UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13708259T>A | CA359197485 | DNAH5 | n.535A>T c.13202A>T (p.Gln4401Leu) c.13157A>T (p.Gln4386Leu) c.13310A>T (p.Gln4437Leu) c.12890A>T (p.Gln4297Leu) c.12215A>T (p.Gln4072Leu) c.8399A>T (p.Gln2800Leu) c.7952A>T (p.Gln2651Leu) c.7289A>T (p.Gln2430Leu) c.11804A>T (p.Gln3935Leu) | |
| 5 | g.13708259T>C | CA359197489 | DNAH5 | n.535A>G c.13202A>G (p.Gln4401Arg) c.13157A>G (p.Gln4386Arg) c.13310A>G (p.Gln4437Arg) c.12890A>G (p.Gln4297Arg) c.12215A>G (p.Gln4072Arg) c.8399A>G (p.Gln2800Arg) c.7952A>G (p.Gln2651Arg) c.7289A>G (p.Gln2430Arg) c.11804A>G (p.Gln3935Arg) | gnomAD v4 |
| 5 | g.13708259T>G | CA359197494 | DNAH5 | n.535A>C c.13202A>C (p.Gln4401Pro) c.13157A>C (p.Gln4386Pro) c.13310A>C (p.Gln4437Pro) c.12890A>C (p.Gln4297Pro) c.12215A>C (p.Gln4072Pro) c.8399A>C (p.Gln2800Pro) c.7952A>C (p.Gln2651Pro) c.7289A>C (p.Gln2430Pro) c.11804A>C (p.Gln3935Pro) | |
| 5 | g.13708260G>A | CA359197500 | DNAH5 | n.534C>T c.13201C>T (p.Gln4401Ter) c.13156C>T (p.Gln4386Ter) c.13309C>T (p.Gln4437Ter) c.12889C>T (p.Gln4297Ter) c.12214C>T (p.Gln4072Ter) c.8398C>T (p.Gln2800Ter) c.7951C>T (p.Gln2651Ter) c.7288C>T (p.Gln2430Ter) c.11803C>T (p.Gln3935Ter) | dbSNP |
| 5 | g.13708260G>C | CA359197496 | DNAH5 | n.534C>G c.13201C>G (p.Gln4401Glu) c.13156C>G (p.Gln4386Glu) c.13309C>G (p.Gln4437Glu) c.12889C>G (p.Gln4297Glu) c.12214C>G (p.Gln4072Glu) c.8398C>G (p.Gln2800Glu) c.7951C>G (p.Gln2651Glu) c.7288C>G (p.Gln2430Glu) c.11803C>G (p.Gln3935Glu) | |
| 5 | g.13708260G= | CA1528403779 | DNAH5 | n.534C= c.13201C= (p.Gln4401=) c.13156C= (p.Gln4386=) c.13309C= (p.Gln4437=) c.12889C= (p.Gln4297=) c.12214C= (p.Gln4072=) c.8398C= (p.Gln2800=) c.7951C= (p.Gln2651=) c.7288C= (p.Gln2430=) c.11803C= (p.Gln3935=) | |
| 5 | g.13708260G>T | CA359197495 | DNAH5 | n.534C>A c.13201C>A (p.Gln4401Lys) c.13156C>A (p.Gln4386Lys) c.13309C>A (p.Gln4437Lys) c.12889C>A (p.Gln4297Lys) c.12214C>A (p.Gln4072Lys) c.8398C>A (p.Gln2800Lys) c.7951C>A (p.Gln2651Lys) c.7288C>A (p.Gln2430Lys) c.11803C>A (p.Gln3935Lys) | |
| 5 | g.13708261C>A | CA359197527 | DNAH5 | n.533G>T c.13200G>T (p.Met4400Ile) c.13155G>T (p.Met4385Ile) c.13308G>T (p.Met4436Ile) c.12888G>T (p.Met4296Ile) c.12213G>T (p.Met4071Ile) c.8397G>T (p.Met2799Ile) c.7950G>T (p.Met2650Ile) c.7287G>T (p.Met2429Ile) c.11802G>T (p.Met3934Ile) | |
| 5 | g.13708261C= | CA1528403780 | DNAH5 | n.533G= c.13200G= (p.Met4400=) c.13155G= (p.Met4385=) c.13308G= (p.Met4436=) c.12888G= (p.Met4296=) c.12213G= (p.Met4071=) c.8397G= (p.Met2799=) c.7950G= (p.Met2650=) c.7287G= (p.Met2429=) c.11802G= (p.Met3934=) | |
