| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130433351_130433375dup | CA2692135553 | HMCN2 | c.14841_14865dup c.14898_14922dup n.3244_3268dup c.14838_14862dup c.14775_14799dup c.14766_14790dup c.14721_14745dup c.11679_11703dup c.7476_7500dup n.92+254_92+278dup | gnomAD v4 |
| 9 | g.130433351_130433375del | CA590945144 | HMCN2 | c.14841_14865del c.14898_14922del n.3244_3268del c.14838_14862del c.14775_14799del c.14766_14790del c.14721_14745del c.11679_11703del c.7476_7500del n.92+254_92+278del | gnomAD v2 gnomAD v4 |
| 9 | g.130433362G>A | CA375219190 | HMCN2 | c.14852G>A (p.Arg4951His) c.14909G>A (p.Arg4970His) n.3255G>A c.14849G>A (p.Arg4950His) c.14786G>A (p.Arg4929His) c.14777G>A (p.Arg4926His) c.14732G>A (p.Arg4911His) c.11690G>A (p.Arg3897His) c.7487G>A (p.Arg2496His) n.92+259C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433362G>C | CA375219192 | HMCN2 | c.14852G>C (p.Arg4951Pro) c.14909G>C (p.Arg4970Pro) n.3255G>C c.14849G>C (p.Arg4950Pro) c.14786G>C (p.Arg4929Pro) c.14777G>C (p.Arg4926Pro) c.14732G>C (p.Arg4911Pro) c.11690G>C (p.Arg3897Pro) c.7487G>C (p.Arg2496Pro) n.92+259C>G | |
| 9 | g.130433362G= | CA1881266158 | HMCN2 | c.14852G= (p.Arg4951=) c.14909G= (p.Arg4970=) n.3255G= c.14849G= (p.Arg4950=) c.14786G= (p.Arg4929=) c.14777G= (p.Arg4926=) c.14732G= (p.Arg4911=) c.11690G= (p.Arg3897=) c.7487G= (p.Arg2496=) n.92+259C= | |
| 9 | g.130433362G>T | CA375219194 | HMCN2 | c.14852G>T (p.Arg4951Leu) c.14909G>T (p.Arg4970Leu) n.3255G>T c.14849G>T (p.Arg4950Leu) c.14786G>T (p.Arg4929Leu) c.14777G>T (p.Arg4926Leu) c.14732G>T (p.Arg4911Leu) c.11690G>T (p.Arg3897Leu) c.7487G>T (p.Arg2496Leu) n.92+259C>A | gnomAD v4 |
| 9 | g.130433363C>A | CA467387179 | HMCN2 | c.14853C>A (p.Arg4951=) c.14910C>A (p.Arg4970=) n.3256C>A c.14850C>A (p.Arg4950=) c.14787C>A (p.Arg4929=) c.14778C>A (p.Arg4926=) c.14733C>A (p.Arg4911=) c.11691C>A (p.Arg3897=) c.7488C>A (p.Arg2496=) n.92+258G>T | gnomAD v4 |
| 9 | g.130433363C= | CA1881266160 | HMCN2 | c.14853C= (p.Arg4951=) c.14910C= (p.Arg4970=) n.3256C= c.14850C= (p.Arg4950=) c.14787C= (p.Arg4929=) c.14778C= (p.Arg4926=) c.14733C= (p.Arg4911=) c.11691C= (p.Arg3897=) c.7488C= (p.Arg2496=) n.92+258G= | |
| 9 | g.130433363C>G | CA467387181 | HMCN2 | c.14853C>G (p.Arg4951=) c.14910C>G (p.Arg4970=) n.3256C>G c.14850C>G (p.Arg4950=) c.14787C>G (p.Arg4929=) c.14778C>G (p.Arg4926=) c.14733C>G (p.Arg4911=) c.11691C>G (p.Arg3897=) c.7488C>G (p.Arg2496=) n.92+258G>C | dbSNP gnomAD v4 |
