.Pro1279Ser)
c.3832C>T (p.Pro1278Ser)
c.3859C>T (p.Pro1287Ser)
c.3541C>T (p.Pro1181Ser)
c.3844C>T (p.Pro1282Ser)
c.3841C>T (p.Pro1281Ser)
c.3550C>T (p.Pro1184Ser)
 COSMIC
3g.38712415G>CCA352151354SCN10Ac.3835C>G (p.Pro1279Ala)
c.3832C>G (p.Pro1278Ala)
c.3859C>G (p.Pro1287Ala)
c.3541C>G (p.Pro1181Ala)
c.3844C>G (p.Pro1282Ala)
c.3841C>G (p.Pro1281Ala)
c.3550C>G (p.Pro1184Ala)
3g.38712415G>TCA352151353SCN10Ac.3835C>A (p.Pro1279Thr)
c.3832C>A (p.Pro1278Thr)
c.3859C>A (p.Pro1287Thr)
c.3541C>A (p.Pro1181Thr)
c.3844C>A (p.Pro1282Thr)
c.3841C>A (p.Pro1281Thr)
c.3550C>A (p.Pro1184Thr)
3g.38712416G>ACA433334088SCN10Ac.3834C>T (p.Ile1278=)
c.3831C>T (p.Ile1277=)
c.3858C>T (p.Ile1286=)
c.3540C>T (p.Ile1180=)
c.3843C>T (p.Ile1281=)
c.3840C>T (p.Ile1280=)
c.3549C>T (p.Ile1183=)
 dbSNP gnomAD v4
3g.38712416G>CCA352151356SCN10Ac.3834C>G (p.Ile1278Met)
c.3831C>G (p.Ile1277Met)
c.3858C>G (p.Ile1286Met)
c.3540C>G (p.Ile1180Met)
c.3843C>G (p.Ile1281Met)
c.3840C>G (p.Ile1280Met)
c.3549C>G (p.Ile1183Met)
3g.38712416G>TCA433334087SCN10Ac.3834C>A (p.Ile1278=)
c.3831C>A (p.Ile1277=)
c.3858C>A (p.Ile1286=)
c.3540C>A (p.Ile1180=)
c.3843C>A (p.Ile1281=)
c.3840C>A (p.Ile1280=)
c.3549C>A (p.Ile1183=)
 gnomAD v4
3g.38712417A>CCA352151357SCN10Ac.3833T>G (p.Ile1278Ser)
c.3830T>G (p.Ile1277Ser)
c.3857T>G (p.Ile1286Ser)
c.3539T>G (p.Ile1180Ser)
c.3842T>G (p.Ile1281Ser)
c.3839T>G (p.Ile1280Ser)
c.3548T>G (p.Ile1183Ser)
3g.38712417A>GCA352151358SCN10Ac.3833T>C (p.Ile1278Thr)
c.3830T>C (p.Ile1277Thr)
c.3857T>C (p.Ile1286Thr)
c.3539T>C (p.Ile1180Thr)
c.3842T>C (p.Ile1281Thr)
c.3839T>C (p.Ile1280Thr)
c.3548T>C (p.Ile1183Thr)
3g.38712417A>TCA352151359SCN10Ac.3833T>A (p.Ile1278Asn)
c.3830T>A (p.Ile1277Asn)
c.3857T>A (p.Ile1286Asn)
c.3539T>A (p.Ile1180Asn)
c.3842T>A (p.Ile1281Asn)
c.3839T>A (p.Ile1280Asn)
c.3548T>A (p.Ile1183Asn)
3g.38712418T>ACA352151360SCN10Ac.3832A>T (p.Ile1278Phe)
c.3829A>T (p.Ile1277Phe)
c.3856A>T (p.Ile1286Phe)
c.3538A>T (p.Ile1180Phe)
c.3841A>T (p.Ile1281Phe)
c.3838A>T (p.Ile1280Phe)
c.3547A>T (p.Ile1183Phe)
3g.38712418T>CCA352151361SCN10Ac.3832A>G (p.Ile1278Val)
c.3829A>G (p.Ile1277Val)
c.3856A>G (p.Ile1286Val)
c.3538A>G (p.Ile1180Val)
c.3841A>G (p.Ile1281Val)
c.3838A>G (p.Ile1280Val)
c.3547A>G (p.Ile1183Val)
3g.38712418T>GCA352151362SCN10Ac.3832A>C (p.Ile1278Leu)
c.3829A>C (p.Ile1277Leu)
c.3856A>C (p.Ile1286Leu)
c.3538A>C (p.Ile1180Leu)
c.3841A>C (p.Ile1281Leu)
c.3838A>C (p.Ile1280Leu)
c.3547A>C (p.Ile1183Leu)
3g.38712419G>ACA433334095SCN10Ac.3831C>T (p.Ala1277=)
c.3828C>T (p.Ala1276=)
c.3855C>T (p.Ala1285=)
c.3537C>T (p.Ala1179=)
c.3840C>T (p.Ala1280=)
c.3837C>T (p.Ala1279=)
c.3546C>T (p.Ala1182=)