| 5 | g.13708261C>G | CA359197508 | DNAH5 | n.533G>C c.13200G>C (p.Met4400Ile) c.13155G>C (p.Met4385Ile) c.13308G>C (p.Met4436Ile) c.12888G>C (p.Met4296Ile) c.12213G>C (p.Met4071Ile) c.8397G>C (p.Met2799Ile) c.7950G>C (p.Met2650Ile) c.7287G>C (p.Met2429Ile) c.11802G>C (p.Met3934Ile) | |
| 5 | g.13708261C>T | CA3201421 | DNAH5 | n.533G>A c.13200G>A (p.Met4400Ile) c.13155G>A (p.Met4385Ile) c.13308G>A (p.Met4436Ile) c.12888G>A (p.Met4296Ile) c.12213G>A (p.Met4071Ile) c.8397G>A (p.Met2799Ile) c.7950G>A (p.Met2650Ile) c.7287G>A (p.Met2429Ile) c.11802G>A (p.Met3934Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708262A= | CA1528403781 | DNAH5 | n.532T= c.13199T= (p.Met4400=) c.13154T= (p.Met4385=) c.13307T= (p.Met4436=) c.12887T= (p.Met4296=) c.12212T= (p.Met4071=) c.8396T= (p.Met2799=) c.7949T= (p.Met2650=) c.7286T= (p.Met2429=) c.11801T= (p.Met3934=) | |
| 5 | g.13708262A>C | CA359197539 | DNAH5 | n.532T>G c.13199T>G (p.Met4400Arg) c.13154T>G (p.Met4385Arg) c.13307T>G (p.Met4436Arg) c.12887T>G (p.Met4296Arg) c.12212T>G (p.Met4071Arg) c.8396T>G (p.Met2799Arg) c.7949T>G (p.Met2650Arg) c.7286T>G (p.Met2429Arg) c.11801T>G (p.Met3934Arg) | |
| 5 | g.13708262A>G | CA359197554 | DNAH5 | n.532T>C c.13199T>C (p.Met4400Thr) c.13154T>C (p.Met4385Thr) c.13307T>C (p.Met4436Thr) c.12887T>C (p.Met4296Thr) c.12212T>C (p.Met4071Thr) c.8396T>C (p.Met2799Thr) c.7949T>C (p.Met2650Thr) c.7286T>C (p.Met2429Thr) c.11801T>C (p.Met3934Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708262A>T | CA359197545 | DNAH5 | n.532T>A c.13199T>A (p.Met4400Lys) c.13154T>A (p.Met4385Lys) c.13307T>A (p.Met4436Lys) c.12887T>A (p.Met4296Lys) c.12212T>A (p.Met4071Lys) c.8396T>A (p.Met2799Lys) c.7949T>A (p.Met2650Lys) c.7286T>A (p.Met2429Lys) c.11801T>A (p.Met3934Lys) | |
| 5 | g.13708263T>A | CA359197561 | DNAH5 | n.531A>T c.13198A>T (p.Met4400Leu) c.13153A>T (p.Met4385Leu) c.13306A>T (p.Met4436Leu) c.12886A>T (p.Met4296Leu) c.12211A>T (p.Met4071Leu) c.8395A>T (p.Met2799Leu) c.7948A>T (p.Met2650Leu) c.7285A>T (p.Met2429Leu) c.11800A>T (p.Met3934Leu) | dbSNP |
| 5 | g.13708263T>C | CA359197573 | DNAH5 | n.531A>G c.13198A>G (p.Met4400Val) c.13153A>G (p.Met4385Val) c.13306A>G (p.Met4436Val) c.12886A>G (p.Met4296Val) c.12211A>G (p.Met4071Val) c.8395A>G (p.Met2799Val) c.7948A>G (p.Met2650Val) c.7285A>G (p.Met2429Val) c.11800A>G (p.Met3934Val) | gnomAD v4 |