| 9 | g.130433363C>T | CA467387182 | HMCN2 | c.14853C>T (p.Arg4951=) c.14910C>T (p.Arg4970=) n.3256C>T c.14850C>T (p.Arg4950=) c.14787C>T (p.Arg4929=) c.14778C>T (p.Arg4926=) c.14733C>T (p.Arg4911=) c.11691C>T (p.Arg3897=) c.7488C>T (p.Arg2496=) n.92+258G>A | gnomAD v4 |
| 9 | g.130433364T>A | CA375219197 | HMCN2 | c.14854T>A (p.Cys4952Ser) c.14911T>A (p.Cys4971Ser) n.3257T>A c.14851T>A (p.Cys4951Ser) c.14788T>A (p.Cys4930Ser) c.14779T>A (p.Cys4927Ser) c.14734T>A (p.Cys4912Ser) c.11692T>A (p.Cys3898Ser) c.7489T>A (p.Cys2497Ser) n.92+257A>T | gnomAD v4 |
| 9 | g.130433364T>C | CA375219198 | HMCN2 | c.14854T>C (p.Cys4952Arg) c.14911T>C (p.Cys4971Arg) n.3257T>C c.14851T>C (p.Cys4951Arg) c.14788T>C (p.Cys4930Arg) c.14779T>C (p.Cys4927Arg) c.14734T>C (p.Cys4912Arg) c.11692T>C (p.Cys3898Arg) c.7489T>C (p.Cys2497Arg) n.92+257A>G | dbSNP gnomAD v4 |
| 9 | g.130433364T>G | CA375219199 | HMCN2 | c.14854T>G (p.Cys4952Gly) c.14911T>G (p.Cys4971Gly) n.3257T>G c.14851T>G (p.Cys4951Gly) c.14788T>G (p.Cys4930Gly) c.14779T>G (p.Cys4927Gly) c.14734T>G (p.Cys4912Gly) c.11692T>G (p.Cys3898Gly) c.7489T>G (p.Cys2497Gly) n.92+257A>C | dbSNP gnomAD v4 |
| 9 | g.130433364T= | CA1881266165 | HMCN2 | c.14854T= (p.Cys4952=) c.14911T= (p.Cys4971=) n.3257T= c.14851T= (p.Cys4951=) c.14788T= (p.Cys4930=) c.14779T= (p.Cys4927=) c.14734T= (p.Cys4912=) c.11692T= (p.Cys3898=) c.7489T= (p.Cys2497=) n.92+257A= | |
| 9 | g.130433365G>A | CA375219200 | HMCN2 | c.14855G>A (p.Cys4952Tyr) c.14912G>A (p.Cys4971Tyr) n.3258G>A c.14852G>A (p.Cys4951Tyr) c.14789G>A (p.Cys4930Tyr) c.14780G>A (p.Cys4927Tyr) c.14735G>A (p.Cys4912Tyr) c.11693G>A (p.Cys3898Tyr) c.7490G>A (p.Cys2497Tyr) n.92+256C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433365G>C | CA375219202 | HMCN2 | c.14855G>C (p.Cys4952Ser) c.14912G>C (p.Cys4971Ser) n.3258G>C c.14852G>C (p.Cys4951Ser) c.14789G>C (p.Cys4930Ser) c.14780G>C (p.Cys4927Ser) c.14735G>C (p.Cys4912Ser) c.11693G>C (p.Cys3898Ser) c.7490G>C (p.Cys2497Ser) n.92+256C>G | |
| 9 | g.130433365G= | CA1881266172 | HMCN2 | c.14855G= (p.Cys4952=) c.14912G= (p.Cys4971=) n.3258G= c.14852G= (p.Cys4951=) c.14789G= (p.Cys4930=) c.14780G= (p.Cys4927=) c.14735G= (p.Cys4912=) c.11693G= (p.Cys3898=) c.7490G= (p.Cys2497=) n.92+256C= | |
| 9 | g.130433365G>T | CA375219201 | HMCN2 | c.14855G>T (p.Cys4952Phe) c.14912G>T (p.Cys4971Phe) n.3258G>T c.14852G>T (p.Cys4951Phe) c.14789G>T (p.Cys4930Phe) c.14780G>T (p.Cys4927Phe) c.14735G>T (p.Cys4912Phe) c.11693G>T (p.Cys3898Phe) c.7490G>T (p.Cys2497Phe) n.92+256C>A | gnomAD v4 |