3g.38712419G>CCA433334094SCN10Ac.3831C>G (p.Ala1277=)
c.3828C>G (p.Ala1276=)
c.3855C>G (p.Ala1285=)
c.3537C>G (p.Ala1179=)
c.3840C>G (p.Ala1280=)
c.3837C>G (p.Ala1279=)
c.3546C>G (p.Ala1182=)
3g.38712419G>TCA433334093SCN10Ac.3831C>A (p.Ala1277=)
c.3828C>A (p.Ala1276=)
c.3855C>A (p.Ala1285=)
c.3537C>A (p.Ala1179=)
c.3840C>A (p.Ala1280=)
c.3837C>A (p.Ala1279=)
c.3546C>A (p.Ala1182=)
3g.38712420G>ACA352151363SCN10Ac.3830C>T (p.Ala1277Val)
c.3827C>T (p.Ala1276Val)
c.3854C>T (p.Ala1285Val)
c.3536C>T (p.Ala1179Val)
c.3839C>T (p.Ala1280Val)
c.3836C>T (p.Ala1279Val)
c.3545C>T (p.Ala1182Val)
3g.38712420G>CCA352151364SCN10Ac.3830C>G (p.Ala1277Gly)
c.3827C>G (p.Ala1276Gly)
c.3854C>G (p.Ala1285Gly)
c.3536C>G (p.Ala1179Gly)
c.3839C>G (p.Ala1280Gly)
c.3836C>G (p.Ala1279Gly)
c.3545C>G (p.Ala1182Gly)
3g.38712420G>TCA352151365SCN10Ac.3830C>A (p.Ala1277Asp)
c.3827C>A (p.Ala1276Asp)
c.3854C>A (p.Ala1285Asp)
c.3536C>A (p.Ala1179Asp)
c.3839C>A (p.Ala1280Asp)
c.3836C>A (p.Ala1279Asp)
c.3545C>A (p.Ala1182Asp)
3g.38712421C>ACA352151366SCN10Ac.3829G>T (p.Ala1277Ser)
c.3826G>T (p.Ala1276Ser)
c.3853G>T (p.Ala1285Ser)
c.3535G>T (p.Ala1179Ser)
c.3838G>T (p.Ala1280Ser)
c.3835G>T (p.Ala1279Ser)
c.3544G>T (p.Ala1182Ser)
3g.38712421C=CA1358633491SCN10Ac.3829G= (p.Ala1277=)
c.3826G= (p.Ala1276=)
c.3853G= (p.Ala1285=)
c.3535G= (p.Ala1179=)
c.3838G= (p.Ala1280=)
c.3835G= (p.Ala1279=)
c.3544G= (p.Ala1182=)
3g.38712421C>GCA352151367SCN10Ac.3829G>C (p.Ala1277Pro)
c.3826G>C (p.Ala1276Pro)
c.3853G>C (p.Ala1285Pro)
c.3535G>C (p.Ala1179Pro)
c.3838G>C (p.Ala1280Pro)
c.3835G>C (p.Ala1279Pro)
c.3544G>C (p.Ala1182Pro)
3g.38712421C>TCA352151368SCN10Ac.3829G>A (p.Ala1277Thr)
c.3826G>A (p.Ala1276Thr)
c.3853G>A (p.Ala1285Thr)
c.3535G>A (p.Ala1179Thr)
c.3838G>A (p.Ala1280Thr)
c.3835G>A (p.Ala1279Thr)
c.3544G>A (p.Ala1182Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712422G>ACA2320085SCN10Ac.3828C>T (p.Gly1276=)
c.3825C>T (p.Gly1275=)
c.3852C>T (p.Gly1284=)
c.3534C>T (p.Gly1178=)
c.3837C>T (p.Gly1279=)
c.3834C>T (p.Gly1278=)
c.3543C>T (p.Gly1181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712422G>CCA433334099SCN10Ac.3828C>G (p.Gly1276=)
c.3825C>G (p.Gly1275=)
c.3852C>G (p.Gly1284=)
c.3534C>G (p.Gly1178=)
c.3837C>G (p.Gly1279=)
c.3834C>G (p.Gly1278=)
c.3543C>G (p.Gly1181=)
 dbSNP gnomAD v4
3g.38712422G=CA1358633495SCN10Ac.3828C= (p.Gly1276=)
c.3825C= (p.Gly1275=)
c.3852C= (p.Gly1284=)
c.3534C= (p.Gly1178=)
c.3837C= (p.Gly1279=)
c.3834C= (p.Gly1278=)
c.3543C= (p.Gly1181=)
3g.38712422G>TCA433334098SCN10Ac.3828C>A (p.Gly1276=)
c.3825C>A (p.Gly1275=)
c.3852C>A (p.Gly1284=)
c.3534C>A (p.Gly1178=)
c.3837C>A (p.Gly1279=)
c.3834C>A (p.Gly1278=)