| 5 | g.13708263T>G | CA359197568 | DNAH5 | n.531A>C c.13198A>C (p.Met4400Leu) c.13153A>C (p.Met4385Leu) c.13306A>C (p.Met4436Leu) c.12886A>C (p.Met4296Leu) c.12211A>C (p.Met4071Leu) c.8395A>C (p.Met2799Leu) c.7948A>C (p.Met2650Leu) c.7285A>C (p.Met2429Leu) c.11800A>C (p.Met3934Leu) | |
| 5 | g.13708263T= | CA1528403783 | DNAH5 | n.531A= c.13198A= (p.Met4400=) c.13153A= (p.Met4385=) c.13306A= (p.Met4436=) c.12886A= (p.Met4296=) c.12211A= (p.Met4071=) c.8395A= (p.Met2799=) c.7948A= (p.Met2650=) c.7285A= (p.Met2429=) c.11800A= (p.Met3934=) | |
| 5 | g.13708263_13708267delinsTTCTG | CA1528403782 | DNAH5 | n.527_531delinsCAGAA c.13194_13198delinsCAGAA (p.Asp4398=) c.13149_13153delinsCAGAA (p.Asp4383=) c.13302_13306delinsCAGAA (p.Asp4434=) c.12882_12886delinsCAGAA (p.Asp4294=) c.12207_12211delinsCAGAA (p.Asp4069=) c.8391_8395delinsCAGAA (p.Asp2797=) c.7944_7948delinsCAGAA (p.Asp2648=) c.7281_7285delinsCAGAA (p.Asp2427=) c.11796_11800delinsCAGAA (p.Asp3932=) | |
| 5 | g.13708264T>A | CA359197579 | DNAH5 | n.530A>T c.13197A>T (p.Arg4399Ser) c.13152A>T (p.Arg4384Ser) c.13305A>T (p.Arg4435Ser) c.12885A>T (p.Arg4295Ser) c.12210A>T (p.Arg4070Ser) c.8394A>T (p.Arg2798Ser) c.7947A>T (p.Arg2649Ser) c.7284A>T (p.Arg2428Ser) c.11799A>T (p.Arg3933Ser) | |
| 5 | g.13708264T>C | CA443251322 | DNAH5 | n.530A>G c.13197A>G (p.Arg4399=) c.13152A>G (p.Arg4384=) c.13305A>G (p.Arg4435=) c.12885A>G (p.Arg4295=) c.12210A>G (p.Arg4070=) c.8394A>G (p.Arg2798=) c.7947A>G (p.Arg2649=) c.7284A>G (p.Arg2428=) c.11799A>G (p.Arg3933=) | |
| 5 | g.13708264T>G | CA359197584 | DNAH5 | n.530A>C c.13197A>C (p.Arg4399Ser) c.13152A>C (p.Arg4384Ser) c.13305A>C (p.Arg4435Ser) c.12885A>C (p.Arg4295Ser) c.12210A>C (p.Arg4070Ser) c.8394A>C (p.Arg2798Ser) c.7947A>C (p.Arg2649Ser) c.7284A>C (p.Arg2428Ser) c.11799A>C (p.Arg3933Ser) | |
| 5 | g.13708265_13708266del | CA2578269595 | DNAH5 | n.529_530del c.13196_13197del (p.Arg4399AsnfsTer14) c.13151_13152del (p.Arg4384AsnfsTer14) c.13304_13305del (p.Arg4435AsnfsTer14) c.12884_12885del (p.Arg4295AsnfsTer14) c.12209_12210del (p.Arg4070AsnfsTer14) c.8393_8394del (p.Arg2798AsnfsTer14) c.7946_7947del (p.Arg2649AsnfsTer14) c.7283_7284del (p.Arg2428AsnfsTer14) c.11798_11799del (p.Arg3933AsnfsTer14) | |