| 9 | g.130433365_130433367delinsGCT | CA1881266173 | HMCN2 | c.14855_14857delinsGCT (p.Cys4952=) c.14912_14914delinsGCT (p.Cys4971=) n.3258_3260delinsGCT c.14852_14854delinsGCT (p.Cys4951=) c.14789_14791delinsGCT (p.Cys4930=) c.14780_14782delinsGCT (p.Cys4927=) c.14735_14737delinsGCT (p.Cys4912=) c.11693_11695delinsGCT (p.Cys3898=) c.7490_7492delinsGCT (p.Cys2497=) n.92+254_92+256delinsAGC | |
| 9 | g.130433366C>A | CA375219203 | HMCN2 | c.14856C>A (p.Cys4952Ter) c.14913C>A (p.Cys4971Ter) n.3259C>A c.14853C>A (p.Cys4951Ter) c.14790C>A (p.Cys4930Ter) c.14781C>A (p.Cys4927Ter) c.14736C>A (p.Cys4912Ter) c.11694C>A (p.Cys3898Ter) c.7491C>A (p.Cys2497Ter) n.92+255G>T | gnomAD v4 |
| 9 | g.130433366C>G | CA375219204 | HMCN2 | c.14856C>G (p.Cys4952Trp) c.14913C>G (p.Cys4971Trp) n.3259C>G c.14853C>G (p.Cys4951Trp) c.14790C>G (p.Cys4930Trp) c.14781C>G (p.Cys4927Trp) c.14736C>G (p.Cys4912Trp) c.11694C>G (p.Cys3898Trp) c.7491C>G (p.Cys2497Trp) n.92+255G>C | |
| 9 | g.130433366C>T | CA467387183 | HMCN2 | c.14856C>T (p.Cys4952=) c.14913C>T (p.Cys4971=) n.3259C>T c.14853C>T (p.Cys4951=) c.14790C>T (p.Cys4930=) c.14781C>T (p.Cys4927=) c.14736C>T (p.Cys4912=) c.11694C>T (p.Cys3898=) c.7491C>T (p.Cys2497=) n.92+255G>A | gnomAD v4 |
| 9 | g.130433367_130433368del | CA1881266176 | HMCN2 | c.14857_14858del (p.Ser4953AlafsTer?) c.14914_14915del (p.Ser4972AlafsTer?) n.3260_3261del c.14854_14855del (p.Ser4952AlafsTer?) c.14791_14792del (p.Ser4931AlafsTer?) c.14782_14783del (p.Ser4928AlafsTer?) c.14737_14738del (p.Ser4913AlafsTer?) c.11695_11696del (p.Ser3899AlafsTer?) c.7492_7493del (p.Ser2498AlafsTer?) n.92+254_92+255del | dbSNP |
| 9 | g.130433367T>A | CA375219205 | HMCN2 | c.14857T>A (p.Ser4953Thr) c.14914T>A (p.Ser4972Thr) n.3260T>A c.14854T>A (p.Ser4952Thr) c.14791T>A (p.Ser4931Thr) c.14782T>A (p.Ser4928Thr) c.14737T>A (p.Ser4913Thr) c.11695T>A (p.Ser3899Thr) c.7492T>A (p.Ser2498Thr) n.92+254A>T | |
| 9 | g.130433367T>C | CA375219206 | HMCN2 | c.14857T>C (p.Ser4953Pro) c.14914T>C (p.Ser4972Pro) n.3260T>C c.14854T>C (p.Ser4952Pro) c.14791T>C (p.Ser4931Pro) c.14782T>C (p.Ser4928Pro) c.14737T>C (p.Ser4913Pro) c.11695T>C (p.Ser3899Pro) c.7492T>C (p.Ser2498Pro) n.92+254A>G | gnomAD v4 |
| 9 | g.130433367T>G | CA375219207 | HMCN2 | c.14857T>G (p.Ser4953Ala) c.14914T>G (p.Ser4972Ala) n.3260T>G c.14854T>G (p.Ser4952Ala) c.14791T>G (p.Ser4931Ala) c.14782T>G (p.Ser4928Ala) c.14737T>G (p.Ser4913Ala) c.11695T>G (p.Ser3899Ala) c.7492T>G (p.Ser2498Ala) n.92+254A>C | |