c.3543C>A (p.Gly1181=)
 ClinVar dbSNP
3g.38712423C>ACA352151371SCN10Ac.3827G>T (p.Gly1276Val)
c.3824G>T (p.Gly1275Val)
c.3851G>T (p.Gly1284Val)
c.3533G>T (p.Gly1178Val)
c.3836G>T (p.Gly1279Val)
c.3833G>T (p.Gly1278Val)
c.3542G>T (p.Gly1181Val)
3g.38712423C=CA1358633497SCN10Ac.3827G= (p.Gly1276=)
c.3824G= (p.Gly1275=)
c.3851G= (p.Gly1284=)
c.3533G= (p.Gly1178=)
c.3836G= (p.Gly1279=)
c.3833G= (p.Gly1278=)
c.3542G= (p.Gly1181=)
3g.38712423C>GCA352151369SCN10Ac.3827G>C (p.Gly1276Ala)
c.3824G>C (p.Gly1275Ala)
c.3851G>C (p.Gly1284Ala)
c.3533G>C (p.Gly1178Ala)
c.3836G>C (p.Gly1279Ala)
c.3833G>C (p.Gly1278Ala)
c.3542G>C (p.Gly1181Ala)
3g.38712423C>TCA352151370SCN10Ac.3827G>A (p.Gly1276Asp)
c.3824G>A (p.Gly1275Asp)
c.3851G>A (p.Gly1284Asp)
c.3533G>A (p.Gly1178Asp)
c.3836G>A (p.Gly1279Asp)
c.3833G>A (p.Gly1278Asp)
c.3542G>A (p.Gly1181Asp)
 dbSNP gnomAD v4
3g.38712424C>ACA352151372SCN10Ac.3826G>T (p.Gly1276Cys)
c.3823G>T (p.Gly1275Cys)
c.3850G>T (p.Gly1284Cys)
c.3532G>T (p.Gly1178Cys)
c.3835G>T (p.Gly1279Cys)
c.3832G>T (p.Gly1278Cys)
c.3541G>T (p.Gly1181Cys)
3g.38712424C>GCA352151373SCN10Ac.3826G>C (p.Gly1276Arg)
c.3823G>C (p.Gly1275Arg)
c.3850G>C (p.Gly1284Arg)
c.3532G>C (p.Gly1178Arg)
c.3835G>C (p.Gly1279Arg)
c.3832G>C (p.Gly1278Arg)
c.3541G>C (p.Gly1181Arg)
3g.38712424C>TCA352151374SCN10Ac.3826G>A (p.Gly1276Ser)
c.3823G>A (p.Gly1275Ser)
c.3850G>A (p.Gly1284Ser)
c.3532G>A (p.Gly1178Ser)
c.3835G>A (p.Gly1279Ser)
c.3832G>A (p.Gly1278Ser)
c.3541G>A (p.Gly1181Ser)
3g.38712425C>ACA433334102SCN10Ac.3825G>T (p.Val1275=)
c.3822G>T (p.Val1274=)
c.3849G>T (p.Val1283=)
c.3531G>T (p.Val1177=)
c.3834G>T (p.Val1278=)
c.3831G>T (p.Val1277=)
c.3540G>T (p.Val1180=)
3g.38712425C=CA1358633499SCN10Ac.3825G= (p.Val1275=)
c.3822G= (p.Val1274=)
c.3849G= (p.Val1283=)
c.3531G= (p.Val1177=)
c.3834G= (p.Val1278=)
c.3831G= (p.Val1277=)
c.3540G= (p.Val1180=)
3g.38712425C>GCA433334103SCN10Ac.3825G>C (p.Val1275=)
c.3822G>C (p.Val1274=)
c.3849G>C (p.Val1283=)
c.3531G>C (p.Val1177=)
c.3834G>C (p.Val1278=)
c.3831G>C (p.Val1277=)
c.3540G>C (p.Val1180=)
3g.38712425C>TCA433334104SCN10Ac.3825G>A (p.Val1275=)
c.3822G>A (p.Val1274=)
c.3849G>A (p.Val1283=)
c.3531G>A (p.Val1177=)
c.3834G>A (p.Val1278=)
c.3831G>A (p.Val1277=)
c.3540G>A (p.Val1180=)
 dbSNP gnomAD v4
3g.38712426A=CA1358633502SCN10Ac.3824T= (p.Val1275=)
c.3821T= (p.Val1274=)
c.3848T= (p.Val1283=)
c.3530T= (p.Val1177=)
c.3833T= (p.Val1278=)
c.3830T= (p.Val1277=)
c.3539T= (p.Val1180=)
3g.38712426A>CCA352151375SCN10Ac.3824T>G (p.Val1275Gly)
c.3821T>G (p.Val1274Gly)
c.3848T>G (p.Val1283Gly)
c.3530T>G (p.Val1177Gly)
c.3833T>G (p.Val1278Gly)
c.3830T>G (p.Val1277Gly)
c.3539T>G (p.Val1180Gly)
