Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13870826C>A | CA359231546 | DNAH5 | c.3775G>T (p.Ala1259Ser) c.3730G>T (p.Ala1244Ser) n.3982G>T c.3883G>T (p.Ala1295Ser) c.2788G>T (p.Ala930Ser) c.2377G>T (p.Ala793Ser) n.3900G>T | |
5 | g.13870826C= | CA1528476339 | DNAH5 | c.3775G= (p.Ala1259=) c.3730G= (p.Ala1244=) n.3982G= c.3883G= (p.Ala1295=) c.2788G= (p.Ala930=) c.2377G= (p.Ala793=) n.3900G= | |
5 | g.13870826C>G | CA359231549 | DNAH5 | c.3775G>C (p.Ala1259Pro) c.3730G>C (p.Ala1244Pro) n.3982G>C c.3883G>C (p.Ala1295Pro) c.2788G>C (p.Ala930Pro) c.2377G>C (p.Ala793Pro) n.3900G>C | gnomAD v4 |
5 | g.13870826C>T | CA242431 | DNAH5 | c.3775G>A (p.Ala1259Thr) c.3730G>A (p.Ala1244Thr) n.3982G>A c.3883G>A (p.Ala1295Thr) c.2788G>A (p.Ala930Thr) c.2377G>A (p.Ala793Thr) n.3900G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870827del | CA2697547069 | DNAH5 | c.3774del (p.Ala1259ArgfsTer2) c.3729del (p.Ala1244ArgfsTer2) n.3981del c.3882del (p.Ala1295ArgfsTer2) c.2787del (p.Ala930ArgfsTer2) c.2376del (p.Ala793ArgfsTer2) n.3899del | ClinVar |
5 | g.13870827T>A | CA443535305 | DNAH5 | c.3774A>T (p.Ala1258=) c.3729A>T (p.Ala1243=) n.3981A>T c.3882A>T (p.Ala1294=) c.2787A>T (p.Ala929=) c.2376A>T (p.Ala792=) n.3899A>T | |
5 | g.13870827T>C | CA443535306 | DNAH5 | c.3774A>G (p.Ala1258=) c.3729A>G (p.Ala1243=) n.3981A>G c.3882A>G (p.Ala1294=) c.2787A>G (p.Ala929=) c.2376A>G (p.Ala792=) n.3899A>G | |
5 | g.13870827T>G | CA443535307 | DNAH5 | c.3774A>C (p.Ala1258=) c.3729A>C (p.Ala1243=) n.3981A>C c.3882A>C (p.Ala1294=) c.2787A>C (p.Ala929=) c.2376A>C (p.Ala792=) n.3899A>C | gnomAD v4 |
5 | g.13870828G>A | CA359231553 | DNAH5 | c.3773C>T (p.Ala1258Val) c.3728C>T (p.Ala1243Val) n.3980C>T c.3881C>T (p.Ala1294Val) c.2786C>T (p.Ala929Val) c.2375C>T (p.Ala792Val) n.3898C>T | |
5 | g.13870828G>C | CA359231555 | DNAH5 | c.3773C>G (p.Ala1258Gly) c.3728C>G (p.Ala1243Gly) n.3980C>G c.3881C>G (p.Ala1294Gly) c.2786C>G (p.Ala929Gly) c.2375C>G (p.Ala792Gly) n.3898C>G | |
5 | g.13870828G>T | CA359231557 | DNAH5 | c.3773C>A (p.Ala1258Glu) c.3728C>A (p.Ala1243Glu) n.3980C>A c.3881C>A (p.Ala1294Glu) c.2786C>A (p.Ala929Glu) c.2375C>A (p.Ala792Glu) n.3898C>A | |
5 | g.13870829C>A | CA359231559 | DNAH5 | c.3772G>T (p.Ala1258Ser) c.3727G>T (p.Ala1243Ser) n.3979G>T c.3880G>T (p.Ala1294Ser) c.2785G>T (p.Ala929Ser) c.2374G>T (p.Ala792Ser) n.3897G>T | gnomAD v4 |
5 | g.13870829C= | CA1528476341 | DNAH5 | c.3772G= (p.Ala1258=) c.3727G= (p.Ala1243=) n.3979G= c.3880G= (p.Ala1294=) c.2785G= (p.Ala929=) c.2374G= (p.Ala792=) n.3897G= | |
5 | g.13870829C>G | CA359231561 | DNAH5 | c.3772G>C (p.Ala1258Pro) c.3727G>C (p.Ala1243Pro) n.3979G>C c.3880G>C (p.Ala1294Pro) c.2785G>C (p.Ala929Pro) c.2374G>C (p.Ala792Pro) n.3897G>C | |
5 | g.13870829C>T | CA359231563 | DNAH5 | c.3772G>A (p.Ala1258Thr) c.3727G>A (p.Ala1243Thr) n.3979G>A c.3880G>A (p.Ala1294Thr) c.2785G>A (p.Ala929Thr) c.2374G>A (p.Ala792Thr) n.3897G>A | dbSNP gnomAD v4 |
5 | g.13870830C>A | CA359231564 | DNAH5 | c.3771G>T (p.Met1257Ile) c.3726G>T (p.Met1242Ile) n.3978G>T c.3879G>T (p.Met1293Ile) c.2784G>T (p.Met928Ile) c.2373G>T (p.Met791Ile) n.3896G>T | |
5 | g.13870830C>G | CA359231565 | DNAH5 | c.3771G>C (p.Met1257Ile) c.3726G>C (p.Met1242Ile) n.3978G>C c.3879G>C (p.Met1293Ile) c.2784G>C (p.Met928Ile) c.2373G>C (p.Met791Ile) n.3896G>C | |
5 | g.13870830C>T | CA359231566 | DNAH5 | c.3771G>A (p.Met1257Ile) c.3726G>A (p.Met1242Ile) n.3978G>A c.3879G>A (p.Met1293Ile) c.2784G>A (p.Met928Ile) c.2373G>A (p.Met791Ile) n.3896G>A | |
5 | g.13870831A>C | CA359231567 | DNAH5 | c.3770T>G (p.Met1257Arg) c.3725T>G (p.Met1242Arg) n.3977T>G c.3878T>G (p.Met1293Arg) c.2783T>G (p.Met928Arg) c.2372T>G (p.Met791Arg) n.3895T>G | |
5 | g.13870831A>G | CA359231569 | DNAH5 | c.3770T>C (p.Met1257Thr) c.3725T>C (p.Met1242Thr) n.3977T>C c.3878T>C (p.Met1293Thr) c.2783T>C (p.Met928Thr) c.2372T>C (p.Met791Thr) n.3895T>C | |
5 | g.13870831A>T | CA359231568 | DNAH5 | c.3770T>A (p.Met1257Lys) c.3725T>A (p.Met1242Lys) n.3977T>A c.3878T>A (p.Met1293Lys) c.2783T>A (p.Met928Lys) c.2372T>A (p.Met791Lys) n.3895T>A | |
5 | g.13870832T>A | CA359231570 | DNAH5 | c.3769A>T (p.Met1257Leu) c.3724A>T (p.Met1242Leu) n.3976A>T c.3877A>T (p.Met1293Leu) c.2782A>T (p.Met928Leu) c.2371A>T (p.Met791Leu) n.3894A>T | |
5 | g.13870832T>C | CA10619129 | DNAH5 | c.3769A>G (p.Met1257Val) c.3724A>G (p.Met1242Val) n.3976A>G c.3877A>G (p.Met1293Val) c.2782A>G (p.Met928Val) c.2371A>G (p.Met791Val) n.3894A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870832T>G | CA359231571 | DNAH5 | c.3769A>C (p.Met1257Leu) c.3724A>C (p.Met1242Leu) n.3976A>C c.3877A>C (p.Met1293Leu) c.2782A>C (p.Met928Leu) c.2371A>C (p.Met791Leu) n.3894A>C | |
5 | g.13870832T= | CA1528476343 | DNAH5 | c.3769A= (p.Met1257=) c.3724A= (p.Met1242=) n.3976A= c.3877A= (p.Met1293=) c.2782A= (p.Met928=) c.2371A= (p.Met791=) n.3894A= | |
5 | g.13870833T>A | CA443535308 | DNAH5 | c.3768A>T (p.Ala1256=) c.3723A>T (p.Ala1241=) n.3975A>T c.3876A>T (p.Ala1292=) c.2781A>T (p.Ala927=) c.2370A>T (p.Ala790=) n.3893A>T | |
5 | g.13870833T>C | CA443535309 | DNAH5 | c.3768A>G (p.Ala1256=) c.3723A>G (p.Ala1241=) n.3975A>G c.3876A>G (p.Ala1292=) c.2781A>G (p.Ala927=) c.2370A>G (p.Ala790=) n.3893A>G | |
5 | g.13870833T>G | CA443535310 | DNAH5 | c.3768A>C (p.Ala1256=) c.3723A>C (p.Ala1241=) n.3975A>C c.3876A>C (p.Ala1292=) c.2781A>C (p.Ala927=) c.2370A>C (p.Ala790=) n.3893A>C | |
5 | g.13870834G>A | CA3204179 | DNAH5 | c.3767C>T (p.Ala1256Val) c.3722C>T (p.Ala1241Val) n.3974C>T c.3875C>T (p.Ala1292Val) c.2780C>T (p.Ala927Val) c.2369C>T (p.Ala790Val) n.3892C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870834G>C | CA359231572 | DNAH5 | c.3767C>G (p.Ala1256Gly) c.3722C>G (p.Ala1241Gly) n.3974C>G c.3875C>G (p.Ala1292Gly) c.2780C>G (p.Ala927Gly) c.2369C>G (p.Ala790Gly) n.3892C>G | |
5 | g.13870834G= | CA1528476346 | DNAH5 | c.3767C= (p.Ala1256=) c.3722C= (p.Ala1241=) n.3974C= c.3875C= (p.Ala1292=) c.2780C= (p.Ala927=) c.2369C= (p.Ala790=) n.3892C= | |
5 | g.13870834G>T | CA359231573 | DNAH5 | c.3767C>A (p.Ala1256Glu) c.3722C>A (p.Ala1241Glu) n.3974C>A c.3875C>A (p.Ala1292Glu) c.2780C>A (p.Ala927Glu) c.2369C>A (p.Ala790Glu) n.3892C>A | |
5 | g.13870834_13870835insACTTT | CA2580072050 | DNAH5 | c.3766_3767insAAAGT (p.Ala1256GlufsTer7) c.3721_3722insAAAGT (p.Ala1241GlufsTer7) n.3973_3974insAAAGT c.3874_3875insAAAGT (p.Ala1292GlufsTer7) c.2779_2780insAAAGT (p.Ala927GlufsTer7) c.2368_2369insAAAGT (p.Ala790GlufsTer7) n.3891_3892insAAAGT | ClinVar |
5 | g.13870835C>A | CA359231578 | DNAH5 | c.3766G>T (p.Ala1256Ser) c.3721G>T (p.Ala1241Ser) n.3973G>T c.3874G>T (p.Ala1292Ser) c.2779G>T (p.Ala927Ser) c.2368G>T (p.Ala790Ser) n.3891G>T | |
5 | g.13870835C= | CA1528476348 | DNAH5 | c.3766G= (p.Ala1256=) c.3721G= (p.Ala1241=) n.3973G= c.3874G= (p.Ala1292=) c.2779G= (p.Ala927=) c.2368G= (p.Ala790=) n.3891G= | |
5 | g.13870835C>G | CA359231592 | DNAH5 | c.3766G>C (p.Ala1256Pro) c.3721G>C (p.Ala1241Pro) n.3973G>C c.3874G>C (p.Ala1292Pro) c.2779G>C (p.Ala927Pro) c.2368G>C (p.Ala790Pro) n.3891G>C | |
5 | g.13870835C>T | CA113981312 | DNAH5 | c.3766G>A (p.Ala1256Thr) c.3721G>A (p.Ala1241Thr) n.3973G>A c.3874G>A (p.Ala1292Thr) c.2779G>A (p.Ala927Thr) c.2368G>A (p.Ala790Thr) n.3891G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870836A>C | CA359231607 | DNAH5 | c.3765T>G (p.Ile1255Met) c.3720T>G (p.Ile1240Met) n.3972T>G c.3873T>G (p.Ile1291Met) c.2778T>G (p.Ile926Met) c.2367T>G (p.Ile789Met) n.3890T>G | |
5 | g.13870836A>G | CA443535312 | DNAH5 | c.3765T>C (p.Ile1255=) c.3720T>C (p.Ile1240=) n.3972T>C c.3873T>C (p.Ile1291=) c.2778T>C (p.Ile926=) c.2367T>C (p.Ile789=) n.3890T>C | |
5 | g.13870836A>T | CA443535311 | DNAH5 | c.3765T>A (p.Ile1255=) c.3720T>A (p.Ile1240=) n.3972T>A c.3873T>A (p.Ile1291=) c.2778T>A (p.Ile926=) c.2367T>A (p.Ile789=) n.3890T>A | |
5 | g.13870837A>C | CA359231620 | DNAH5 | c.3764T>G (p.Ile1255Ser) c.3719T>G (p.Ile1240Ser) n.3971T>G c.3872T>G (p.Ile1291Ser) c.2777T>G (p.Ile926Ser) c.2366T>G (p.Ile789Ser) n.3889T>G | |
5 | g.13870837A>G | CA359231613 | DNAH5 | c.3764T>C (p.Ile1255Thr) c.3719T>C (p.Ile1240Thr) n.3971T>C c.3872T>C (p.Ile1291Thr) c.2777T>C (p.Ile926Thr) c.2366T>C (p.Ile789Thr) n.3889T>C | |
5 | g.13870837A>T | CA359231610 | DNAH5 | c.3764T>A (p.Ile1255Asn) c.3719T>A (p.Ile1240Asn) n.3971T>A c.3872T>A (p.Ile1291Asn) c.2777T>A (p.Ile926Asn) c.2366T>A (p.Ile789Asn) n.3889T>A | |
5 | g.13870838del | CA2578270844 | DNAH5 | c.3763del (p.Ile1255LeufsTer6) c.3718del (p.Ile1240LeufsTer6) n.3970del c.3871del (p.Ile1291LeufsTer6) c.2776del (p.Ile926LeufsTer6) c.2365del (p.Ile789LeufsTer6) n.3888del | |