| 5 | g.13708267_13708270del | CA273135 | DNAH5 | n.527_530del c.13194_13197del (p.Asp4398GlufsTer16) c.13149_13152del (p.Asp4383GlufsTer16) c.13302_13305del (p.Asp4434GlufsTer16) c.12882_12885del (p.Asp4294GlufsTer16) c.12207_12210del (p.Asp4069GlufsTer16) c.8391_8394del (p.Asp2797GlufsTer16) c.7944_7947del (p.Asp2648GlufsTer16) c.7281_7284del (p.Asp2427GlufsTer16) c.11796_11799del (p.Asp3932GlufsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708265C>A | CA359197585 | DNAH5 | n.529G>T c.13196G>T (p.Arg4399Ile) c.13151G>T (p.Arg4384Ile) c.13304G>T (p.Arg4435Ile) c.12884G>T (p.Arg4295Ile) c.12209G>T (p.Arg4070Ile) c.8393G>T (p.Arg2798Ile) c.7946G>T (p.Arg2649Ile) c.7283G>T (p.Arg2428Ile) c.11798G>T (p.Arg3933Ile) | |
| 5 | g.13708265C>G | CA359197587 | DNAH5 | n.529G>C c.13196G>C (p.Arg4399Thr) c.13151G>C (p.Arg4384Thr) c.13304G>C (p.Arg4435Thr) c.12884G>C (p.Arg4295Thr) c.12209G>C (p.Arg4070Thr) c.8393G>C (p.Arg2798Thr) c.7946G>C (p.Arg2649Thr) c.7283G>C (p.Arg2428Thr) c.11798G>C (p.Arg3933Thr) | |
| 5 | g.13708265C>T | CA359197586 | DNAH5 | n.529G>A c.13196G>A (p.Arg4399Lys) c.13151G>A (p.Arg4384Lys) c.13304G>A (p.Arg4435Lys) c.12884G>A (p.Arg4295Lys) c.12209G>A (p.Arg4070Lys) c.8393G>A (p.Arg2798Lys) c.7946G>A (p.Arg2649Lys) c.7283G>A (p.Arg2428Lys) c.11798G>A (p.Arg3933Lys) | |
| 5 | g.13708266T>A | CA359197592 | DNAH5 | n.528A>T c.13195A>T (p.Arg4399Ter) c.13150A>T (p.Arg4384Ter) c.13303A>T (p.Arg4435Ter) c.12883A>T (p.Arg4295Ter) c.12208A>T (p.Arg4070Ter) c.8392A>T (p.Arg2798Ter) c.7945A>T (p.Arg2649Ter) c.7282A>T (p.Arg2428Ter) c.11797A>T (p.Arg3933Ter) | gnomAD v4 |
| 5 | g.13708266T>C | CA359197595 | DNAH5 | n.528A>G c.13195A>G (p.Arg4399Gly) c.13150A>G (p.Arg4384Gly) c.13303A>G (p.Arg4435Gly) c.12883A>G (p.Arg4295Gly) c.12208A>G (p.Arg4070Gly) c.8392A>G (p.Arg2798Gly) c.7945A>G (p.Arg2649Gly) c.7282A>G (p.Arg2428Gly) c.11797A>G (p.Arg3933Gly) | |
| 5 | g.13708266T>G | CA443251324 | DNAH5 | n.528A>C c.13195A>C (p.Arg4399=) c.13150A>C (p.Arg4384=) c.13303A>C (p.Arg4435=) c.12883A>C (p.Arg4295=) c.12208A>C (p.Arg4070=) c.8392A>C (p.Arg2798=) c.7945A>C (p.Arg2649=) c.7282A>C (p.Arg2428=) c.11797A>C (p.Arg3933=) | gnomAD v4 |
| 5 | g.13708267G>A | CA3201424 | DNAH5 | n.527C>T c.13194C>T (p.Asp4398=) c.13149C>T (p.Asp4383=) c.13302C>T (p.Asp4434=) c.12882C>T (p.Asp4294=) c.12207C>T (p.Asp4069=) c.8391C>T (p.Asp2797=) c.7944C>T (p.Asp2648=) c.7281C>T (p.Asp2427=) c.11796C>T (p.Asp3932=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708267G>C | CA3201422 | DNAH5 | n.527C>G c.13194C>G (p.Asp4398Glu) c.13149C>G (p.Asp4383Glu) c.13302C>G (p.Asp4434Glu) c.12882C>G (p.Asp4294Glu) c.12207C>G (p.Asp4069Glu) c.8391C>G (p.Asp2797Glu) c.7944C>G (p.Asp2648Glu) c.7281C>G (p.Asp2427Glu) c.11796C>G (p.Asp3932Glu) | dbSNP ExAC gnomAD v4 |