3g.38712426A>GCA352151376SCN10Ac.3824T>C (p.Val1275Ala)
c.3821T>C (p.Val1274Ala)
c.3848T>C (p.Val1283Ala)
c.3530T>C (p.Val1177Ala)
c.3833T>C (p.Val1278Ala)
c.3830T>C (p.Val1277Ala)
c.3539T>C (p.Val1180Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.38712426A>TCA352151377SCN10Ac.3824T>A (p.Val1275Glu)
c.3821T>A (p.Val1274Glu)
c.3848T>A (p.Val1283Glu)
c.3530T>A (p.Val1177Glu)
c.3833T>A (p.Val1278Glu)
c.3830T>A (p.Val1277Glu)
c.3539T>A (p.Val1180Glu)
3g.38712427C>ACA352151378SCN10Ac.3823G>T (p.Val1275Leu)
c.3820G>T (p.Val1274Leu)
c.3847G>T (p.Val1283Leu)
c.3529G>T (p.Val1177Leu)
c.3832G>T (p.Val1278Leu)
c.3829G>T (p.Val1277Leu)
c.3538G>T (p.Val1180Leu)
3g.38712427C=CA1358633503SCN10Ac.3823G= (p.Val1275=)
c.3820G= (p.Val1274=)
c.3847G= (p.Val1283=)
c.3529G= (p.Val1177=)
c.3832G= (p.Val1278=)
c.3829G= (p.Val1277=)
c.3538G= (p.Val1180=)
3g.38712427C>GCA352151379SCN10Ac.3823G>C (p.Val1275Leu)
c.3820G>C (p.Val1274Leu)
c.3847G>C (p.Val1283Leu)
c.3529G>C (p.Val1177Leu)
c.3832G>C (p.Val1278Leu)
c.3829G>C (p.Val1277Leu)
c.3538G>C (p.Val1180Leu)
3g.38712427C>TCA352151380SCN10Ac.3823G>A (p.Val1275Met)
c.3820G>A (p.Val1274Met)
c.3847G>A (p.Val1283Met)
c.3529G>A (p.Val1177Met)
c.3832G>A (p.Val1278Met)
c.3829G>A (p.Val1277Met)
c.3538G>A (p.Val1180Met)
 dbSNP
3g.38712428C>ACA433334105SCN10Ac.3822G>T (p.Leu1274=)
c.3819G>T (p.Leu1273=)
c.3846G>T (p.Leu1282=)
c.3528G>T (p.Leu1176=)
c.3831G>T (p.Leu1277=)
c.3828G>T (p.Leu1276=)
c.3537G>T (p.Leu1179=)
3g.38712428C=CA1358633506SCN10Ac.3822G= (p.Leu1274=)
c.3819G= (p.Leu1273=)
c.3846G= (p.Leu1282=)
c.3528G= (p.Leu1176=)
c.3831G= (p.Leu1277=)
c.3828G= (p.Leu1276=)
c.3537G= (p.Leu1179=)
3g.38712428C>GCA2320087SCN10Ac.3822G>C (p.Leu1274=)
c.3819G>C (p.Leu1273=)
c.3846G>C (p.Leu1282=)
c.3528G>C (p.Leu1176=)
c.3831G>C (p.Leu1277=)
c.3828G>C (p.Leu1276=)
c.3537G>C (p.Leu1179=)
 dbSNP ExAC gnomAD v2
3g.38712428C>TCA2320086SCN10Ac.3822G>A (p.Leu1274=)
c.3819G>A (p.Leu1273=)
c.3846G>A (p.Leu1282=)
c.3528G>A (p.Leu1176=)
c.3831G>A (p.Leu1277=)
c.3828G>A (p.Leu1276=)
c.3537G>A (p.Leu1179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712429A>CCA352151382SCN10Ac.3821T>G (p.Leu1274Arg)
c.3818T>G (p.Leu1273Arg)
c.3845T>G (p.Leu1282Arg)
c.3527T>G (p.Leu1176Arg)
c.3830T>G (p.Leu1277Arg)
c.3827T>G (p.Leu1276Arg)
c.3536T>G (p.Leu1179Arg)
3g.38712429A>GCA352151383SCN10Ac.3821T>C (p.Leu1274Pro)
c.3818T>C (p.Leu1273Pro)
c.3845T>C (p.Leu1282Pro)
c.3527T>C (p.Leu1176Pro)
c.3830T>C (p.Leu1277Pro)
c.3827T>C (p.Leu1276Pro)
c.3536T>C (p.Leu1179Pro)
3g.38712429A>TCA352151381SCN10Ac.3821T>A (p.Leu1274Gln)
c.3818T>A (p.Leu1273Gln)
c.3845T>A (p.Leu1282Gln)
c.3527T>A (p.Leu1176Gln)