5 | g.13870838T>A | CA359231625 | DNAH5 | c.3763A>T (p.Ile1255Phe) c.3718A>T (p.Ile1240Phe) n.3970A>T c.3871A>T (p.Ile1291Phe) c.2776A>T (p.Ile926Phe) c.2365A>T (p.Ile789Phe) n.3888A>T | |
5 | g.13870838T>C | CA359231622 | DNAH5 | c.3763A>G (p.Ile1255Val) c.3718A>G (p.Ile1240Val) n.3970A>G c.3871A>G (p.Ile1291Val) c.2776A>G (p.Ile926Val) c.2365A>G (p.Ile789Val) n.3888A>G | |
5 | g.13870838T>G | CA359231624 | DNAH5 | c.3763A>C (p.Ile1255Leu) c.3718A>C (p.Ile1240Leu) n.3970A>C c.3871A>C (p.Ile1291Leu) c.2776A>C (p.Ile926Leu) c.2365A>C (p.Ile789Leu) n.3888A>C | |
5 | g.13870839C>A | CA443535313 | DNAH5 | c.3762G>T (p.Arg1254=) c.3717G>T (p.Arg1239=) n.3969G>T c.3870G>T (p.Arg1290=) c.2775G>T (p.Arg925=) c.2364G>T (p.Arg788=) n.3887G>T | gnomAD v4 |
5 | g.13870839C>G | CA443535314 | DNAH5 | c.3762G>C (p.Arg1254=) c.3717G>C (p.Arg1239=) n.3969G>C c.3870G>C (p.Arg1290=) c.2775G>C (p.Arg925=) c.2364G>C (p.Arg788=) n.3887G>C | |
5 | g.13870839C>T | CA443535315 | DNAH5 | c.3762G>A (p.Arg1254=) c.3717G>A (p.Arg1239=) n.3969G>A c.3870G>A (p.Arg1290=) c.2775G>A (p.Arg925=) c.2364G>A (p.Arg788=) n.3887G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870840C>A | CA359231627 | DNAH5 | c.3761G>T (p.Arg1254Leu) c.3716G>T (p.Arg1239Leu) n.3968G>T c.3869G>T (p.Arg1290Leu) c.2774G>T (p.Arg925Leu) c.2363G>T (p.Arg788Leu) n.3886G>T | |
5 | g.13870840C= | CA1528476350 | DNAH5 | c.3761G= (p.Arg1254=) c.3716G= (p.Arg1239=) n.3968G= c.3869G= (p.Arg1290=) c.2774G= (p.Arg925=) c.2363G= (p.Arg788=) n.3886G= | |
5 | g.13870840C>G | CA359231629 | DNAH5 | c.3761G>C (p.Arg1254Pro) c.3716G>C (p.Arg1239Pro) n.3968G>C c.3869G>C (p.Arg1290Pro) c.2774G>C (p.Arg925Pro) c.2363G>C (p.Arg788Pro) n.3886G>C | |
5 | g.13870840C>T | CA3204180 | DNAH5 | c.3761G>A (p.Arg1254Gln) c.3716G>A (p.Arg1239Gln) n.3968G>A c.3869G>A (p.Arg1290Gln) c.2774G>A (p.Arg925Gln) c.2363G>A (p.Arg788Gln) n.3886G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13870841G>A | CA3204181 | DNAH5 | c.3760C>T (p.Arg1254Trp) c.3715C>T (p.Arg1239Trp) n.3967C>T c.3868C>T (p.Arg1290Trp) c.2773C>T (p.Arg925Trp) c.2362C>T (p.Arg788Trp) n.3885C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870841G>C | CA359231638 | DNAH5 | c.3760C>G (p.Arg1254Gly) c.3715C>G (p.Arg1239Gly) n.3967C>G c.3868C>G (p.Arg1290Gly) c.2773C>G (p.Arg925Gly) c.2362C>G (p.Arg788Gly) n.3885C>G | |
5 | g.13870841G= | CA1528476351 | DNAH5 | c.3760C= (p.Arg1254=) c.3715C= (p.Arg1239=) n.3967C= c.3868C= (p.Arg1290=) c.2773C= (p.Arg925=) c.2362C= (p.Arg788=) n.3885C= | |
5 | g.13870841G>T | CA3204182 | DNAH5 | c.3760C>A (p.Arg1254=) c.3715C>A (p.Arg1239=) n.3967C>A c.3868C>A (p.Arg1290=) c.2773C>A (p.Arg925=) c.2362C>A (p.Arg788=) n.3885C>A | dbSNP ExAC |
5 | g.13870842A>C | CA359231643 | DNAH5 | c.3759T>G (p.Ile1253Met) c.3714T>G (p.Ile1238Met) n.3966T>G c.3867T>G (p.Ile1289Met) c.2772T>G (p.Ile924Met) c.2361T>G (p.Ile787Met) n.3884T>G | |
5 | g.13870842A>G | CA443535316 | DNAH5 | c.3759T>C (p.Ile1253=) c.3714T>C (p.Ile1238=) n.3966T>C c.3867T>C (p.Ile1289=) c.2772T>C (p.Ile924=) c.2361T>C (p.Ile787=) n.3884T>C | COSMIC |
5 | g.13870842A>T | CA443535317 | DNAH5 | c.3759T>A (p.Ile1253=) c.3714T>A (p.Ile1238=) n.3966T>A c.3867T>A (p.Ile1289=) c.2772T>A (p.Ile924=) c.2361T>A (p.Ile787=) n.3884T>A | |
5 | g.13870843A= | CA1528476353 | DNAH5 | c.3758T= (p.Ile1253=) c.3713T= (p.Ile1238=) n.3965T= c.3866T= (p.Ile1289=) c.2771T= (p.Ile924=) c.2360T= (p.Ile787=) n.3883T= | |
5 | g.13870843A>C | CA359231645 | DNAH5 | c.3758T>G (p.Ile1253Ser) c.3713T>G (p.Ile1238Ser) n.3965T>G c.3866T>G (p.Ile1289Ser) c.2771T>G (p.Ile924Ser) c.2360T>G (p.Ile787Ser) n.3883T>G | |
5 | g.13870843A>G | CA3204183 | DNAH5 | c.3758T>C (p.Ile1253Thr) c.3713T>C (p.Ile1238Thr) n.3965T>C c.3866T>C (p.Ile1289Thr) c.2771T>C (p.Ile924Thr) c.2360T>C (p.Ile787Thr) n.3883T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870843A>T | CA359231651 | DNAH5 | c.3758T>A (p.Ile1253Asn) c.3713T>A (p.Ile1238Asn) n.3965T>A c.3866T>A (p.Ile1289Asn) c.2771T>A (p.Ile924Asn) c.2360T>A (p.Ile787Asn) n.3883T>A | gnomAD v4 |
5 | g.13870844T>A | CA359231659 | DNAH5 | c.3757A>T (p.Ile1253Phe) c.3712A>T (p.Ile1238Phe) n.3964A>T c.3865A>T (p.Ile1289Phe) c.2770A>T (p.Ile924Phe) c.2359A>T (p.Ile787Phe) n.3882A>T | |
5 | g.13870844T>C | CA359231656 | DNAH5 | c.3757A>G (p.Ile1253Val) c.3712A>G (p.Ile1238Val) n.3964A>G c.3865A>G (p.Ile1289Val) c.2770A>G (p.Ile924Val) c.2359A>G (p.Ile787Val) n.3882A>G | dbSNP gnomAD v4 |
5 | g.13870844T>G | CA359231654 | DNAH5 | c.3757A>C (p.Ile1253Leu) c.3712A>C (p.Ile1238Leu) n.3964A>C c.3865A>C (p.Ile1289Leu) c.2770A>C (p.Ile924Leu) c.2359A>C (p.Ile787Leu) n.3882A>C | |
5 | g.13870844T= | CA1528476357 | DNAH5 | c.3757A= (p.Ile1253=) c.3712A= (p.Ile1238=) n.3964A= c.3865A= (p.Ile1289=) c.2770A= (p.Ile924=) c.2359A= (p.Ile787=) n.3882A= | |
5 | g.13870845A>C | CA359231660 | DNAH5 | c.3756T>G (p.Asp1252Glu) c.3711T>G (p.Asp1237Glu) n.3963T>G c.3864T>G (p.Asp1288Glu) c.2769T>G (p.Asp923Glu) c.2358T>G (p.Asp786Glu) n.3881T>G | |
5 | g.13870845A>G | CA443535318 | DNAH5 | c.3756T>C (p.Asp1252=) c.3711T>C (p.Asp1237=) n.3963T>C c.3864T>C (p.Asp1288=) c.2769T>C (p.Asp923=) c.2358T>C (p.Asp786=) n.3881T>C | |
5 | g.13870845A>T | CA359231661 | DNAH5 | c.3756T>A (p.Asp1252Glu) c.3711T>A (p.Asp1237Glu) n.3963T>A c.3864T>A (p.Asp1288Glu) c.2769T>A (p.Asp923Glu) c.2358T>A (p.Asp786Glu) n.3881T>A | |
5 | g.13870846T>A | CA359231662 | DNAH5 | c.3755A>T (p.Asp1252Val) c.3710A>T (p.Asp1237Val) n.3962A>T c.3863A>T (p.Asp1288Val) c.2768A>T (p.Asp923Val) c.2357A>T (p.Asp786Val) n.3880A>T | |
5 | g.13870846T>C | CA359231663 | DNAH5 | c.3755A>G (p.Asp1252Gly) c.3710A>G (p.Asp1237Gly) n.3962A>G c.3863A>G (p.Asp1288Gly) c.2768A>G (p.Asp923Gly) c.2357A>G (p.Asp786Gly) n.3880A>G | COSMIC |
5 | g.13870846T>G | CA3204184 | DNAH5 | c.3755A>C (p.Asp1252Ala) c.3710A>C (p.Asp1237Ala) n.3962A>C c.3863A>C (p.Asp1288Ala) c.2768A>C (p.Asp923Ala) c.2357A>C (p.Asp786Ala) n.3880A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870846T= | CA1528476360 | DNAH5 | c.3755A= (p.Asp1252=) c.3710A= (p.Asp1237=) n.3962A= c.3863A= (p.Asp1288=) c.2768A= (p.Asp923=) c.2357A= (p.Asp786=) n.3880A= | |
5 | g.13870847C>A | CA359231664 | DNAH5 | c.3754G>T (p.Asp1252Tyr) c.3709G>T (p.Asp1237Tyr) n.3961G>T c.3862G>T (p.Asp1288Tyr) c.2767G>T (p.Asp923Tyr) c.2356G>T (p.Asp786Tyr) n.3879G>T | |
5 | g.13870847C>G | CA359231665 | DNAH5 | c.3754G>C (p.Asp1252His) c.3709G>C (p.Asp1237His) n.3961G>C c.3862G>C (p.Asp1288His) c.2767G>C (p.Asp923His) c.2356G>C (p.Asp786His) n.3879G>C | |
5 | g.13870847C>T | CA359231667 | DNAH5 | c.3754G>A (p.Asp1252Asn) c.3709G>A (p.Asp1237Asn) n.3961G>A c.3862G>A (p.Asp1288Asn) c.2767G>A (p.Asp923Asn) c.2356G>A (p.Asp786Asn) n.3879G>A | |
5 | g.13870848A= | CA1528476363 | DNAH5 | c.3753T= (p.Asp1251=) c.3708T= (p.Asp1236=) n.3960T= c.3861T= (p.Asp1287=) c.2766T= (p.Asp922=) c.2355T= (p.Asp785=) n.3878T= | |
5 | g.13870848A>C | CA359231668 | DNAH5 | c.3753T>G (p.Asp1251Glu) c.3708T>G (p.Asp1236Glu) n.3960T>G c.3861T>G (p.Asp1287Glu) c.2766T>G (p.Asp922Glu) c.2355T>G (p.Asp785Glu) n.3878T>G | |
5 | g.13870848A>G | CA16611818 | DNAH5 | c.3753T>C (p.Asp1251=) c.3708T>C (p.Asp1236=) n.3960T>C c.3861T>C (p.Asp1287=) c.2766T>C (p.Asp922=) c.2355T>C (p.Asp785=) n.3878T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13870848A>T | CA359231670 | DNAH5 | c.3753T>A (p.Asp1251Glu) c.3708T>A (p.Asp1236Glu) n.3960T>A c.3861T>A (p.Asp1287Glu) c.2766T>A (p.Asp922Glu) c.2355T>A (p.Asp785Glu) n.3878T>A | |
5 | g.13870849T>A | CA359231678 | DNAH5 | c.3752A>T (p.Asp1251Val) c.3707A>T (p.Asp1236Val) n.3959A>T c.3860A>T (p.Asp1287Val) c.2765A>T (p.Asp922Val) c.2354A>T (p.Asp785Val) n.3877A>T | |
5 | g.13870849T>C | CA359231681 | DNAH5 | c.3752A>G (p.Asp1251Gly) c.3707A>G (p.Asp1236Gly) n.3959A>G c.3860A>G (p.Asp1287Gly) c.2765A>G (p.Asp922Gly) c.2354A>G (p.Asp785Gly) n.3877A>G | dbSNP |
5 | g.13870849T>G | CA359231686 | DNAH5 | c.3752A>C (p.Asp1251Ala) c.3707A>C (p.Asp1236Ala) n.3959A>C c.3860A>C (p.Asp1287Ala) c.2765A>C (p.Asp922Ala) c.2354A>C (p.Asp785Ala) n.3877A>C | |
5 | g.13870849T= | CA1528476365 | DNAH5 | c.3752A= (p.Asp1251=) c.3707A= (p.Asp1236=) n.3959A= c.3860A= (p.Asp1287=) c.2765A= (p.Asp922=) c.2354A= (p.Asp785=) n.3877A= | |
5 | g.13870850C>A | CA359231691 | DNAH5 | c.3751G>T (p.Asp1251Tyr) c.3706G>T (p.Asp1236Tyr) n.3958G>T c.3859G>T (p.Asp1287Tyr) c.2764G>T (p.Asp922Tyr) c.2353G>T (p.Asp785Tyr) n.3876G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870850C= | CA1528476366 | DNAH5 | c.3751G= (p.Asp1251=) c.3706G= (p.Asp1236=) n.3958G= c.3859G= (p.Asp1287=) c.2764G= (p.Asp922=) c.2353G= (p.Asp785=) n.3876G= | |
5 | g.13870850C>G | CA359231693 | DNAH5 | c.3751G>C (p.Asp1251His) c.3706G>C (p.Asp1236His) n.3958G>C c.3859G>C (p.Asp1287His) c.2764G>C (p.Asp922His) c.2353G>C (p.Asp785His) n.3876G>C | gnomAD v4 |