| 5 | g.13708267G= | CA1528403784 | DNAH5 | n.527C= c.13194C= (p.Asp4398=) c.13149C= (p.Asp4383=) c.13302C= (p.Asp4434=) c.12882C= (p.Asp4294=) c.12207C= (p.Asp4069=) c.8391C= (p.Asp2797=) c.7944C= (p.Asp2648=) c.7281C= (p.Asp2427=) c.11796C= (p.Asp3932=) | |
| 5 | g.13708267G>T | CA3201423 | DNAH5 | n.527C>A c.13194C>A (p.Asp4398Glu) c.13149C>A (p.Asp4383Glu) c.13302C>A (p.Asp4434Glu) c.12882C>A (p.Asp4294Glu) c.12207C>A (p.Asp4069Glu) c.8391C>A (p.Asp2797Glu) c.7944C>A (p.Asp2648Glu) c.7281C>A (p.Asp2427Glu) c.11796C>A (p.Asp3932Glu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.13708268T>A | CA359197615 | DNAH5 | n.526A>T c.13193A>T (p.Asp4398Val) c.13148A>T (p.Asp4383Val) c.13301A>T (p.Asp4434Val) c.12881A>T (p.Asp4294Val) c.12206A>T (p.Asp4069Val) c.8390A>T (p.Asp2797Val) c.7943A>T (p.Asp2648Val) c.7280A>T (p.Asp2427Val) c.11795A>T (p.Asp3932Val) | |
| 5 | g.13708268T>C | CA3201425 | DNAH5 | n.526A>G c.13193A>G (p.Asp4398Gly) c.13148A>G (p.Asp4383Gly) c.13301A>G (p.Asp4434Gly) c.12881A>G (p.Asp4294Gly) c.12206A>G (p.Asp4069Gly) c.8390A>G (p.Asp2797Gly) c.7943A>G (p.Asp2648Gly) c.7280A>G (p.Asp2427Gly) c.11795A>G (p.Asp3932Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708268T>G | CA359197618 | DNAH5 | n.526A>C c.13193A>C (p.Asp4398Ala) c.13148A>C (p.Asp4383Ala) c.13301A>C (p.Asp4434Ala) c.12881A>C (p.Asp4294Ala) c.12206A>C (p.Asp4069Ala) c.8390A>C (p.Asp2797Ala) c.7943A>C (p.Asp2648Ala) c.7280A>C (p.Asp2427Ala) c.11795A>C (p.Asp3932Ala) | |
| 5 | g.13708268T= | CA1528403785 | DNAH5 | n.526A= c.13193A= (p.Asp4398=) c.13148A= (p.Asp4383=) c.13301A= (p.Asp4434=) c.12881A= (p.Asp4294=) c.12206A= (p.Asp4069=) c.8390A= (p.Asp2797=) c.7943A= (p.Asp2648=) c.7280A= (p.Asp2427=) c.11795A= (p.Asp3932=) | |
| 5 | g.13708269C>A | CA359197621 | DNAH5 | n.525G>T c.13192G>T (p.Asp4398Tyr) c.13147G>T (p.Asp4383Tyr) c.13300G>T (p.Asp4434Tyr) c.12880G>T (p.Asp4294Tyr) c.12205G>T (p.Asp4069Tyr) c.8389G>T (p.Asp2797Tyr) c.7942G>T (p.Asp2648Tyr) c.7279G>T (p.Asp2427Tyr) c.11794G>T (p.Asp3932Tyr) | |
| 5 | g.13708269C= | CA1528403786 | DNAH5 | n.525G= c.13192G= (p.Asp4398=) c.13147G= (p.Asp4383=) c.13300G= (p.Asp4434=) c.12880G= (p.Asp4294=) c.12205G= (p.Asp4069=) c.8389G= (p.Asp2797=) c.7942G= (p.Asp2648=) c.7279G= (p.Asp2427=) c.11794G= (p.Asp3932=) | |