c.3830T>A (p.Leu1277Gln)
c.3827T>A (p.Leu1276Gln)
c.3536T>A (p.Leu1179Gln)
3g.38712430G>ACA433334108SCN10Ac.3820C>T (p.Leu1274=)
c.3817C>T (p.Leu1273=)
c.3844C>T (p.Leu1282=)
c.3526C>T (p.Leu1176=)
c.3829C>T (p.Leu1277=)
c.3826C>T (p.Leu1276=)
c.3535C>T (p.Leu1179=)
3g.38712430G>CCA352151384SCN10Ac.3820C>G (p.Leu1274Val)
c.3817C>G (p.Leu1273Val)
c.3844C>G (p.Leu1282Val)
c.3526C>G (p.Leu1176Val)
c.3829C>G (p.Leu1277Val)
c.3826C>G (p.Leu1276Val)
c.3535C>G (p.Leu1179Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38712430G=CA1358633513SCN10Ac.3820C= (p.Leu1274=)
c.3817C= (p.Leu1273=)
c.3844C= (p.Leu1282=)
c.3526C= (p.Leu1176=)
c.3829C= (p.Leu1277=)
c.3826C= (p.Leu1276=)
c.3535C= (p.Leu1179=)
3g.38712430G>TCA352151385SCN10Ac.3820C>A (p.Leu1274Met)
c.3817C>A (p.Leu1273Met)
c.3844C>A (p.Leu1282Met)
c.3526C>A (p.Leu1176Met)
c.3829C>A (p.Leu1277Met)
c.3826C>A (p.Leu1276Met)
c.3535C>A (p.Leu1179Met)
3g.38712431G>ACA433334112SCN10Ac.3819C>T (p.Ala1273=)
c.3816C>T (p.Ala1272=)
c.3843C>T (p.Ala1281=)
c.3525C>T (p.Ala1175=)
c.3828C>T (p.Ala1276=)
c.3825C>T (p.Ala1275=)
c.3534C>T (p.Ala1178=)
 dbSNP gnomAD v2
3g.38712431G>CCA433334113SCN10Ac.3819C>G (p.Ala1273=)
c.3816C>G (p.Ala1272=)
c.3843C>G (p.Ala1281=)
c.3525C>G (p.Ala1175=)
c.3828C>G (p.Ala1276=)
c.3825C>G (p.Ala1275=)
c.3534C>G (p.Ala1178=)
3g.38712431G=CA1358633516SCN10Ac.3819C= (p.Ala1273=)
c.3816C= (p.Ala1272=)
c.3843C= (p.Ala1281=)
c.3525C= (p.Ala1175=)
c.3828C= (p.Ala1276=)
c.3825C= (p.Ala1275=)
c.3534C= (p.Ala1178=)
3g.38712431G>TCA433334114SCN10Ac.3819C>A (p.Ala1273=)
c.3816C>A (p.Ala1272=)
c.3843C>A (p.Ala1281=)
c.3525C>A (p.Ala1175=)
c.3828C>A (p.Ala1276=)
c.3825C>A (p.Ala1275=)
c.3534C>A (p.Ala1178=)
3g.38712432G>ACA2320088SCN10Ac.3818C>T (p.Ala1273Val)
c.3815C>T (p.Ala1272Val)
c.3842C>T (p.Ala1281Val)
c.3524C>T (p.Ala1175Val)
c.3827C>T (p.Ala1276Val)
c.3824C>T (p.Ala1275Val)
c.3533C>T (p.Ala1178Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712432G>CCA352151386SCN10Ac.3818C>G (p.Ala1273Gly)
c.3815C>G (p.Ala1272Gly)
c.3842C>G (p.Ala1281Gly)
c.3524C>G (p.Ala1175Gly)
c.3827C>G (p.Ala1276Gly)
c.3824C>G (p.Ala1275Gly)
c.3533C>G (p.Ala1178Gly)
3g.38712432G=CA1358633521SCN10Ac.3818C= (p.Ala1273=)
c.3815C= (p.Ala1272=)
c.3842C= (p.Ala1281=)
c.3524C= (p.Ala1175=)
c.3827C= (p.Ala1276=)
c.3824C= (p.Ala1275=)
c.3533C= (p.Ala1178=)
3g.38712432G>TCA352151387SCN10Ac.3818C>A (p.Ala1273Asp)
c.3815C>A (p.Ala1272Asp)
c.3842C>A (p.Ala1281Asp)
c.3524C>A (p.Ala1175Asp)
c.3827C>A (p.Ala1276Asp)
c.3824C>A (p.Ala1275Asp)
c.3533C>A (p.Ala1178Asp)
3g.38712433C>ACA352151390SCN10Ac.3817G>T (p.Ala1273Ser)
c.3814G>T (p.Ala1272Ser)
c.3841G>T (p.Ala1281Ser)