5 | g.13870850C>T | CA359231689 | DNAH5 | c.3751G>A (p.Asp1251Asn) c.3706G>A (p.Asp1236Asn) n.3958G>A c.3859G>A (p.Asp1287Asn) c.2764G>A (p.Asp922Asn) c.2353G>A (p.Asp785Asn) n.3876G>A | |
5 | g.13870851T>A | CA3204185 | DNAH5 | c.3750A>T (p.Leu1250=) c.3705A>T (p.Leu1235=) n.3957A>T c.3858A>T (p.Leu1286=) c.2763A>T (p.Leu921=) c.2352A>T (p.Leu784=) n.3875A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870851T>C | CA3204186 | DNAH5 | c.3750A>G (p.Leu1250=) c.3705A>G (p.Leu1235=) n.3957A>G c.3858A>G (p.Leu1286=) c.2763A>G (p.Leu921=) c.2352A>G (p.Leu784=) n.3875A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870851T>G | CA443535319 | DNAH5 | c.3750A>C (p.Leu1250=) c.3705A>C (p.Leu1235=) n.3957A>C c.3858A>C (p.Leu1286=) c.2763A>C (p.Leu921=) c.2352A>C (p.Leu784=) n.3875A>C | |
5 | g.13870851T= | CA1528476368 | DNAH5 | c.3750A= (p.Leu1250=) c.3705A= (p.Leu1235=) n.3957A= c.3858A= (p.Leu1286=) c.2763A= (p.Leu921=) c.2352A= (p.Leu784=) n.3875A= | |
5 | g.13870852A>C | CA359231701 | DNAH5 | c.3749T>G (p.Leu1250Arg) c.3704T>G (p.Leu1235Arg) n.3956T>G c.3857T>G (p.Leu1286Arg) c.2762T>G (p.Leu921Arg) c.2351T>G (p.Leu784Arg) n.3874T>G | |
5 | g.13870852A>G | CA359231702 | DNAH5 | c.3749T>C (p.Leu1250Pro) c.3704T>C (p.Leu1235Pro) n.3956T>C c.3857T>C (p.Leu1286Pro) c.2762T>C (p.Leu921Pro) c.2351T>C (p.Leu784Pro) n.3874T>C | |
5 | g.13870852A>T | CA359231703 | DNAH5 | c.3749T>A (p.Leu1250Gln) c.3704T>A (p.Leu1235Gln) n.3956T>A c.3857T>A (p.Leu1286Gln) c.2762T>A (p.Leu921Gln) c.2351T>A (p.Leu784Gln) n.3874T>A | |
5 | g.13870853G>A | CA443535320 | DNAH5 | c.3748C>T (p.Leu1250=) c.3703C>T (p.Leu1235=) n.3955C>T c.3856C>T (p.Leu1286=) c.2761C>T (p.Leu921=) c.2350C>T (p.Leu784=) n.3873C>T | |
5 | g.13870853G>C | CA113981330 | DNAH5 | c.3748C>G (p.Leu1250Val) c.3703C>G (p.Leu1235Val) n.3955C>G c.3856C>G (p.Leu1286Val) c.2761C>G (p.Leu921Val) c.2350C>G (p.Leu784Val) n.3873C>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870853G= | CA1528476370 | DNAH5 | c.3748C= (p.Leu1250=) c.3703C= (p.Leu1235=) n.3955C= c.3856C= (p.Leu1286=) c.2761C= (p.Leu921=) c.2350C= (p.Leu784=) n.3873C= | |
5 | g.13870853G>T | CA359231705 | DNAH5 | c.3748C>A (p.Leu1250Ile) c.3703C>A (p.Leu1235Ile) n.3955C>A c.3856C>A (p.Leu1286Ile) c.2761C>A (p.Leu921Ile) c.2350C>A (p.Leu784Ile) n.3873C>A | gnomAD v4 |
5 | g.13870854del | CA2673276438 | DNAH5 | c.3748del (p.Leu1250Ter) c.3703del (p.Leu1235Ter) n.3955del c.3856del (p.Leu1286Ter) c.2761del (p.Leu921Ter) c.2350del (p.Leu784Ter) n.3873del | gnomAD v4 |
5 | g.13870854G>A | CA443535321 | DNAH5 | c.3747C>T (p.Asp1249=) c.3702C>T (p.Asp1234=) n.3954C>T c.3855C>T (p.Asp1285=) c.2760C>T (p.Asp920=) c.2349C>T (p.Asp783=) n.3872C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870854G>C | CA359231707 | DNAH5 | c.3747C>G (p.Asp1249Glu) c.3702C>G (p.Asp1234Glu) n.3954C>G c.3855C>G (p.Asp1285Glu) c.2760C>G (p.Asp920Glu) c.2349C>G (p.Asp783Glu) n.3872C>G | |
5 | g.13870854G= | CA1528476371 | DNAH5 | c.3747C= (p.Asp1249=) c.3702C= (p.Asp1234=) n.3954C= c.3855C= (p.Asp1285=) c.2760C= (p.Asp920=) c.2349C= (p.Asp783=) n.3872C= | |
5 | g.13870854G>T | CA359231714 | DNAH5 | c.3747C>A (p.Asp1249Glu) c.3702C>A (p.Asp1234Glu) n.3954C>A c.3855C>A (p.Asp1285Glu) c.2760C>A (p.Asp920Glu) c.2349C>A (p.Asp783Glu) n.3872C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870855T>A | CA359231724 | DNAH5 | c.3746A>T (p.Asp1249Val) c.3701A>T (p.Asp1234Val) n.3953A>T c.3854A>T (p.Asp1285Val) c.2759A>T (p.Asp920Val) c.2348A>T (p.Asp783Val) n.3871A>T | |
5 | g.13870855T>C | CA359231728 | DNAH5 | c.3746A>G (p.Asp1249Gly) c.3701A>G (p.Asp1234Gly) n.3953A>G c.3854A>G (p.Asp1285Gly) c.2759A>G (p.Asp920Gly) c.2348A>G (p.Asp783Gly) n.3871A>G | |
5 | g.13870855T>G | CA359231732 | DNAH5 | c.3746A>C (p.Asp1249Ala) c.3701A>C (p.Asp1234Ala) n.3953A>C c.3854A>C (p.Asp1285Ala) c.2759A>C (p.Asp920Ala) c.2348A>C (p.Asp783Ala) n.3871A>C | |
5 | g.13870856C>A | CA359231734 | DNAH5 | c.3745G>T (p.Asp1249Tyr) c.3700G>T (p.Asp1234Tyr) n.3952G>T c.3853G>T (p.Asp1285Tyr) c.2758G>T (p.Asp920Tyr) c.2347G>T (p.Asp783Tyr) n.3870G>T | |
5 | g.13870856C= | CA1528476374 | DNAH5 | c.3745G= (p.Asp1249=) c.3700G= (p.Asp1234=) n.3952G= c.3853G= (p.Asp1285=) c.2758G= (p.Asp920=) c.2347G= (p.Asp783=) n.3870G= | |
5 | g.13870856C>G | CA359231735 | DNAH5 | c.3745G>C (p.Asp1249His) c.3700G>C (p.Asp1234His) n.3952G>C c.3853G>C (p.Asp1285His) c.2758G>C (p.Asp920His) c.2347G>C (p.Asp783His) n.3870G>C | |
5 | g.13870856C>T | CA3204187 | DNAH5 | c.3745G>A (p.Asp1249Asn) c.3700G>A (p.Asp1234Asn) n.3952G>A c.3853G>A (p.Asp1285Asn) c.2758G>A (p.Asp920Asn) c.2347G>A (p.Asp783Asn) n.3870G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870857C>A | CA359231736 | DNAH5 | c.3744G>T (p.Lys1248Asn) c.3699G>T (p.Lys1233Asn) n.3951G>T c.3852G>T (p.Lys1284Asn) c.2757G>T (p.Lys919Asn) c.2346G>T (p.Lys782Asn) n.3869G>T | |
5 | g.13870857C= | CA1528476375 | DNAH5 | c.3744G= (p.Lys1248=) c.3699G= (p.Lys1233=) n.3951G= c.3852G= (p.Lys1284=) c.2757G= (p.Lys919=) c.2346G= (p.Lys782=) n.3869G= | |
5 | g.13870857C>G | CA359231738 | DNAH5 | c.3744G>C (p.Lys1248Asn) c.3699G>C (p.Lys1233Asn) n.3951G>C c.3852G>C (p.Lys1284Asn) c.2757G>C (p.Lys919Asn) c.2346G>C (p.Lys782Asn) n.3869G>C | |
5 | g.13870857C>T | CA443535322 | DNAH5 | c.3744G>A (p.Lys1248=) c.3699G>A (p.Lys1233=) n.3951G>A c.3852G>A (p.Lys1284=) c.2757G>A (p.Lys919=) c.2346G>A (p.Lys782=) n.3869G>A | dbSNP gnomAD v4 COSMIC |
5 | g.13870858T>A | CA359231739 | DNAH5 | c.3743A>T (p.Lys1248Met) c.3698A>T (p.Lys1233Met) n.3950A>T c.3851A>T (p.Lys1284Met) c.2756A>T (p.Lys919Met) c.2345A>T (p.Lys782Met) n.3868A>T | |
5 | g.13870858T>C | CA359231741 | DNAH5 | c.3743A>G (p.Lys1248Arg) c.3698A>G (p.Lys1233Arg) n.3950A>G c.3851A>G (p.Lys1284Arg) c.2756A>G (p.Lys919Arg) c.2345A>G (p.Lys782Arg) n.3868A>G | |
5 | g.13870858T>G | CA359231742 | DNAH5 | c.3743A>C (p.Lys1248Thr) c.3698A>C (p.Lys1233Thr) n.3950A>C c.3851A>C (p.Lys1284Thr) c.2756A>C (p.Lys919Thr) c.2345A>C (p.Lys782Thr) n.3868A>C | |
5 | g.13870859T>A | CA359231744 | DNAH5 | c.3742A>T (p.Lys1248Ter) c.3697A>T (p.Lys1233Ter) n.3949A>T c.3850A>T (p.Lys1284Ter) c.2755A>T (p.Lys919Ter) c.2344A>T (p.Lys782Ter) n.3867A>T | |
5 | g.13870859T>C | CA3204188 | DNAH5 | c.3742A>G (p.Lys1248Glu) c.3697A>G (p.Lys1233Glu) n.3949A>G c.3850A>G (p.Lys1284Glu) c.2755A>G (p.Lys919Glu) c.2344A>G (p.Lys782Glu) n.3867A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870859T>G | CA359231750 | DNAH5 | c.3742A>C (p.Lys1248Gln) c.3697A>C (p.Lys1233Gln) n.3949A>C c.3850A>C (p.Lys1284Gln) c.2755A>C (p.Lys919Gln) c.2344A>C (p.Lys782Gln) n.3867A>C | |
5 | g.13870859T= | CA1528476377 | DNAH5 | c.3742A= (p.Lys1248=) c.3697A= (p.Lys1233=) n.3949A= c.3850A= (p.Lys1284=) c.2755A= (p.Lys919=) c.2344A= (p.Lys782=) n.3867A= | |
5 | g.13870860A>C | CA359231752 | DNAH5 | c.3741T>G (p.Ile1247Met) c.3696T>G (p.Ile1232Met) n.3948T>G c.3849T>G (p.Ile1283Met) c.2754T>G (p.Ile918Met) c.2343T>G (p.Ile781Met) n.3866T>G | |
5 | g.13870860A>G | CA443535324 | DNAH5 | c.3741T>C (p.Ile1247=) c.3696T>C (p.Ile1232=) n.3948T>C c.3849T>C (p.Ile1283=) c.2754T>C (p.Ile918=) c.2343T>C (p.Ile781=) n.3866T>C | |
5 | g.13870860A>T | CA443535323 | DNAH5 | c.3741T>A (p.Ile1247=) c.3696T>A (p.Ile1232=) n.3948T>A c.3849T>A (p.Ile1283=) c.2754T>A (p.Ile918=) c.2343T>A (p.Ile781=) n.3866T>A | |
5 | g.13870861A>C | CA359231768 | DNAH5 | c.3740T>G (p.Ile1247Ser) c.3695T>G (p.Ile1232Ser) n.3947T>G c.3848T>G (p.Ile1283Ser) c.2753T>G (p.Ile918Ser) c.2342T>G (p.Ile781Ser) n.3865T>G | |
5 | g.13870861A>G | CA359231770 | DNAH5 | c.3740T>C (p.Ile1247Thr) c.3695T>C (p.Ile1232Thr) n.3947T>C c.3848T>C (p.Ile1283Thr) c.2753T>C (p.Ile918Thr) c.2342T>C (p.Ile781Thr) n.3865T>C | |
5 | g.13870861A>T | CA359231771 | DNAH5 | c.3740T>A (p.Ile1247Asn) c.3695T>A (p.Ile1232Asn) n.3947T>A c.3848T>A (p.Ile1283Asn) c.2753T>A (p.Ile918Asn) c.2342T>A (p.Ile781Asn) n.3865T>A | |
5 | g.13870862T>A | CA359231774 | DNAH5 | c.3739A>T (p.Ile1247Phe) c.3694A>T (p.Ile1232Phe) n.3946A>T c.3847A>T (p.Ile1283Phe) c.2752A>T (p.Ile918Phe) c.2341A>T (p.Ile781Phe) n.3864A>T | |
5 | g.13870862T>C | CA359231773 | DNAH5 | c.3739A>G (p.Ile1247Val) c.3694A>G (p.Ile1232Val) n.3946A>G c.3847A>G (p.Ile1283Val) c.2752A>G (p.Ile918Val) c.2341A>G (p.Ile781Val) n.3864A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870862T>G | CA359231772 | DNAH5 | c.3739A>C (p.Ile1247Leu) c.3694A>C (p.Ile1232Leu) n.3946A>C c.3847A>C (p.Ile1283Leu) c.2752A>C (p.Ile918Leu) c.2341A>C (p.Ile781Leu) n.3864A>C | |
5 | g.13870862T= | CA1528476379 | DNAH5 | c.3739A= (p.Ile1247=) c.3694A= (p.Ile1232=) n.3946A= c.3847A= (p.Ile1283=) c.2752A= (p.Ile918=) c.2341A= (p.Ile781=) n.3864A= | |