| 5 | g.13708269C>G | CA359197623 | DNAH5 | n.525G>C c.13192G>C (p.Asp4398His) c.13147G>C (p.Asp4383His) c.13300G>C (p.Asp4434His) c.12880G>C (p.Asp4294His) c.12205G>C (p.Asp4069His) c.8389G>C (p.Asp2797His) c.7942G>C (p.Asp2648His) c.7279G>C (p.Asp2427His) c.11794G>C (p.Asp3932His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13708269C>T | CA359197627 | DNAH5 | n.525G>A c.13192G>A (p.Asp4398Asn) c.13147G>A (p.Asp4383Asn) c.13300G>A (p.Asp4434Asn) c.12880G>A (p.Asp4294Asn) c.12205G>A (p.Asp4069Asn) c.8389G>A (p.Asp2797Asn) c.7942G>A (p.Asp2648Asn) c.7279G>A (p.Asp2427Asn) c.11794G>A (p.Asp3932Asn) | |
| 5 | g.13708270T>A | CA443251331 | DNAH5 | n.524A>T c.13191A>T (p.Ile4397=) c.13146A>T (p.Ile4382=) c.13299A>T (p.Ile4433=) c.12879A>T (p.Ile4293=) c.12204A>T (p.Ile4068=) c.8388A>T (p.Ile2796=) c.7941A>T (p.Ile2647=) c.7278A>T (p.Ile2426=) c.11793A>T (p.Ile3931=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13708270T>C | CA359197632 | DNAH5 | n.524A>G c.13191A>G (p.Ile4397Met) c.13146A>G (p.Ile4382Met) c.13299A>G (p.Ile4433Met) c.12879A>G (p.Ile4293Met) c.12204A>G (p.Ile4068Met) c.8388A>G (p.Ile2796Met) c.7941A>G (p.Ile2647Met) c.7278A>G (p.Ile2426Met) c.11793A>G (p.Ile3931Met) | |
| 5 | g.13708270T>G | CA443251333 | DNAH5 | n.524A>C c.13191A>C (p.Ile4397=) c.13146A>C (p.Ile4382=) c.13299A>C (p.Ile4433=) c.12879A>C (p.Ile4293=) c.12204A>C (p.Ile4068=) c.8388A>C (p.Ile2796=) c.7941A>C (p.Ile2647=) c.7278A>C (p.Ile2426=) c.11793A>C (p.Ile3931=) | |
| 5 | g.13708270T= | CA1528403787 | DNAH5 | n.524A= c.13191A= (p.Ile4397=) c.13146A= (p.Ile4382=) c.13299A= (p.Ile4433=) c.12879A= (p.Ile4293=) c.12204A= (p.Ile4068=) c.8388A= (p.Ile2796=) c.7941A= (p.Ile2647=) c.7278A= (p.Ile2426=) c.11793A= (p.Ile3931=) | |
| 5 | g.13708271A>C | CA359197651 | DNAH5 | n.523T>G c.13190T>G (p.Ile4397Arg) c.13145T>G (p.Ile4382Arg) c.13298T>G (p.Ile4433Arg) c.12878T>G (p.Ile4293Arg) c.12203T>G (p.Ile4068Arg) c.8387T>G (p.Ile2796Arg) c.7940T>G (p.Ile2647Arg) c.7277T>G (p.Ile2426Arg) c.11792T>G (p.Ile3931Arg) | |
| 5 | g.13708271A>G | CA359197644 | DNAH5 | n.523T>C c.13190T>C (p.Ile4397Thr) c.13145T>C (p.Ile4382Thr) c.13298T>C (p.Ile4433Thr) c.12878T>C (p.Ile4293Thr) c.12203T>C (p.Ile4068Thr) c.8387T>C (p.Ile2796Thr) c.7940T>C (p.Ile2647Thr) c.7277T>C (p.Ile2426Thr) c.11792T>C (p.Ile3931Thr) | gnomAD v4 |
| 5 | g.13708271A>T | CA359197648 | DNAH5 | n.523T>A c.13190T>A (p.Ile4397Lys) c.13145T>A (p.Ile4382Lys) c.13298T>A (p.Ile4433Lys) c.12878T>A (p.Ile4293Lys) c.12203T>A (p.Ile4068Lys) c.8387T>A (p.Ile2796Lys) c.7940T>A (p.Ile2647Lys) c.7277T>A (p.Ile2426Lys) c.11792T>A (p.Ile3931Lys) |