c.3523G>T (p.Ala1175Ser)
c.3826G>T (p.Ala1276Ser)
c.3823G>T (p.Ala1275Ser)
c.3532G>T (p.Ala1178Ser)
3g.38712433C=CA1358633523SCN10Ac.3817G= (p.Ala1273=)
c.3814G= (p.Ala1272=)
c.3841G= (p.Ala1281=)
c.3523G= (p.Ala1175=)
c.3826G= (p.Ala1276=)
c.3823G= (p.Ala1275=)
c.3532G= (p.Ala1178=)
3g.38712433C>GCA352151388SCN10Ac.3817G>C (p.Ala1273Pro)
c.3814G>C (p.Ala1272Pro)
c.3841G>C (p.Ala1281Pro)
c.3523G>C (p.Ala1175Pro)
c.3826G>C (p.Ala1276Pro)
c.3823G>C (p.Ala1275Pro)
c.3532G>C (p.Ala1178Pro)
3g.38712433C>TCA352151389SCN10Ac.3817G>A (p.Ala1273Thr)
c.3814G>A (p.Ala1272Thr)
c.3841G>A (p.Ala1281Thr)
c.3523G>A (p.Ala1175Thr)
c.3826G>A (p.Ala1276Thr)
c.3823G>A (p.Ala1275Thr)
c.3532G>A (p.Ala1178Thr)
 dbSNP
3g.38712434A>CCA352151391SCN10Ac.3816T>G (p.Asp1272Glu)
c.3813T>G (p.Asp1271Glu)
c.3840T>G (p.Asp1280Glu)
c.3522T>G (p.Asp1174Glu)
c.3825T>G (p.Asp1275Glu)
c.3822T>G (p.Asp1274Glu)
c.3531T>G (p.Asp1177Glu)
3g.38712434A>GCA433334117SCN10Ac.3816T>C (p.Asp1272=)
c.3813T>C (p.Asp1271=)
c.3840T>C (p.Asp1280=)
c.3522T>C (p.Asp1174=)
c.3825T>C (p.Asp1275=)
c.3822T>C (p.Asp1274=)
c.3531T>C (p.Asp1177=)
3g.38712434A>TCA352151392SCN10Ac.3816T>A (p.Asp1272Glu)
c.3813T>A (p.Asp1271Glu)
c.3840T>A (p.Asp1280Glu)
c.3522T>A (p.Asp1174Glu)
c.3825T>A (p.Asp1275Glu)
c.3822T>A (p.Asp1274Glu)
c.3531T>A (p.Asp1177Glu)
3g.38712435T>ACA352151393SCN10Ac.3815A>T (p.Asp1272Val)
c.3812A>T (p.Asp1271Val)
c.3839A>T (p.Asp1280Val)
c.3521A>T (p.Asp1174Val)
c.3824A>T (p.Asp1275Val)
c.3821A>T (p.Asp1274Val)
c.3530A>T (p.Asp1177Val)
3g.38712435T>CCA352151394SCN10Ac.3815A>G (p.Asp1272Gly)
c.3812A>G (p.Asp1271Gly)
c.3839A>G (p.Asp1280Gly)
c.3521A>G (p.Asp1174Gly)
c.3824A>G (p.Asp1275Gly)
c.3821A>G (p.Asp1274Gly)
c.3530A>G (p.Asp1177Gly)
 gnomAD v4
3g.38712435T>GCA352151395SCN10Ac.3815A>C (p.Asp1272Ala)
c.3812A>C (p.Asp1271Ala)
c.3839A>C (p.Asp1280Ala)
c.3521A>C (p.Asp1174Ala)
c.3824A>C (p.Asp1275Ala)
c.3821A>C (p.Asp1274Ala)
c.3530A>C (p.Asp1177Ala)
3g.38712435_38712438delinsTCCACA1358633525SCN10Ac.3812_3815delinsTGGA (p.Val1271=)
c.3809_3812delinsTGGA (p.Val1270=)
c.3836_3839delinsTGGA (p.Val1279=)
c.3518_3521delinsTGGA (p.Val1173=)
c.3821_3824delinsTGGA (p.Val1274=)
c.3818_3821delinsTGGA (p.Val1273=)
c.3527_3530delinsTGGA (p.Val1176=)
3g.38712436C>ACA352151396SCN10Ac.3814G>T (p.Asp1272Tyr)
c.3811G>T (p.Asp1271Tyr)
c.3838G>T (p.Asp1280Tyr)
c.3520G>T (p.Asp1174Tyr)
c.3823G>T (p.Asp1275Tyr)
c.3820G>T (p.Asp1274Tyr)
c.3529G>T (p.Asp1177Tyr)
3g.38712436C>GCA352151398SCN10Ac.3814G>C (p.Asp1272His)
c.3811G>C (p.Asp1271His)
c.3838G>C (p.Asp1280His)
c.3520G>C (p.Asp1174His)
c.3823G>C (p.Asp1275His)
c.3820G>C (p.Asp1274His)
c.3529G>C (p.Asp1177His)