5 | g.13870863T>A | CA443535325 | DNAH5 | c.3738A>T (p.Pro1246=) c.3693A>T (p.Pro1231=) n.3945A>T c.3846A>T (p.Pro1282=) c.2751A>T (p.Pro917=) c.2340A>T (p.Pro780=) n.3863A>T | |
5 | g.13870863T>C | CA443535327 | DNAH5 | c.3738A>G (p.Pro1246=) c.3693A>G (p.Pro1231=) n.3945A>G c.3846A>G (p.Pro1282=) c.2751A>G (p.Pro917=) c.2340A>G (p.Pro780=) n.3863A>G | dbSNP |
5 | g.13870863T>G | CA443535326 | DNAH5 | c.3738A>C (p.Pro1246=) c.3693A>C (p.Pro1231=) n.3945A>C c.3846A>C (p.Pro1282=) c.2751A>C (p.Pro917=) c.2340A>C (p.Pro780=) n.3863A>C | |
5 | g.13870863T= | CA1528476381 | DNAH5 | c.3738A= (p.Pro1246=) c.3693A= (p.Pro1231=) n.3945A= c.3846A= (p.Pro1282=) c.2751A= (p.Pro917=) c.2340A= (p.Pro780=) n.3863A= | |
5 | g.13870864G>A | CA359231775 | DNAH5 | c.3737C>T (p.Pro1246Leu) c.3692C>T (p.Pro1231Leu) n.3944C>T c.3845C>T (p.Pro1282Leu) c.2750C>T (p.Pro917Leu) c.2339C>T (p.Pro780Leu) n.3862C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13870864G>C | CA359231776 | DNAH5 | c.3737C>G (p.Pro1246Arg) c.3692C>G (p.Pro1231Arg) n.3944C>G c.3845C>G (p.Pro1282Arg) c.2750C>G (p.Pro917Arg) c.2339C>G (p.Pro780Arg) n.3862C>G | |
5 | g.13870864G= | CA1528476383 | DNAH5 | c.3737C= (p.Pro1246=) c.3692C= (p.Pro1231=) n.3944C= c.3845C= (p.Pro1282=) c.2750C= (p.Pro917=) c.2339C= (p.Pro780=) n.3862C= | |
5 | g.13870864G>T | CA359231779 | DNAH5 | c.3737C>A (p.Pro1246Gln) c.3692C>A (p.Pro1231Gln) n.3944C>A c.3845C>A (p.Pro1282Gln) c.2750C>A (p.Pro917Gln) c.2339C>A (p.Pro780Gln) n.3862C>A | |
5 | g.13870865G>A | CA359231794 | DNAH5 | c.3736C>T (p.Pro1246Ser) c.3691C>T (p.Pro1231Ser) n.3943C>T c.3844C>T (p.Pro1282Ser) c.2749C>T (p.Pro917Ser) c.2338C>T (p.Pro780Ser) n.3861C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870865G>C | CA359231796 | DNAH5 | c.3736C>G (p.Pro1246Ala) c.3691C>G (p.Pro1231Ala) n.3943C>G c.3844C>G (p.Pro1282Ala) c.2749C>G (p.Pro917Ala) c.2338C>G (p.Pro780Ala) n.3861C>G | gnomAD v4 |
5 | g.13870865G= | CA1528476385 | DNAH5 | c.3736C= (p.Pro1246=) c.3691C= (p.Pro1231=) n.3943C= c.3844C= (p.Pro1282=) c.2749C= (p.Pro917=) c.2338C= (p.Pro780=) n.3861C= | |
5 | g.13870865G>T | CA359231797 | DNAH5 | c.3736C>A (p.Pro1246Thr) c.3691C>A (p.Pro1231Thr) n.3943C>A c.3844C>A (p.Pro1282Thr) c.2749C>A (p.Pro917Thr) c.2338C>A (p.Pro780Thr) n.3861C>A | |
5 | g.13870866A>C | CA443535328 | DNAH5 | c.3735T>G (p.Arg1245=) c.3690T>G (p.Arg1230=) n.3942T>G c.3843T>G (p.Arg1281=) c.2748T>G (p.Arg916=) c.2337T>G (p.Arg779=) n.3860T>G | |
5 | g.13870866A>G | CA443535329 | DNAH5 | c.3735T>C (p.Arg1245=) c.3690T>C (p.Arg1230=) n.3942T>C c.3843T>C (p.Arg1281=) c.2748T>C (p.Arg916=) c.2337T>C (p.Arg779=) n.3860T>C | |
5 | g.13870866A>T | CA443535330 | DNAH5 | c.3735T>A (p.Arg1245=) c.3690T>A (p.Arg1230=) n.3942T>A c.3843T>A (p.Arg1281=) c.2748T>A (p.Arg916=) c.2337T>A (p.Arg779=) n.3860T>A | |
5 | g.13870867C>A | CA359231801 | DNAH5 | c.3734G>T (p.Arg1245Leu) c.3689G>T (p.Arg1230Leu) n.3941G>T c.3842G>T (p.Arg1281Leu) c.2747G>T (p.Arg916Leu) c.2336G>T (p.Arg779Leu) n.3859G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870867C= | CA1528476387 | DNAH5 | c.3734G= (p.Arg1245=) c.3689G= (p.Arg1230=) n.3941G= c.3842G= (p.Arg1281=) c.2747G= (p.Arg916=) c.2336G= (p.Arg779=) n.3859G= | |
5 | g.13870867C>G | CA359231804 | DNAH5 | c.3734G>C (p.Arg1245Pro) c.3689G>C (p.Arg1230Pro) n.3941G>C c.3842G>C (p.Arg1281Pro) c.2747G>C (p.Arg916Pro) c.2336G>C (p.Arg779Pro) n.3859G>C | |
5 | g.13870867C>T | CA242429 | DNAH5 | c.3734G>A (p.Arg1245His) c.3689G>A (p.Arg1230His) n.3941G>A c.3842G>A (p.Arg1281His) c.2747G>A (p.Arg916His) c.2336G>A (p.Arg779His) n.3859G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870868G>A | CA3204189 | DNAH5 | c.3733C>T (p.Arg1245Cys) c.3688C>T (p.Arg1230Cys) n.3940C>T c.3841C>T (p.Arg1281Cys) c.2746C>T (p.Arg916Cys) c.2335C>T (p.Arg779Cys) n.3858C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13870868G>C | CA359231809 | DNAH5 | c.3733C>G (p.Arg1245Gly) c.3688C>G (p.Arg1230Gly) n.3940C>G c.3841C>G (p.Arg1281Gly) c.2746C>G (p.Arg916Gly) c.2335C>G (p.Arg779Gly) n.3858C>G | |
5 | g.13870868G= | CA1528476390 | DNAH5 | c.3733C= (p.Arg1245=) c.3688C= (p.Arg1230=) n.3940C= c.3841C= (p.Arg1281=) c.2746C= (p.Arg916=) c.2335C= (p.Arg779=) n.3858C= | |
5 | g.13870868G>T | CA359231820 | DNAH5 | c.3733C>A (p.Arg1245Ser) c.3688C>A (p.Arg1230Ser) n.3940C>A c.3841C>A (p.Arg1281Ser) c.2746C>A (p.Arg916Ser) c.2335C>A (p.Arg779Ser) n.3858C>A | gnomAD v4 |
5 | g.13870869A>C | CA359231834 | DNAH5 | c.3732T>G (p.Asn1244Lys) c.3687T>G (p.Asn1229Lys) n.3939T>G c.3840T>G (p.Asn1280Lys) c.2745T>G (p.Asn915Lys) c.2334T>G (p.Asn778Lys) n.3857T>G | |
5 | g.13870869A>G | CA443535331 | DNAH5 | c.3732T>C (p.Asn1244=) c.3687T>C (p.Asn1229=) n.3939T>C c.3840T>C (p.Asn1280=) c.2745T>C (p.Asn915=) c.2334T>C (p.Asn778=) n.3857T>C | |
5 | g.13870869A>T | CA359231826 | DNAH5 | c.3732T>A (p.Asn1244Lys) c.3687T>A (p.Asn1229Lys) n.3939T>A c.3840T>A (p.Asn1280Lys) c.2745T>A (p.Asn915Lys) c.2334T>A (p.Asn778Lys) n.3857T>A | |
5 | g.13870870T>A | CA359231837 | DNAH5 | c.3731A>T (p.Asn1244Ile) c.3686A>T (p.Asn1229Ile) n.3938A>T c.3839A>T (p.Asn1280Ile) c.2744A>T (p.Asn915Ile) c.2333A>T (p.Asn778Ile) n.3856A>T | |
5 | g.13870870T>C | CA359231840 | DNAH5 | c.3731A>G (p.Asn1244Ser) c.3686A>G (p.Asn1229Ser) n.3938A>G c.3839A>G (p.Asn1280Ser) c.2744A>G (p.Asn915Ser) c.2333A>G (p.Asn778Ser) n.3856A>G | dbSNP gnomAD v4 |
5 | g.13870870T>G | CA359231841 | DNAH5 | c.3731A>C (p.Asn1244Thr) c.3686A>C (p.Asn1229Thr) n.3938A>C c.3839A>C (p.Asn1280Thr) c.2744A>C (p.Asn915Thr) c.2333A>C (p.Asn778Thr) n.3856A>C | |
5 | g.13870870T= | CA1528476394 | DNAH5 | c.3731A= (p.Asn1244=) c.3686A= (p.Asn1229=) n.3938A= c.3839A= (p.Asn1280=) c.2744A= (p.Asn915=) c.2333A= (p.Asn778=) n.3856A= | |
5 | g.13870871T>A | CA359231842 | DNAH5 | c.3730A>T (p.Asn1244Tyr) c.3685A>T (p.Asn1229Tyr) n.3937A>T c.3838A>T (p.Asn1280Tyr) c.2743A>T (p.Asn915Tyr) c.2332A>T (p.Asn778Tyr) n.3855A>T | |
5 | g.13870871T>C | CA359231843 | DNAH5 | c.3730A>G (p.Asn1244Asp) c.3685A>G (p.Asn1229Asp) n.3937A>G c.3838A>G (p.Asn1280Asp) c.2743A>G (p.Asn915Asp) c.2332A>G (p.Asn778Asp) n.3855A>G | |
5 | g.13870871T>G | CA359231844 | DNAH5 | c.3730A>C (p.Asn1244His) c.3685A>C (p.Asn1229His) n.3937A>C c.3838A>C (p.Asn1280His) c.2743A>C (p.Asn915His) c.2332A>C (p.Asn778His) n.3855A>C | dbSNP |
5 | g.13870871T= | CA1528476395 | DNAH5 | c.3730A= (p.Asn1244=) c.3685A= (p.Asn1229=) n.3937A= c.3838A= (p.Asn1280=) c.2743A= (p.Asn915=) c.2332A= (p.Asn778=) n.3855A= | |
5 | g.13870872T>A | CA443535332 | DNAH5 | c.3729A>T (p.Leu1243=) c.3684A>T (p.Leu1228=) n.3936A>T c.3837A>T (p.Leu1279=) c.2742A>T (p.Leu914=) c.2331A>T (p.Leu777=) n.3854A>T | |
5 | g.13870872T>C | CA443535333 | DNAH5 | c.3729A>G (p.Leu1243=) c.3684A>G (p.Leu1228=) n.3936A>G c.3837A>G (p.Leu1279=) c.2742A>G (p.Leu914=) c.2331A>G (p.Leu777=) n.3854A>G | gnomAD v4 |
5 | g.13870872T>G | CA443535334 | DNAH5 | c.3729A>C (p.Leu1243=) c.3684A>C (p.Leu1228=) n.3936A>C c.3837A>C (p.Leu1279=) c.2742A>C (p.Leu914=) c.2331A>C (p.Leu777=) n.3854A>C | ClinVar |
5 | g.13870873A= | CA1528476397 | DNAH5 | c.3728T= (p.Leu1243=) c.3683T= (p.Leu1228=) n.3935T= c.3836T= (p.Leu1279=) c.2741T= (p.Leu914=) c.2330T= (p.Leu777=) n.3853T= | |
5 | g.13870873A>C | CA3204190 | DNAH5 | c.3728T>G (p.Leu1243Arg) c.3683T>G (p.Leu1228Arg) n.3935T>G c.3836T>G (p.Leu1279Arg) c.2741T>G (p.Leu914Arg) c.2330T>G (p.Leu777Arg) n.3853T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870873A>G | CA359231845 | DNAH5 | c.3728T>C (p.Leu1243Pro) c.3683T>C (p.Leu1228Pro) n.3935T>C c.3836T>C (p.Leu1279Pro) c.2741T>C (p.Leu914Pro) c.2330T>C (p.Leu777Pro) n.3853T>C | |
5 | g.13870873A>T | CA359231846 | DNAH5 | c.3728T>A (p.Leu1243Gln) c.3683T>A (p.Leu1228Gln) n.3935T>A c.3836T>A (p.Leu1279Gln) c.2741T>A (p.Leu914Gln) c.2330T>A (p.Leu777Gln) n.3853T>A | |
5 | g.13870874G>A | CA443535335 | DNAH5 | c.3727C>T (p.Leu1243=) c.3682C>T (p.Leu1228=) n.3934C>T c.3835C>T (p.Leu1279=) c.2740C>T (p.Leu914=) c.2329C>T (p.Leu777=) n.3852C>T | |
5 | g.13870874G>C | CA359231847 | DNAH5 | c.3727C>G (p.Leu1243Val) c.3682C>G (p.Leu1228Val) n.3934C>G c.3835C>G (p.Leu1279Val) c.2740C>G (p.Leu914Val) c.2329C>G (p.Leu777Val) n.3852C>G | ClinVar dbSNP gnomAD v4 |
5 | g.13870874G>T | CA359231848 | DNAH5 | c.3727C>A (p.Leu1243Ile) c.3682C>A (p.Leu1228Ile) n.3934C>A c.3835C>A (p.Leu1279Ile) c.2740C>A (p.Leu914Ile) c.2329C>A (p.Leu777Ile) n.3852C>A | |
5 | g.13870875T>A | CA359231850 | DNAH5 | c.3726A>T (p.Lys1242Asn) c.3681A>T (p.Lys1227Asn) n.3933A>T c.3834A>T (p.Lys1278Asn) c.2739A>T (p.Lys913Asn) c.2328A>T (p.Lys776Asn) n.3851A>T | |