3g.38712436C>TCA352151397SCN10Ac.3814G>A (p.Asp1272Asn)
c.3811G>A (p.Asp1271Asn)
c.3838G>A (p.Asp1280Asn)
c.3520G>A (p.Asp1174Asn)
c.3823G>A (p.Asp1275Asn)
c.3820G>A (p.Asp1274Asn)
c.3529G>A (p.Asp1177Asn)
 ClinVar
3g.38712444_38712446delCA1358633527SCN10Ac.3812_3814del
c.3809_3811del
c.3836_3838del
c.3518_3520del
c.3821_3823del
c.3818_3820del
c.3527_3529del
 dbSNP
3g.38712437C>ACA433334121SCN10Ac.3813G>T (p.Val1271=)
c.3810G>T (p.Val1270=)
c.3837G>T (p.Val1279=)
c.3519G>T (p.Val1173=)
c.3822G>T (p.Val1274=)
c.3819G>T (p.Val1273=)
c.3528G>T (p.Val1176=)
3g.38712437C>GCA433334123SCN10Ac.3813G>C (p.Val1271=)
c.3810G>C (p.Val1270=)
c.3837G>C (p.Val1279=)
c.3519G>C (p.Val1173=)
c.3822G>C (p.Val1274=)
c.3819G>C (p.Val1273=)
c.3528G>C (p.Val1176=)
3g.38712437C>TCA433334122SCN10Ac.3813G>A (p.Val1271=)
c.3810G>A (p.Val1270=)
c.3837G>A (p.Val1279=)
c.3519G>A (p.Val1173=)
c.3822G>A (p.Val1274=)
c.3819G>A (p.Val1273=)
c.3528G>A (p.Val1176=)
 ClinVar COSMIC
3g.38712438A=CA1358633532SCN10Ac.3812T= (p.Val1271=)
c.3809T= (p.Val1270=)
c.3836T= (p.Val1279=)
c.3518T= (p.Val1173=)
c.3821T= (p.Val1274=)
c.3818T= (p.Val1273=)
c.3527T= (p.Val1176=)
3g.38712438A>CCA352151399SCN10Ac.3812T>G (p.Val1271Gly)
c.3809T>G (p.Val1270Gly)
c.3836T>G (p.Val1279Gly)
c.3518T>G (p.Val1173Gly)
c.3821T>G (p.Val1274Gly)
c.3818T>G (p.Val1273Gly)
c.3527T>G (p.Val1176Gly)
3g.38712438A>GCA352151401SCN10Ac.3812T>C (p.Val1271Ala)
c.3809T>C (p.Val1270Ala)
c.3836T>C (p.Val1279Ala)
c.3518T>C (p.Val1173Ala)
c.3821T>C (p.Val1274Ala)
c.3818T>C (p.Val1273Ala)
c.3527T>C (p.Val1176Ala)
 dbSNP
3g.38712438A>TCA352151400SCN10Ac.3812T>A (p.Val1271Glu)
c.3809T>A (p.Val1270Glu)
c.3836T>A (p.Val1279Glu)
c.3518T>A (p.Val1173Glu)
c.3821T>A (p.Val1274Glu)
c.3818T>A (p.Val1273Glu)
c.3527T>A (p.Val1176Glu)
3g.38712439C>ACA352151402SCN10Ac.3811G>T (p.Val1271Leu)
c.3808G>T (p.Val1270Leu)
c.3835G>T (p.Val1279Leu)
c.3517G>T (p.Val1173Leu)
c.3820G>T (p.Val1274Leu)
c.3817G>T (p.Val1273Leu)
c.3526G>T (p.Val1176Leu)
3g.38712439C=CA1358633533SCN10Ac.3811G= (p.Val1271=)
c.3808G= (p.Val1270=)
c.3835G= (p.Val1279=)
c.3517G= (p.Val1173=)
c.3820G= (p.Val1274=)
c.3817G= (p.Val1273=)
c.3526G= (p.Val1176=)
3g.38712439C>GCA352151403SCN10Ac.3811G>C (p.Val1271Leu)
c.3808G>C (p.Val1270Leu)
c.3835G>C (p.Val1279Leu)
c.3517G>C (p.Val1173Leu)
c.3820G>C (p.Val1274Leu)
c.3817G>C (p.Val1273Leu)
c.3526G>C (p.Val1176Leu)
3g.38712439C>TCA2320089SCN10Ac.3811G>A (p.Val1271Met)
c.3808G>A (p.Val1270Met)
c.3835G>A (p.Val1279Met)
c.3517G>A (p.Val1173Met)
c.3820G>A (p.Val1274Met)
c.3817G>A (p.Val1273Met)
c.3526G>A (p.Val1176Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712440C>ACA433334128SCN10Ac.3810G>T (p.Val1270=)
c.3807G>T (p.Val1269=)
c.3834G>T (p.Val1278=)
c.3516G>T (p.Val1172=)
c.3819G>T (p.Val1273=)
c.3816G>T (p.Val1272=)
c.3525G>T (p.Val1175=)
 dbSNP gnomAD v3 gnomAD v4
3g.38712440C=CA1358633535SCN10Ac.3810G= (p.Val1270=)
c.3807G= (p.Val1269=)
c.3834G= (p.Val1278=)
c.3516G= (p.Val1172=)
c.3819G= (p.Val1273=)
c.3816G= (p.Val1272=)
c.3525G= (p.Val1175=)
3g.38712440C>GCA433334129SCN10Ac.3810G>C (p.Val1270=)
c.3807G>C (p.Val1269=)
c.3834G>C (p.Val1278=)
c.3516G>C (p.Val1172=)
c.3819G>C (p.Val1273=)
c.3816G>C (p.Val1272=)
c.3525G>C (p.Val1175=)
3g.38712440C>TCA433334130SCN10Ac.3810G>A (p.Val1270=)
c.3807G>A (p.Val1269=)
c.3834G>A (p.Val1278=)
c.3516G>A (p.Val1172=)
c.3819G>A (p.Val1273=)
c.3816G>A (p.Val1272=)
c.3525G>A (p.Val1175=)
3g.38712441A>CCA352151404SCN10Ac.3809T>G (p.Val1270Gly)
c.3806T>G (p.Val1269Gly)
c.3833T>G (p.Val1278Gly)
c.3515T>G (p.Val1172Gly)
c.3818T>G (p.Val1273Gly)
c.3815T>G (p.Val1272Gly)
c.3524T>G (p.Val1175Gly)
3g.38712441A>GCA352151405SCN10Ac.3809T>C (p.Val1270Ala)
c.3806T>C (p.Val1269Ala)
c.3833T>C (p.Val1278Ala)
c.3515T>C (p.Val1172Ala)
c.3818T>C (p.Val1273Ala)
c.3815T>C (p.Val1272Ala)
c.3524T>C (p.Val1175Ala)
3g.38712441A>TCA352151406SCN10Ac.3809T>A (p.Val1270Glu)
c.3806T>A (p.Val1269Glu)
c.3833T>A (p.Val1278Glu)
c.3515T>A (p.Val1172Glu)
c.3818T>A (p.Val1273Glu)
c.3815T>A (p.Val1272Glu)
c.3524T>A (p.Val1175Glu)
3g.38712442C>ACA352151407SCN10Ac.3808G>T (p.Val1270Leu)
c.3805G>T (p.Val1269Leu)
c.3832G>T (p.Val1278Leu)
c.3514G>T (p.Val1172Leu)
c.3817G>T (p.Val1273Leu)
c.3814G>T (p.Val1272Leu)
c.3523G>T (p.Val1175Leu)
3g.38712442C>GCA352151408SCN10Ac.3808G>C (p.Val1270Leu)
c.3805G>C (p.Val1269Leu)
c.3832G>C (p.Val1278Leu)
c.3514G>C (p.Val1172Leu)
c.3817G>C (p.Val1273Leu)
c.3814G>C (p.Val1272Leu)
c.3523G>C (p.Val1175Leu)
3g.38712442C>TCA352151409SCN10Ac.3808G>A (p.Val1270Met)
c.3805G>A (p.Val1269Met)
c.3832G>A (p.Val1278Met)
c.3514G>A (p.Val1172Met)
c.3817G>A (p.Val1273Met)
c.3814G>A (p.Val1272Met)
c.3523G>A (p.Val1175Met)
 gnomAD v4
3g.38712443C>ACA433334134SCN10Ac.3807G>T (p.Val1269=)
c.3804G>T (p.Val1268=)
c.3831G>T (p.Val1277=)
c.3513G>T (p.Val1171=)
c.3816G>T (p.Val1272=)
c.3813G>T (p.Val1271=)
c.3522G>T (p.Val1174=)
 gnomAD v4
3g.38712443C>GCA433334135SCN10Ac.3807G>C (p.Val1269=)
c.3804G>C (p.Val1268=)
c.3831G>C (p.Val1277=)
c.3513G>C (p.Val1171=)
c.3816G>C (p.Val1272=)
c.3813G>C (p.Val1271=)
c.3522G>C (p.Val1174=)
3g.38712443C>TCA433334136SCN10Ac.3807G>A (p.Val1269=)
c.3804G>A (p.Val1268=)
c.3831G>A (p.Val1277=)
c.3513G>A (p.Val1171=)
c.3816G>A (p.Val1272=)
c.3813G>A (p.Val1271=)
c.3522G>A (p.Val1174=)

Number of alleles fetched