5 | g.13870875T>C | CA443535336 | DNAH5 | c.3726A>G (p.Lys1242=) c.3681A>G (p.Lys1227=) n.3933A>G c.3834A>G (p.Lys1278=) c.2739A>G (p.Lys913=) c.2328A>G (p.Lys776=) n.3851A>G | |
5 | g.13870875T>G | CA359231851 | DNAH5 | c.3726A>C (p.Lys1242Asn) c.3681A>C (p.Lys1227Asn) n.3933A>C c.3834A>C (p.Lys1278Asn) c.2739A>C (p.Lys913Asn) c.2328A>C (p.Lys776Asn) n.3851A>C | |
5 | g.13870877del | CA2673276439 | DNAH5 | c.3726del (p.Lys1242AsnfsTer2) c.3681del (p.Lys1227AsnfsTer2) n.3933del c.3834del (p.Lys1278AsnfsTer2) c.2739del (p.Lys913AsnfsTer2) c.2328del (p.Lys776AsnfsTer2) n.3851del | gnomAD v4 |
5 | g.13870876T>A | CA359231858 | DNAH5 | c.3725A>T (p.Lys1242Ile) c.3680A>T (p.Lys1227Ile) n.3932A>T c.3833A>T (p.Lys1278Ile) c.2738A>T (p.Lys913Ile) c.2327A>T (p.Lys776Ile) n.3850A>T | |
5 | g.13870876T>C | CA359231861 | DNAH5 | c.3725A>G (p.Lys1242Arg) c.3680A>G (p.Lys1227Arg) n.3932A>G c.3833A>G (p.Lys1278Arg) c.2738A>G (p.Lys913Arg) c.2327A>G (p.Lys776Arg) n.3850A>G | ClinVar dbSNP |
5 | g.13870876T>G | CA359231853 | DNAH5 | c.3725A>C (p.Lys1242Thr) c.3680A>C (p.Lys1227Thr) n.3932A>C c.3833A>C (p.Lys1278Thr) c.2738A>C (p.Lys913Thr) c.2327A>C (p.Lys776Thr) n.3850A>C | |
5 | g.13870876T= | CA1528476399 | DNAH5 | c.3725A= (p.Lys1242=) c.3680A= (p.Lys1227=) n.3932A= c.3833A= (p.Lys1278=) c.2738A= (p.Lys913=) c.2327A= (p.Lys776=) n.3850A= | |
5 | g.13870877T>A | CA359231870 | DNAH5 | c.3724A>T (p.Lys1242Ter) c.3679A>T (p.Lys1227Ter) n.3931A>T c.3832A>T (p.Lys1278Ter) c.2737A>T (p.Lys913Ter) c.2326A>T (p.Lys776Ter) n.3849A>T | |
5 | g.13870877T>C | CA359231865 | DNAH5 | c.3724A>G (p.Lys1242Glu) c.3679A>G (p.Lys1227Glu) n.3931A>G c.3832A>G (p.Lys1278Glu) c.2737A>G (p.Lys913Glu) c.2326A>G (p.Lys776Glu) n.3849A>G | |
5 | g.13870877T>G | CA359231867 | DNAH5 | c.3724A>C (p.Lys1242Gln) c.3679A>C (p.Lys1227Gln) n.3931A>C c.3832A>C (p.Lys1278Gln) c.2737A>C (p.Lys913Gln) c.2326A>C (p.Lys776Gln) n.3849A>C | gnomAD v4 |
5 | g.13870878C>A | CA359231871 | DNAH5 | c.3723G>T (p.Lys1241Asn) c.3678G>T (p.Lys1226Asn) n.3930G>T c.3831G>T (p.Lys1277Asn) c.2736G>T (p.Lys912Asn) c.2325G>T (p.Lys775Asn) n.3848G>T | gnomAD v4 |
5 | g.13870878C>G | CA359231874 | DNAH5 | c.3723G>C (p.Lys1241Asn) c.3678G>C (p.Lys1226Asn) n.3930G>C c.3831G>C (p.Lys1277Asn) c.2736G>C (p.Lys912Asn) c.2325G>C (p.Lys775Asn) n.3848G>C | |
5 | g.13870878C>T | CA443535337 | DNAH5 | c.3723G>A (p.Lys1241=) c.3678G>A (p.Lys1226=) n.3930G>A c.3831G>A (p.Lys1277=) c.2736G>A (p.Lys912=) c.2325G>A (p.Lys775=) n.3848G>A | gnomAD v4 COSMIC |
5 | g.13870879T>A | CA359231876 | DNAH5 | c.3722A>T (p.Lys1241Met) c.3677A>T (p.Lys1226Met) n.3929A>T c.3830A>T (p.Lys1277Met) c.2735A>T (p.Lys912Met) c.2324A>T (p.Lys775Met) n.3847A>T | |
5 | g.13870879T>C | CA359231877 | DNAH5 | c.3722A>G (p.Lys1241Arg) c.3677A>G (p.Lys1226Arg) n.3929A>G c.3830A>G (p.Lys1277Arg) c.2735A>G (p.Lys912Arg) c.2324A>G (p.Lys775Arg) n.3847A>G | |
5 | g.13870879T>G | CA359231884 | DNAH5 | c.3722A>C (p.Lys1241Thr) c.3677A>C (p.Lys1226Thr) n.3929A>C c.3830A>C (p.Lys1277Thr) c.2735A>C (p.Lys912Thr) c.2324A>C (p.Lys775Thr) n.3847A>C | |
5 | g.13870880T>A | CA359231887 | DNAH5 | c.3721A>T (p.Lys1241Ter) c.3676A>T (p.Lys1226Ter) n.3928A>T c.3829A>T (p.Lys1277Ter) c.2734A>T (p.Lys912Ter) c.2323A>T (p.Lys775Ter) n.3846A>T | |
5 | g.13870880T>C | CA359231888 | DNAH5 | c.3721A>G (p.Lys1241Glu) c.3676A>G (p.Lys1226Glu) n.3928A>G c.3829A>G (p.Lys1277Glu) c.2734A>G (p.Lys912Glu) c.2323A>G (p.Lys775Glu) n.3846A>G | |
5 | g.13870880T>G | CA359231890 | DNAH5 | c.3721A>C (p.Lys1241Gln) c.3676A>C (p.Lys1226Gln) n.3928A>C c.3829A>C (p.Lys1277Gln) c.2734A>C (p.Lys912Gln) c.2323A>C (p.Lys775Gln) n.3846A>C | |
5 | g.13870881A>C | CA359231891 | DNAH5 | c.3720T>G (p.Asn1240Lys) c.3675T>G (p.Asn1225Lys) n.3927T>G c.3828T>G (p.Asn1276Lys) c.2733T>G (p.Asn911Lys) c.2322T>G (p.Asn774Lys) n.3845T>G | |
5 | g.13870881A>G | CA443535338 | DNAH5 | c.3720T>C (p.Asn1240=) c.3675T>C (p.Asn1225=) n.3927T>C c.3828T>C (p.Asn1276=) c.2733T>C (p.Asn911=) c.2322T>C (p.Asn774=) n.3845T>C | |
5 | g.13870881A>T | CA359231893 | DNAH5 | c.3720T>A (p.Asn1240Lys) c.3675T>A (p.Asn1225Lys) n.3927T>A c.3828T>A (p.Asn1276Lys) c.2733T>A (p.Asn911Lys) c.2322T>A (p.Asn774Lys) n.3845T>A | |
5 | g.13870882T>A | CA359231897 | DNAH5 | c.3719A>T (p.Asn1240Ile) c.3674A>T (p.Asn1225Ile) n.3926A>T c.3827A>T (p.Asn1276Ile) c.2732A>T (p.Asn911Ile) c.2321A>T (p.Asn774Ile) n.3844A>T | dbSNP gnomAD v4 |
5 | g.13870882T>C | CA359231895 | DNAH5 | c.3719A>G (p.Asn1240Ser) c.3674A>G (p.Asn1225Ser) n.3926A>G c.3827A>G (p.Asn1276Ser) c.2732A>G (p.Asn911Ser) c.2321A>G (p.Asn774Ser) n.3844A>G | dbSNP gnomAD v4 COSMIC |
5 | g.13870882T>G | CA359231894 | DNAH5 | c.3719A>C (p.Asn1240Thr) c.3674A>C (p.Asn1225Thr) n.3926A>C c.3827A>C (p.Asn1276Thr) c.2732A>C (p.Asn911Thr) c.2321A>C (p.Asn774Thr) n.3844A>C | |
5 | g.13870882T= | CA1528476401 | DNAH5 | c.3719A= (p.Asn1240=) c.3674A= (p.Asn1225=) n.3926A= c.3827A= (p.Asn1276=) c.2732A= (p.Asn911=) c.2321A= (p.Asn774=) n.3844A= | |
5 | g.13870883T>A | CA359231899 | DNAH5 | c.3718A>T (p.Asn1240Tyr) c.3673A>T (p.Asn1225Tyr) n.3925A>T c.3826A>T (p.Asn1276Tyr) c.2731A>T (p.Asn911Tyr) c.2320A>T (p.Asn774Tyr) n.3843A>T | |
5 | g.13870883T>C | CA359231901 | DNAH5 | c.3718A>G (p.Asn1240Asp) c.3673A>G (p.Asn1225Asp) n.3925A>G c.3826A>G (p.Asn1276Asp) c.2731A>G (p.Asn911Asp) c.2320A>G (p.Asn774Asp) n.3843A>G | dbSNP gnomAD v4 |
5 | g.13870883T>G | CA359231904 | DNAH5 | c.3718A>C (p.Asn1240His) c.3673A>C (p.Asn1225His) n.3925A>C c.3826A>C (p.Asn1276His) c.2731A>C (p.Asn911His) c.2320A>C (p.Asn774His) n.3843A>C | |
5 | g.13870883T= | CA1528476406 | DNAH5 | c.3718A= (p.Asn1240=) c.3673A= (p.Asn1225=) n.3925A= c.3826A= (p.Asn1276=) c.2731A= (p.Asn911=) c.2320A= (p.Asn774=) n.3843A= | |
5 | g.13870884G>A | CA443535339 | DNAH5 | c.3717C>T (p.Phe1239=) c.3672C>T (p.Phe1224=) n.3924C>T c.3825C>T (p.Phe1275=) c.2730C>T (p.Phe910=) c.2319C>T (p.Phe773=) n.3842C>T | ClinVar COSMIC |
5 | g.13870884G>C | CA359231906 | DNAH5 | c.3717C>G (p.Phe1239Leu) c.3672C>G (p.Phe1224Leu) n.3924C>G c.3825C>G (p.Phe1275Leu) c.2730C>G (p.Phe910Leu) c.2319C>G (p.Phe773Leu) n.3842C>G | |
5 | g.13870884G>T | CA359231907 | DNAH5 | c.3717C>A (p.Phe1239Leu) c.3672C>A (p.Phe1224Leu) n.3924C>A c.3825C>A (p.Phe1275Leu) c.2730C>A (p.Phe910Leu) c.2319C>A (p.Phe773Leu) n.3842C>A | gnomAD v3 gnomAD v4 |
5 | g.13870885A>C | CA359231910 | DNAH5 | c.3716T>G (p.Phe1239Cys) c.3671T>G (p.Phe1224Cys) n.3923T>G c.3824T>G (p.Phe1275Cys) c.2729T>G (p.Phe910Cys) c.2318T>G (p.Phe773Cys) n.3841T>G | |
5 | g.13870885A>G | CA359231911 | DNAH5 | c.3716T>C (p.Phe1239Ser) c.3671T>C (p.Phe1224Ser) n.3923T>C c.3824T>C (p.Phe1275Ser) c.2729T>C (p.Phe910Ser) c.2318T>C (p.Phe773Ser) n.3841T>C | |
5 | g.13870885A>T | CA359231918 | DNAH5 | c.3716T>A (p.Phe1239Tyr) c.3671T>A (p.Phe1224Tyr) n.3923T>A c.3824T>A (p.Phe1275Tyr) c.2729T>A (p.Phe910Tyr) c.2318T>A (p.Phe773Tyr) n.3841T>A | |
5 | g.13870886A= | CA1528476408 | DNAH5 | c.3715T= (p.Phe1239=) c.3670T= (p.Phe1224=) n.3922T= c.3823T= (p.Phe1275=) c.2728T= (p.Phe910=) c.2317T= (p.Phe773=) n.3840T= | |
5 | g.13870886A>C | CA359231921 | DNAH5 | c.3715T>G (p.Phe1239Val) c.3670T>G (p.Phe1224Val) n.3922T>G c.3823T>G (p.Phe1275Val) c.2728T>G (p.Phe910Val) c.2317T>G (p.Phe773Val) n.3840T>G | |
5 | g.13870886A>G | CA359231923 | DNAH5 | c.3715T>C (p.Phe1239Leu) c.3670T>C (p.Phe1224Leu) n.3922T>C c.3823T>C (p.Phe1275Leu) c.2728T>C (p.Phe910Leu) c.2317T>C (p.Phe773Leu) n.3840T>C | |
5 | g.13870886A>T | CA359231924 | DNAH5 | c.3715T>A (p.Phe1239Ile) c.3670T>A (p.Phe1224Ile) n.3922T>A c.3823T>A (p.Phe1275Ile) c.2728T>A (p.Phe910Ile) c.2317T>A (p.Phe773Ile) n.3840T>A | dbSNP gnomAD v4 |
5 | g.13870887T>A | CA359231925 | DNAH5 | c.3714A>T (p.Glu1238Asp) c.3669A>T (p.Glu1223Asp) n.3921A>T c.3822A>T (p.Glu1274Asp) c.2727A>T (p.Glu909Asp) c.2316A>T (p.Glu772Asp) n.3839A>T | |
5 | g.13870887T>C | CA443535340 | DNAH5 | c.3714A>G (p.Glu1238=) c.3669A>G (p.Glu1223=) n.3921A>G c.3822A>G (p.Glu1274=) c.2727A>G (p.Glu909=) c.2316A>G (p.Glu772=) n.3839A>G | |
5 | g.13870887T>G | CA359231927 | DNAH5 | c.3714A>C (p.Glu1238Asp) c.3669A>C (p.Glu1223Asp) n.3921A>C c.3822A>C (p.Glu1274Asp) c.2727A>C (p.Glu909Asp) c.2316A>C (p.Glu772Asp) n.3839A>C | |
5 | g.13870888T>A | CA359231932 | DNAH5 | c.3713A>T (p.Glu1238Val) c.3668A>T (p.Glu1223Val) n.3920A>T c.3821A>T (p.Glu1274Val) c.2726A>T (p.Glu909Val) c.2315A>T (p.Glu772Val) n.3838A>T | |
5 | g.13870888T>C | CA359231931 | DNAH5 | c.3713A>G (p.Glu1238Gly) c.3668A>G (p.Glu1223Gly) n.3920A>G c.3821A>G (p.Glu1274Gly) c.2726A>G (p.Glu909Gly) c.2315A>G (p.Glu772Gly) n.3838A>G | |
5 | g.13870888T>G | CA359231929 | DNAH5 | c.3713A>C (p.Glu1238Ala) c.3668A>C (p.Glu1223Ala) n.3920A>C c.3821A>C (p.Glu1274Ala) c.2726A>C (p.Glu909Ala) c.2315A>C (p.Glu772Ala) n.3838A>C | |
5 | g.13870889C>A | CA359231935 | DNAH5 | c.3712G>T (p.Glu1238Ter) c.3667G>T (p.Glu1223Ter) n.3919G>T c.3820G>T (p.Glu1274Ter) c.2725G>T (p.Glu909Ter) c.2314G>T (p.Glu772Ter) n.3837G>T | COSMIC |
5 | g.13870889C= | CA1528476411 | DNAH5 | c.3712G= (p.Glu1238=) c.3667G= (p.Glu1223=) n.3919G= c.3820G= (p.Glu1274=) c.2725G= (p.Glu909=) c.2314G= (p.Glu772=) n.3837G= | |
5 | g.13870889C>G | CA359231933 | DNAH5 | c.3712G>C (p.Glu1238Gln) c.3667G>C (p.Glu1223Gln) n.3919G>C c.3820G>C (p.Glu1274Gln) c.2725G>C (p.Glu909Gln) c.2314G>C (p.Glu772Gln) n.3837G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870889C>T | CA3204191 | DNAH5 | c.3712G>A (p.Glu1238Lys) c.3667G>A (p.Glu1223Lys) n.3919G>A c.3820G>A (p.Glu1274Lys) c.2725G>A (p.Glu909Lys) c.2314G>A (p.Glu772Lys) n.3837G>A | dbSNP ExAC |
5 | g.13870890T>A | CA359231937 | DNAH5 | c.3711A>T (p.Glu1237Asp) c.3666A>T (p.Glu1222Asp) n.3918A>T c.3819A>T (p.Glu1273Asp) c.2724A>T (p.Glu908Asp) c.2313A>T (p.Glu771Asp) n.3836A>T | |
5 | g.13870890T>C | CA443535341 | DNAH5 | c.3711A>G (p.Glu1237=) c.3666A>G (p.Glu1222=) n.3918A>G c.3819A>G (p.Glu1273=) c.2724A>G (p.Glu908=) c.2313A>G (p.Glu771=) n.3836A>G | ClinVar dbSNP gnomAD v4 |
5 | g.13870890T>G | CA359231938 | DNAH5 | c.3711A>C (p.Glu1237Asp) c.3666A>C (p.Glu1222Asp) n.3918A>C c.3819A>C (p.Glu1273Asp) c.2724A>C (p.Glu908Asp) c.2313A>C (p.Glu771Asp) n.3836A>C | |
5 | g.13870891T>A | CA359231939 | DNAH5 | c.3710A>T (p.Glu1237Val) c.3665A>T (p.Glu1222Val) n.3917A>T c.3818A>T (p.Glu1273Val) c.2723A>T (p.Glu908Val) c.2312A>T (p.Glu771Val) n.3835A>T | |
5 | g.13870891T>C | CA359231940 | DNAH5 | c.3710A>G (p.Glu1237Gly) c.3665A>G (p.Glu1222Gly) n.3917A>G c.3818A>G (p.Glu1273Gly) c.2723A>G (p.Glu908Gly) c.2312A>G (p.Glu771Gly) n.3835A>G | |
5 | g.13870891T>G | CA359231942 | DNAH5 | c.3710A>C (p.Glu1237Ala) c.3665A>C (p.Glu1222Ala) n.3917A>C c.3818A>C (p.Glu1273Ala) c.2723A>C (p.Glu908Ala) c.2312A>C (p.Glu771Ala) n.3835A>C | |
5 | g.13870892C>A | CA359231944 | DNAH5 | c.3709G>T (p.Glu1237Ter) c.3664G>T (p.Glu1222Ter) n.3916G>T c.3817G>T (p.Glu1273Ter) c.2722G>T (p.Glu908Ter) c.2311G>T (p.Glu771Ter) n.3834G>T | |
5 | g.13870892C>G | CA359231948 | DNAH5 | c.3709G>C (p.Glu1237Gln) c.3664G>C (p.Glu1222Gln) n.3916G>C c.3817G>C (p.Glu1273Gln) c.2722G>C (p.Glu908Gln) c.2311G>C (p.Glu771Gln) n.3834G>C | |
5 | g.13870892C>T | CA359231946 | DNAH5 | c.3709G>A (p.Glu1237Lys) c.3664G>A (p.Glu1222Lys) n.3916G>A c.3817G>A (p.Glu1273Lys) c.2722G>A (p.Glu908Lys) c.2311G>A (p.Glu771Lys) n.3834G>A | |
5 | g.13870893A= | CA1528476414 | DNAH5 | c.3708T= (p.Ile1236=) c.3663T= (p.Ile1221=) n.3915T= c.3816T= (p.Ile1272=) c.2721T= (p.Ile907=) c.2310T= (p.Ile770=) n.3833T= | |
5 | g.13870893A>C | CA359231949 | DNAH5 | c.3708T>G (p.Ile1236Met) c.3663T>G (p.Ile1221Met) n.3915T>G c.3816T>G (p.Ile1272Met) c.2721T>G (p.Ile907Met) c.2310T>G (p.Ile770Met) n.3833T>G | ClinVar dbSNP gnomAD v4 |
5 | g.13870893A>G | CA443535342 | DNAH5 | c.3708T>C (p.Ile1236=) c.3663T>C (p.Ile1221=) n.3915T>C c.3816T>C (p.Ile1272=) c.2721T>C (p.Ile907=) c.2310T>C (p.Ile770=) n.3833T>C | |
5 | g.13870893A>T | CA443535343 | DNAH5 | c.3708T>A (p.Ile1236=) c.3663T>A (p.Ile1221=) n.3915T>A c.3816T>A (p.Ile1272=) c.2721T>A (p.Ile907=) c.2310T>A (p.Ile770=) n.3833T>A | |
5 | g.13870894A= | CA1528476416 | DNAH5 | c.3707T= (p.Ile1236=) c.3662T= (p.Ile1221=) n.3914T= c.3815T= (p.Ile1272=) c.2720T= (p.Ile907=) c.2309T= (p.Ile770=) n.3832T= | |
5 | g.13870894A>C | CA359231951 | DNAH5 | c.3707T>G (p.Ile1236Ser) c.3662T>G (p.Ile1221Ser) n.3914T>G c.3815T>G (p.Ile1272Ser) c.2720T>G (p.Ile907Ser) c.2309T>G (p.Ile770Ser) n.3832T>G | |
5 | g.13870894A>G | CA3204192 | DNAH5 | c.3707T>C (p.Ile1236Thr) c.3662T>C (p.Ile1221Thr) n.3914T>C c.3815T>C (p.Ile1272Thr) c.2720T>C (p.Ile907Thr) c.2309T>C (p.Ile770Thr) n.3832T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870894A>T | CA359231953 | DNAH5 | c.3707T>A (p.Ile1236Asn) c.3662T>A (p.Ile1221Asn) n.3914T>A c.3815T>A (p.Ile1272Asn) c.2720T>A (p.Ile907Asn) c.2309T>A (p.Ile770Asn) n.3832T>A | |
5 | g.13870895T>A | CA359231955 | DNAH5 | c.3706A>T (p.Ile1236Phe) c.3661A>T (p.Ile1221Phe) n.3913A>T c.3814A>T (p.Ile1272Phe) c.2719A>T (p.Ile907Phe) c.2308A>T (p.Ile770Phe) n.3831A>T | gnomAD v4 |
5 | g.13870895T>C | CA359231960 | DNAH5 | c.3706A>G (p.Ile1236Val) c.3661A>G (p.Ile1221Val) n.3913A>G c.3814A>G (p.Ile1272Val) c.2719A>G (p.Ile907Val) c.2308A>G (p.Ile770Val) n.3831A>G | gnomAD v4 |
5 | g.13870895T>G | CA359231957 | DNAH5 | c.3706A>C (p.Ile1236Leu) c.3661A>C (p.Ile1221Leu) n.3913A>C c.3814A>C (p.Ile1272Leu) c.2719A>C (p.Ile907Leu) c.2308A>C (p.Ile770Leu) n.3831A>C | |
5 | g.13870896A>C | CA443535344 | DNAH5 | c.3705T>G (p.Leu1235=) c.3660T>G (p.Leu1220=) n.3912T>G c.3813T>G (p.Leu1271=) c.2718T>G (p.Leu906=) c.2307T>G (p.Leu769=) n.3830T>G | |
5 | g.13870896A>G | CA443535345 | DNAH5 | c.3705T>C (p.Leu1235=) c.3660T>C (p.Leu1220=) n.3912T>C c.3813T>C (p.Leu1271=) c.2718T>C (p.Leu906=) c.2307T>C (p.Leu769=) n.3830T>C | |
5 | g.13870896A>T | CA443535346 | DNAH5 | c.3705T>A (p.Leu1235=) c.3660T>A (p.Leu1220=) n.3912T>A c.3813T>A (p.Leu1271=) c.2718T>A (p.Leu906=) c.2307T>A (p.Leu769=) n.3830T>A | |
5 | g.13870897A>C | CA359231962 | DNAH5 | c.3704T>G (p.Leu1235Arg) c.3659T>G (p.Leu1220Arg) n.3911T>G c.3812T>G (p.Leu1271Arg) c.2717T>G (p.Leu906Arg) c.2306T>G (p.Leu769Arg) n.3829T>G | |
5 | g.13870897A>G | CA359231964 | DNAH5 | c.3704T>C (p.Leu1235Pro) c.3659T>C (p.Leu1220Pro) n.3911T>C c.3812T>C (p.Leu1271Pro) c.2717T>C (p.Leu906Pro) c.2306T>C (p.Leu769Pro) n.3829T>C | |
5 | g.13870897A>T | CA359231966 | DNAH5 | c.3704T>A (p.Leu1235His) c.3659T>A (p.Leu1220His) n.3911T>A c.3812T>A (p.Leu1271His) c.2717T>A (p.Leu906His) c.2306T>A (p.Leu769His) n.3829T>A | |
5 | g.13870898G>A | CA113981379 | DNAH5 | c.3703C>T (p.Leu1235Phe) c.3658C>T (p.Leu1220Phe) n.3910C>T c.3811C>T (p.Leu1271Phe) c.2716C>T (p.Leu906Phe) c.2305C>T (p.Leu769Phe) n.3828C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870898G>C | CA3204193 | DNAH5 | c.3703C>G (p.Leu1235Val) c.3658C>G (p.Leu1220Val) n.3910C>G c.3811C>G (p.Leu1271Val) c.2716C>G (p.Leu906Val) c.2305C>G (p.Leu769Val) n.3828C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870898G= | CA1528476418 | DNAH5 | c.3703C= (p.Leu1235=) c.3658C= (p.Leu1220=) n.3910C= c.3811C= (p.Leu1271=) c.2716C= (p.Leu906=) c.2305C= (p.Leu769=) n.3828C= | |
5 | g.13870898G>T | CA359231969 | DNAH5 | c.3703C>A (p.Leu1235Ile) c.3658C>A (p.Leu1220Ile) n.3910C>A c.3811C>A (p.Leu1271Ile) c.2716C>A (p.Leu906Ile) c.2305C>A (p.Leu769Ile) n.3828C>A | |
5 | g.13870899C>A | CA359231971 | DNAH5 | c.3702G>T (p.Met1234Ile) c.3657G>T (p.Met1219Ile) n.3909G>T c.3810G>T (p.Met1270Ile) c.2715G>T (p.Met905Ile) c.2304G>T (p.Met768Ile) n.3827G>T | |
5 | g.13870899C>G | CA359231972 | DNAH5 | c.3702G>C (p.Met1234Ile) c.3657G>C (p.Met1219Ile) n.3909G>C c.3810G>C (p.Met1270Ile) c.2715G>C (p.Met905Ile) c.2304G>C (p.Met768Ile) n.3827G>C | |
5 | g.13870899C>T | CA359231973 | DNAH5 | c.3702G>A (p.Met1234Ile) c.3657G>A (p.Met1219Ile) n.3909G>A c.3810G>A (p.Met1270Ile) c.2715G>A (p.Met905Ile) c.2304G>A (p.Met768Ile) n.3827G>A | |
5 | g.13870900A= | CA1528476422 | DNAH5 | c.3701T= (p.Met1234=) c.3656T= (p.Met1219=) n.3908T= c.3809T= (p.Met1270=) c.2714T= (p.Met905=) c.2303T= (p.Met768=) n.3826T= | |
5 | g.13870900A>C | CA359231979 | DNAH5 | c.3701T>G (p.Met1234Arg) c.3656T>G (p.Met1219Arg) n.3908T>G c.3809T>G (p.Met1270Arg) c.2714T>G (p.Met905Arg) c.2303T>G (p.Met768Arg) n.3826T>G | |
5 | g.13870900A>G | CA3204194 | DNAH5 | c.3701T>C (p.Met1234Thr) c.3656T>C (p.Met1219Thr) n.3908T>C c.3809T>C (p.Met1270Thr) c.2714T>C (p.Met905Thr) c.2303T>C (p.Met768Thr) n.3826T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870900A>T | CA359231981 | DNAH5 | c.3701T>A (p.Met1234Lys) c.3656T>A (p.Met1219Lys) n.3908T>A c.3809T>A (p.Met1270Lys) c.2714T>A (p.Met905Lys) c.2303T>A (p.Met768Lys) n.3826T>A | |
5 | g.13870901T>A | CA359231984 | DNAH5 | c.3700A>T (p.Met1234Leu) c.3655A>T (p.Met1219Leu) n.3907A>T c.3808A>T (p.Met1270Leu) c.2713A>T (p.Met905Leu) c.2302A>T (p.Met768Leu) n.3825A>T | |
5 | g.13870901T>C | CA359231985 | DNAH5 | c.3700A>G (p.Met1234Val) c.3655A>G (p.Met1219Val) n.3907A>G c.3808A>G (p.Met1270Val) c.2713A>G (p.Met905Val) c.2302A>G (p.Met768Val) n.3825A>G | dbSNP gnomAD v2 |
5 | g.13870901T>G | CA359231982 | DNAH5 | c.3700A>C (p.Met1234Leu) c.3655A>C (p.Met1219Leu) n.3907A>C c.3808A>C (p.Met1270Leu) c.2713A>C (p.Met905Leu) c.2302A>C (p.Met768Leu) n.3825A>C | |
5 | g.13870901T= | CA1528476425 | DNAH5 | c.3700A= (p.Met1234=) c.3655A= (p.Met1219=) n.3907A= c.3808A= (p.Met1270=) c.2713A= (p.Met905=) c.2302A= (p.Met768=) n.3825A= | |
5 | g.13870901_13870902delinsTA | CA1528476426 | DNAH5 | c.3699_3700delinsTA (p.Phe1233=) c.3654_3655delinsTA (p.Phe1218=) n.3906_3907delinsTA c.3807_3808delinsTA (p.Phe1269=) c.2712_2713delinsTA (p.Phe904=) c.2301_2302delinsTA (p.Phe767=) n.3824_3825delinsTA | |
5 | g.13870902A>C | CA359231987 | DNAH5 | c.3699T>G (p.Phe1233Leu) c.3654T>G (p.Phe1218Leu) n.3906T>G c.3807T>G (p.Phe1269Leu) c.2712T>G (p.Phe904Leu) c.2301T>G (p.Phe767Leu) n.3824T>G | |
5 | g.13870902A>G | CA443535347 | DNAH5 | c.3699T>C (p.Phe1233=) c.3654T>C (p.Phe1218=) n.3906T>C c.3807T>C (p.Phe1269=) c.2712T>C (p.Phe904=) c.2301T>C (p.Phe767=) n.3824T>C | gnomAD v4 |
5 | g.13870902A>T | CA359231988 | DNAH5 | c.3699T>A (p.Phe1233Leu) c.3654T>A (p.Phe1218Leu) n.3906T>A c.3807T>A (p.Phe1269Leu) c.2712T>A (p.Phe904Leu) c.2301T>A (p.Phe767Leu) n.3824T>A | |
5 | g.13870906del | CA557876802 | DNAH5 | c.3699del (p.Phe1233LeufsTer11) c.3654del (p.Phe1218LeufsTer11) n.3906del c.3807del (p.Phe1269LeufsTer11) c.2712del (p.Phe904LeufsTer11) c.2301del (p.Phe767LeufsTer11) n.3824del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870903A= | CA1528476433 | DNAH5 | c.3698T= (p.Phe1233=) c.3653T= (p.Phe1218=) n.3905T= c.3806T= (p.Phe1269=) c.2711T= (p.Phe904=) c.2300T= (p.Phe767=) n.3823T= | |
5 | g.13870903A>C | CA359231990 | DNAH5 | c.3698T>G (p.Phe1233Cys) c.3653T>G (p.Phe1218Cys) n.3905T>G c.3806T>G (p.Phe1269Cys) c.2711T>G (p.Phe904Cys) c.2300T>G (p.Phe767Cys) n.3823T>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870903A>G | CA359231991 | DNAH5 | c.3698T>C (p.Phe1233Ser) c.3653T>C (p.Phe1218Ser) n.3905T>C c.3806T>C (p.Phe1269Ser) c.2711T>C (p.Phe904Ser) c.2300T>C (p.Phe767Ser) n.3823T>C | |
5 | g.13870903A>T | CA359231993 | DNAH5 | c.3698T>A (p.Phe1233Tyr) c.3653T>A (p.Phe1218Tyr) n.3905T>A c.3806T>A (p.Phe1269Tyr) c.2711T>A (p.Phe904Tyr) c.2300T>A (p.Phe767Tyr) n.3823T>A | |
5 | g.13870904A>C | CA359231994 | DNAH5 | c.3697T>G (p.Phe1233Val) c.3652T>G (p.Phe1218Val) n.3904T>G c.3805T>G (p.Phe1269Val) c.2710T>G (p.Phe904Val) c.2299T>G (p.Phe767Val) n.3822T>G | |
5 | g.13870904A>G | CA359231995 | DNAH5 | c.3697T>C (p.Phe1233Leu) c.3652T>C (p.Phe1218Leu) n.3904T>C c.3805T>C (p.Phe1269Leu) c.2710T>C (p.Phe904Leu) c.2299T>C (p.Phe767Leu) n.3822T>C | |
5 | g.13870904A>T | CA359231996 | DNAH5 | c.3697T>A (p.Phe1233Ile) c.3652T>A (p.Phe1218Ile) n.3904T>A c.3805T>A (p.Phe1269Ile) c.2710T>A (p.Phe904Ile) c.2299T>A (p.Phe767Ile) n.3822T>A | |
5 | g.13870905A= | CA1528476435 | DNAH5 | c.3696T= (p.Ile1232=) c.3651T= (p.Ile1217=) n.3903T= c.3804T= (p.Ile1268=) c.2709T= (p.Ile903=) c.2298T= (p.Ile766=) n.3821T= | |
5 | g.13870905A>C | CA359231997 | DNAH5 | c.3696T>G (p.Ile1232Met) c.3651T>G (p.Ile1217Met) n.3903T>G c.3804T>G (p.Ile1268Met) c.2709T>G (p.Ile903Met) c.2298T>G (p.Ile766Met) n.3821T>G | |
5 | g.13870905A>G | CA443535349 | DNAH5 | c.3696T>C (p.Ile1232=) c.3651T>C (p.Ile1217=) n.3903T>C c.3804T>C (p.Ile1268=) c.2709T>C (p.Ile903=) c.2298T>C (p.Ile766=) n.3821T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870905A>T | CA443535348 | DNAH5 | c.3696T>A (p.Ile1232=) c.3651T>A (p.Ile1217=) n.3903T>A c.3804T>A (p.Ile1268=) c.2709T>A (p.Ile903=) c.2298T>A (p.Ile766=) n.3821T>A | |
5 | g.13870906A>C | CA359231998 | DNAH5 | c.3695T>G (p.Ile1232Ser) c.3650T>G (p.Ile1217Ser) n.3902T>G c.3803T>G (p.Ile1268Ser) c.2708T>G (p.Ile903Ser) c.2297T>G (p.Ile766Ser) n.3820T>G | |
5 | g.13870906A>G | CA359231999 | DNAH5 | c.3695T>C (p.Ile1232Thr) c.3650T>C (p.Ile1217Thr) n.3902T>C c.3803T>C (p.Ile1268Thr) c.2708T>C (p.Ile903Thr) c.2297T>C (p.Ile766Thr) n.3820T>C | |
5 | g.13870906A>T | CA359232002 | DNAH5 | c.3695T>A (p.Ile1232Asn) c.3650T>A (p.Ile1217Asn) n.3902T>A c.3803T>A (p.Ile1268Asn) c.2708T>A (p.Ile903Asn) c.2297T>A (p.Ile766Asn) n.3820T>A | |
5 | g.13870907T>A | CA359232004 | DNAH5 | c.3694A>T (p.Ile1232Phe) c.3649A>T (p.Ile1217Phe) n.3901A>T c.3802A>T (p.Ile1268Phe) c.2707A>T (p.Ile903Phe) c.2296A>T (p.Ile766Phe) n.3819A>T | |
5 | g.13870907T>C | CA359232005 | DNAH5 | c.3694A>G (p.Ile1232Val) c.3649A>G (p.Ile1217Val) n.3901A>G c.3802A>G (p.Ile1268Val) c.2707A>G (p.Ile903Val) c.2296A>G (p.Ile766Val) n.3819A>G | |
5 | g.13870907T>G | CA359232006 | DNAH5 | c.3694A>C (p.Ile1232Leu) c.3649A>C (p.Ile1217Leu) n.3901A>C c.3802A>C (p.Ile1268Leu) c.2707A>C (p.Ile903Leu) c.2296A>C (p.Ile766Leu) n.3819A>C | |
5 | g.13870908G>A | CA113981384 | DNAH5 | c.3693C>T (p.Asn1231=) c.3648C>T (p.Asn1216=) n.3900C>T c.3801C>T (p.Asn1267=) c.2706C>T (p.Asn902=) c.2295C>T (p.Asn765=) n.3818C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870908G>C | CA359232008 | DNAH5 | c.3693C>G (p.Asn1231Lys) c.3648C>G (p.Asn1216Lys) n.3900C>G c.3801C>G (p.Asn1267Lys) c.2706C>G (p.Asn902Lys) c.2295C>G (p.Asn765Lys) n.3818C>G | gnomAD v4 |
5 | g.13870908G= | CA1528476438 | DNAH5 | c.3693C= (p.Asn1231=) c.3648C= (p.Asn1216=) n.3900C= c.3801C= (p.Asn1267=) c.2706C= (p.Asn902=) c.2295C= (p.Asn765=) n.3818C= | |
5 | g.13870908G>T | CA359232010 | DNAH5 | c.3693C>A (p.Asn1231Lys) c.3648C>A (p.Asn1216Lys) n.3900C>A c.3801C>A (p.Asn1267Lys) c.2706C>A (p.Asn902Lys) c.2295C>A (p.Asn765Lys) n.3818C>A | gnomAD v4 |
5 | g.13870909T>A | CA359232011 | DNAH5 | c.3692A>T (p.Asn1231Ile) c.3647A>T (p.Asn1216Ile) n.3899A>T c.3800A>T (p.Asn1267Ile) c.2705A>T (p.Asn902Ile) c.2294A>T (p.Asn765Ile) n.3817A>T | |
5 | g.13870909T>C | CA359232013 | DNAH5 | c.3692A>G (p.Asn1231Ser) c.3647A>G (p.Asn1216Ser) n.3899A>G c.3800A>G (p.Asn1267Ser) c.2705A>G (p.Asn902Ser) c.2294A>G (p.Asn765Ser) n.3817A>G | dbSNP gnomAD v4 |
5 | g.13870909T>G | CA359232014 | DNAH5 | c.3692A>C (p.Asn1231Thr) c.3647A>C (p.Asn1216Thr) n.3899A>C c.3800A>C (p.Asn1267Thr) c.2705A>C (p.Asn902Thr) c.2294A>C (p.Asn765Thr) n.3817A>C | |
5 | g.13870909T= | CA1528476440 | DNAH5 | c.3692A= (p.Asn1231=) c.3647A= (p.Asn1216=) n.3899A= c.3800A= (p.Asn1267=) c.2705A= (p.Asn902=) c.2294A= (p.Asn765=) n.3817A= | |
5 | g.13870910T>A | CA359232015 | DNAH5 | c.3691A>T (p.Asn1231Tyr) c.3646A>T (p.Asn1216Tyr) n.3898A>T c.3799A>T (p.Asn1267Tyr) c.2704A>T (p.Asn902Tyr) c.2293A>T (p.Asn765Tyr) n.3816A>T | |
5 | g.13870910T>C | CA359232017 | DNAH5 | c.3691A>G (p.Asn1231Asp) c.3646A>G (p.Asn1216Asp) n.3898A>G c.3799A>G (p.Asn1267Asp) c.2704A>G (p.Asn902Asp) c.2293A>G (p.Asn765Asp) n.3816A>G | |
5 | g.13870910T>G | CA359232018 | DNAH5 | c.3691A>C (p.Asn1231His) c.3646A>C (p.Asn1216His) n.3898A>C c.3799A>C (p.Asn1267His) c.2704A>C (p.Asn902His) c.2293A>C (p.Asn765His) n.3816A>C | |
5 | g.13870911T>A | CA359232020 | DNAH5 | c.3690A>T (p.Glu1230Asp) c.3645A>T (p.Glu1215Asp) n.3897A>T c.3798A>T (p.Glu1266Asp) c.2703A>T (p.Glu901Asp) c.2292A>T (p.Glu764Asp) n.3815A>T | |
5 | g.13870911T>C | CA443535350 | DNAH5 | c.3690A>G (p.Glu1230=) c.3645A>G (p.Glu1215=) n.3897A>G c.3798A>G (p.Glu1266=) c.2703A>G (p.Glu901=) c.2292A>G (p.Glu764=) n.3815A>G | |
5 | g.13870911T>G | CA359232021 | DNAH5 | c.3690A>C (p.Glu1230Asp) c.3645A>C (p.Glu1215Asp) n.3897A>C c.3798A>C (p.Glu1266Asp) c.2703A>C (p.Glu901Asp) c.2292A>C (p.Glu764Asp) n.3815A>C | |
5 | g.13870912T>A | CA359232023 | DNAH5 | c.3689A>T (p.Glu1230Val) c.3644A>T (p.Glu1215Val) n.3896A>T c.3797A>T (p.Glu1266Val) c.2702A>T (p.Glu901Val) c.2291A>T (p.Glu764Val) n.3814A>T | |
5 | g.13870912T>C | CA359232024 | DNAH5 | c.3689A>G (p.Glu1230Gly) c.3644A>G (p.Glu1215Gly) n.3896A>G c.3797A>G (p.Glu1266Gly) c.2702A>G (p.Glu901Gly) c.2291A>G (p.Glu764Gly) n.3814A>G | dbSNP |
5 | g.13870912T>G | CA359232025 | DNAH5 | c.3689A>C (p.Glu1230Ala) c.3644A>C (p.Glu1215Ala) n.3896A>C c.3797A>C (p.Glu1266Ala) c.2702A>C (p.Glu901Ala) c.2291A>C (p.Glu764Ala) n.3814A>C | |
5 | g.13870912T= | CA1528476442 | DNAH5 | c.3689A= (p.Glu1230=) c.3644A= (p.Glu1215=) n.3896A= c.3797A= (p.Glu1266=) c.2702A= (p.Glu901=) c.2291A= (p.Glu764=) n.3814A= | |
5 | g.13870913C>A | CA359232027 | DNAH5 | c.3688G>T (p.Glu1230Ter) c.3643G>T (p.Glu1215Ter) n.3895G>T c.3796G>T (p.Glu1266Ter) c.2701G>T (p.Glu901Ter) c.2290G>T (p.Glu764Ter) n.3813G>T | COSMIC |
5 | g.13870913C= | CA1528476443 | DNAH5 | c.3688G= (p.Glu1230=) c.3643G= (p.Glu1215=) n.3895G= c.3796G= (p.Glu1266=) c.2701G= (p.Glu901=) c.2290G= (p.Glu764=) n.3813G= | |
5 | g.13870913C>G | CA359232029 | DNAH5 | c.3688G>C (p.Glu1230Gln) c.3643G>C (p.Glu1215Gln) n.3895G>C c.3796G>C (p.Glu1266Gln) c.2701G>C (p.Glu901Gln) c.2290G>C (p.Glu764Gln) n.3813G>C | |
5 | g.13870913C>T | CA359232026 | DNAH5 | c.3688G>A (p.Glu1230Lys) c.3643G>A (p.Glu1215Lys) n.3895G>A c.3796G>A (p.Glu1266Lys) c.2701G>A (p.Glu901Lys) c.2290G>A (p.Glu764Lys) n.3813G>A | dbSNP |
5 | g.13870914C>A | CA359232034 | DNAH5 | c.3687G>T (p.Met1229Ile) c.3642G>T (p.Met1214Ile) n.3894G>T c.3795G>T (p.Met1265Ile) c.2700G>T (p.Met900Ile) c.2289G>T (p.Met763Ile) n.3812G>T | |
5 | g.13870914C>G | CA359232036 | DNAH5 | c.3687G>C (p.Met1229Ile) c.3642G>C (p.Met1214Ile) n.3894G>C c.3795G>C (p.Met1265Ile) c.2700G>C (p.Met900Ile) c.2289G>C (p.Met763Ile) n.3812G>C | |
5 | g.13870914C>T | CA359232045 | DNAH5 | c.3687G>A (p.Met1229Ile) c.3642G>A (p.Met1214Ile) n.3894G>A c.3795G>A (p.Met1265Ile) c.2700G>A (p.Met900Ile) c.2289G>A (p.Met763Ile) n.3812G>A | |
5 | g.13870915A>C | CA359232048 | DNAH5 | c.3686T>G (p.Met1229Arg) c.3641T>G (p.Met1214Arg) n.3893T>G c.3794T>G (p.Met1265Arg) c.2699T>G (p.Met900Arg) c.2288T>G (p.Met763Arg) n.3811T>G | |
5 | g.13870915A>G | CA359232050 | DNAH5 | c.3686T>C (p.Met1229Thr) c.3641T>C (p.Met1214Thr) n.3893T>C c.3794T>C (p.Met1265Thr) c.2699T>C (p.Met900Thr) c.2288T>C (p.Met763Thr) n.3811T>C | gnomAD v4 |
5 | g.13870915A>T | CA359232052 | DNAH5 | c.3686T>A (p.Met1229Lys) c.3641T>A (p.Met1214Lys) n.3893T>A c.3794T>A (p.Met1265Lys) c.2699T>A (p.Met900Lys) c.2288T>A (p.Met763Lys) n.3811T>A | gnomAD v4 COSMIC |
5 | g.13870916T>A | CA359232054 | DNAH5 | c.3685A>T (p.Met1229Leu) c.3640A>T (p.Met1214Leu) n.3892A>T c.3793A>T (p.Met1265Leu) c.2698A>T (p.Met900Leu) c.2287A>T (p.Met763Leu) n.3810A>T | |
5 | g.13870916T>C | CA359232055 | DNAH5 | c.3685A>G (p.Met1229Val) c.3640A>G (p.Met1214Val) n.3892A>G c.3793A>G (p.Met1265Val) c.2698A>G (p.Met900Val) c.2287A>G (p.Met763Val) n.3810A>G | |
5 | g.13870916T>G | CA359232058 | DNAH5 | c.3685A>C (p.Met1229Leu) c.3640A>C (p.Met1214Leu) n.3892A>C c.3793A>C (p.Met1265Leu) c.2698A>C (p.Met900Leu) c.2287A>C (p.Met763Leu) n.3810A>C | |
5 | g.13870917C>A | CA359232059 | DNAH5 | c.3684G>T (p.Glu1228Asp) c.3639G>T (p.Glu1213Asp) n.3891G>T c.3792G>T (p.Glu1264Asp) c.2697G>T (p.Glu899Asp) c.2286G>T (p.Glu762Asp) n.3809G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870917C= | CA1528476446 | DNAH5 | c.3684G= (p.Glu1228=) c.3639G= (p.Glu1213=) n.3891G= c.3792G= (p.Glu1264=) c.2697G= (p.Glu899=) c.2286G= (p.Glu762=) n.3809G= | |
5 | g.13870917C>G | CA359232061 | DNAH5 | c.3684G>C (p.Glu1228Asp) c.3639G>C (p.Glu1213Asp) n.3891G>C c.3792G>C (p.Glu1264Asp) c.2697G>C (p.Glu899Asp) c.2286G>C (p.Glu762Asp) n.3809G>C | |
5 | g.13870917C>T | CA3204195 | DNAH5 | c.3684G>A (p.Glu1228=) c.3639G>A (p.Glu1213=) n.3891G>A c.3792G>A (p.Glu1264=) c.2697G>A (p.Glu899=) c.2286G>A (p.Glu762=) n.3809G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870918T>A | CA3204196 | DNAH5 | c.3683A>T (p.Glu1228Val) c.3638A>T (p.Glu1213Val) n.3890A>T c.3791A>T (p.Glu1264Val) c.2696A>T (p.Glu899Val) c.2285A>T (p.Glu762Val) n.3808A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870918T>C | CA359232068 | DNAH5 | c.3683A>G (p.Glu1228Gly) c.3638A>G (p.Glu1213Gly) n.3890A>G c.3791A>G (p.Glu1264Gly) c.2696A>G (p.Glu899Gly) c.2285A>G (p.Glu762Gly) n.3808A>G | |
5 | g.13870918T>G | CA359232065 | DNAH5 | c.3683A>C (p.Glu1228Ala) c.3638A>C (p.Glu1213Ala) n.3890A>C c.3791A>C (p.Glu1264Ala) c.2696A>C (p.Glu899Ala) c.2285A>C (p.Glu762Ala) n.3808A>C | |
5 | g.13870918T= | CA1528476449 | DNAH5 | c.3683A= (p.Glu1228=) c.3638A= (p.Glu1213=) n.3890A= c.3791A= (p.Glu1264=) c.2696A= (p.Glu899=) c.2285A= (p.Glu762=) n.3808A= | |
5 | g.13870919C>A | CA359232073 | DNAH5 | c.3682G>T (p.Glu1228Ter) c.3637G>T (p.Glu1213Ter) n.3889G>T c.3790G>T (p.Glu1264Ter) c.2695G>T (p.Glu899Ter) c.2284G>T (p.Glu762Ter) n.3807G>T | |
5 | g.13870919C>G | CA359232076 | DNAH5 | c.3682G>C (p.Glu1228Gln) c.3637G>C (p.Glu1213Gln) n.3889G>C c.3790G>C (p.Glu1264Gln) c.2695G>C (p.Glu899Gln) c.2284G>C (p.Glu762Gln) n.3807G>C | |
5 | g.13870919C>T | CA359232077 | DNAH5 | c.3682G>A (p.Glu1228Lys) c.3637G>A (p.Glu1213Lys) n.3889G>A c.3790G>A (p.Glu1264Lys) c.2695G>A (p.Glu899Lys) c.2284G>A (p.Glu762Lys) n.3807G>A | |
5 | g.13870920A= | CA1528476452 | DNAH5 | c.3681T= (p.Ser1227=) c.3636T= (p.Ser1212=) n.3888T= c.3789T= (p.Ser1263=) c.2694T= (p.Ser898=) c.2283T= (p.Ser761=) n.3806T= | |
5 | g.13870920A>C | CA3204197 | DNAH5 | c.3681T>G (p.Ser1227Arg) c.3636T>G (p.Ser1212Arg) n.3888T>G c.3789T>G (p.Ser1263Arg) c.2694T>G (p.Ser898Arg) c.2283T>G (p.Ser761Arg) n.3806T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870920A>G | CA443535351 | DNAH5 | c.3681T>C (p.Ser1227=) c.3636T>C (p.Ser1212=) n.3888T>C c.3789T>C (p.Ser1263=) c.2694T>C (p.Ser898=) c.2283T>C (p.Ser761=) n.3806T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13870920A>T | CA359232082 | DNAH5 | c.3681T>A (p.Ser1227Arg) c.3636T>A (p.Ser1212Arg) n.3888T>A c.3789T>A (p.Ser1263Arg) c.2694T>A (p.Ser898Arg) c.2283T>A (p.Ser761Arg) n.3806T>A | |
5 | g.13870921C>A | CA359232089 | DNAH5 | c.3680G>T (p.Ser1227Ile) c.3635G>T (p.Ser1212Ile) n.3887G>T c.3788G>T (p.Ser1263Ile) c.2693G>T (p.Ser898Ile) c.2282G>T (p.Ser761Ile) n.3805G>T | |
5 | g.13870921C>G | CA359232085 | DNAH5 | c.3680G>C (p.Ser1227Thr) c.3635G>C (p.Ser1212Thr) n.3887G>C c.3788G>C (p.Ser1263Thr) c.2693G>C (p.Ser898Thr) c.2282G>C (p.Ser761Thr) n.3805G>C | |
5 | g.13870921C>T | CA359232087 | DNAH5 | c.3680G>A (p.Ser1227Asn) c.3635G>A (p.Ser1212Asn) n.3887G>A c.3788G>A (p.Ser1263Asn) c.2693G>A (p.Ser898Asn) c.2282G>A (p.Ser761Asn) n.3805G>A | |
5 | g.13870922T>A | CA359232091 | DNAH5 | c.3679A>T (p.Ser1227Cys) c.3634A>T (p.Ser1212Cys) n.3886A>T c.3787A>T (p.Ser1263Cys) c.2692A>T (p.Ser898Cys) c.2281A>T (p.Ser761Cys) n.3804A>T | |
5 | g.13870922T>C | CA359232093 | DNAH5 | c.3679A>G (p.Ser1227Gly) c.3634A>G (p.Ser1212Gly) n.3886A>G c.3787A>G (p.Ser1263Gly) c.2692A>G (p.Ser898Gly) c.2281A>G (p.Ser761Gly) n.3804A>G | |
5 | g.13870922T>G | CA359232094 | DNAH5 | c.3679A>C (p.Ser1227Arg) c.3634A>C (p.Ser1212Arg) n.3886A>C c.3787A>C (p.Ser1263Arg) c.2692A>C (p.Ser898Arg) c.2281A>C (p.Ser761Arg) n.3804A>C | gnomAD v4 |
5 | g.13870923C>A | CA443535352 | DNAH5 | c.3678G>T (p.Arg1226=) c.3633G>T (p.Arg1211=) n.3885G>T c.3786G>T (p.Arg1262=) c.2691G>T (p.Arg897=) c.2280G>T (p.Arg760=) n.3803G>T | |
5 | g.13870923C>G | CA443535353 | DNAH5 | c.3678G>C (p.Arg1226=) c.3633G>C (p.Arg1211=) n.3885G>C c.3786G>C (p.Arg1262=) c.2691G>C (p.Arg897=) c.2280G>C (p.Arg760=) n.3803G>C | |
5 | g.13870923C>T | CA443535354 | DNAH5 | c.3678G>A (p.Arg1226=) c.3633G>A (p.Arg1211=) n.3885G>A c.3786G>A (p.Arg1262=) c.2691G>A (p.Arg897=) c.2280G>A (p.Arg760=) n.3803G>A | gnomAD v4 |
5 | g.13870924C>A | CA359232097 | DNAH5 | c.3677G>T (p.Arg1226Leu) c.3632G>T (p.Arg1211Leu) n.3884G>T c.3785G>T (p.Arg1262Leu) c.2690G>T (p.Arg897Leu) c.2279G>T (p.Arg760Leu) n.3802G>T | |
5 | g.13870924C= | CA1528476453 | DNAH5 | c.3677G= (p.Arg1226=) c.3632G= (p.Arg1211=) n.3884G= c.3785G= (p.Arg1262=) c.2690G= (p.Arg897=) c.2279G= (p.Arg760=) n.3802G= | |
5 | g.13870924C>G | CA359232100 | DNAH5 | c.3677G>C (p.Arg1226Pro) c.3632G>C (p.Arg1211Pro) n.3884G>C c.3785G>C (p.Arg1262Pro) c.2690G>C (p.Arg897Pro) c.2279G>C (p.Arg760Pro) n.3802G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870924C>T | CA3204198 | DNAH5 | c.3677G>A (p.Arg1226Gln) c.3632G>A (p.Arg1211Gln) n.3884G>A c.3785G>A (p.Arg1262Gln) c.2690G>A (p.Arg897Gln) c.2279G>A (p.Arg760Gln) n.3802G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870925G>A | CA3204199 | DNAH5 | c.3676C>T (p.Arg1226Trp) c.3631C>T (p.Arg1211Trp) n.3883C>T c.3784C>T (p.Arg1262Trp) c.2689C>T (p.Arg897Trp) c.2278C>T (p.Arg760Trp) n.3801C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870925G>C | CA359232104 | DNAH5 | c.3676C>G (p.Arg1226Gly) c.3631C>G (p.Arg1211Gly) n.3883C>G c.3784C>G (p.Arg1262Gly) c.2689C>G (p.Arg897Gly) c.2278C>G (p.Arg760Gly) n.3801C>G | |
5 | g.13870925G= | CA1528476457 | DNAH5 | c.3676C= (p.Arg1226=) c.3631C= (p.Arg1211=) n.3883C= c.3784C= (p.Arg1262=) c.2689C= (p.Arg897=) c.2278C= (p.Arg760=) n.3801C= | |
5 | g.13870925G>T | CA443535355 | DNAH5 | c.3676C>A (p.Arg1226=) c.3631C>A (p.Arg1211=) n.3883C>A c.3784C>A (p.Arg1262=) c.2689C>A (p.Arg897=) c.2278C>A (p.Arg760=) n.3801C>A | |
5 | g.13870926G>A | CA3204201 | DNAH5 | c.3675C>T (p.Tyr1225=) c.3630C>T (p.Tyr1210=) n.3882C>T c.3783C>T (p.Tyr1261=) c.2688C>T (p.Tyr896=) c.2277C>T (p.Tyr759=) n.3800C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870926G>C | CA3204200 | DNAH5 | c.3675C>G (p.Tyr1225Ter) c.3630C>G (p.Tyr1210Ter) n.3882C>G c.3783C>G (p.Tyr1261Ter) c.2688C>G (p.Tyr896Ter) c.2277C>G (p.Tyr759Ter) n.3800C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870926G= | CA1528476461 | DNAH5 | c.3675C= (p.Tyr1225=) c.3630C= (p.Tyr1210=) n.3882C= c.3783C= (p.Tyr1261=) c.2688C= (p.Tyr896=) c.2277C= (p.Tyr759=) n.3800C= | |
5 | g.13870926G>T | CA359232108 | DNAH5 | c.3675C>A (p.Tyr1225Ter) c.3630C>A (p.Tyr1210Ter) n.3882C>A c.3783C>A (p.Tyr1261Ter) c.2688C>A (p.Tyr896Ter) c.2277C>A (p.Tyr759Ter) n.3800C>A |