| 9 | g.130433368C>A | CA375219208 | HMCN2 | c.14858C>A (p.Ser4953Ter) c.14915C>A (p.Ser4972Ter) n.3261C>A c.14855C>A (p.Ser4952Ter) c.14792C>A (p.Ser4931Ter) c.14783C>A (p.Ser4928Ter) c.14738C>A (p.Ser4913Ter) c.11696C>A (p.Ser3899Ter) c.7493C>A (p.Ser2498Ter) n.92+253G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433368C= | CA1881266177 | HMCN2 | c.14858C= (p.Ser4953=) c.14915C= (p.Ser4972=) n.3261C= c.14855C= (p.Ser4952=) c.14792C= (p.Ser4931=) c.14783C= (p.Ser4928=) c.14738C= (p.Ser4913=) c.11696C= (p.Ser3899=) c.7493C= (p.Ser2498=) n.92+253G= | |
| 9 | g.130433368C>G | CA375219209 | HMCN2 | c.14858C>G (p.Ser4953Trp) c.14915C>G (p.Ser4972Trp) n.3261C>G c.14855C>G (p.Ser4952Trp) c.14792C>G (p.Ser4931Trp) c.14783C>G (p.Ser4928Trp) c.14738C>G (p.Ser4913Trp) c.11696C>G (p.Ser3899Trp) c.7493C>G (p.Ser2498Trp) n.92+253G>C | gnomAD v4 |
| 9 | g.130433368C>T | CA375219210 | HMCN2 | c.14858C>T (p.Ser4953Leu) c.14915C>T (p.Ser4972Leu) n.3261C>T c.14855C>T (p.Ser4952Leu) c.14792C>T (p.Ser4931Leu) c.14783C>T (p.Ser4928Leu) c.14738C>T (p.Ser4913Leu) c.11696C>T (p.Ser3899Leu) c.7493C>T (p.Ser2498Leu) n.92+253G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433369G>A | CA200583016 | HMCN2 | c.14859G>A (p.Ser4953=) c.14916G>A (p.Ser4972=) n.3262G>A c.14856G>A (p.Ser4952=) c.14793G>A (p.Ser4931=) c.14784G>A (p.Ser4928=) c.14739G>A (p.Ser4913=) c.11697G>A (p.Ser3899=) c.7494G>A (p.Ser2498=) n.92+252C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433369G>C | CA467387185 | HMCN2 | c.14859G>C (p.Ser4953=) c.14916G>C (p.Ser4972=) n.3262G>C c.14856G>C (p.Ser4952=) c.14793G>C (p.Ser4931=) c.14784G>C (p.Ser4928=) c.14739G>C (p.Ser4913=) c.11697G>C (p.Ser3899=) c.7494G>C (p.Ser2498=) n.92+252C>G | |
| 9 | g.130433369G= | CA1881266180 | HMCN2 | c.14859G= (p.Ser4953=) c.14916G= (p.Ser4972=) n.3262G= c.14856G= (p.Ser4952=) c.14793G= (p.Ser4931=) c.14784G= (p.Ser4928=) c.14739G= (p.Ser4913=) c.11697G= (p.Ser3899=) c.7494G= (p.Ser2498=) n.92+252C= | |
| 9 | g.130433369G>T | CA467387186 | HMCN2 | c.14859G>T (p.Ser4953=) c.14916G>T (p.Ser4972=) n.3262G>T c.14856G>T (p.Ser4952=) c.14793G>T (p.Ser4931=) c.14784G>T (p.Ser4928=) c.14739G>T (p.Ser4913=) c.11697G>T (p.Ser3899=) c.7494G>T (p.Ser2498=) n.92+252C>A | dbSNP gnomAD v4 |
| 9 | g.130433370C>A | CA375219211 | HMCN2 | c.14860C>A (p.Gln4954Lys) c.14917C>A (p.Gln4973Lys) n.3263C>A c.14857C>A (p.Gln4953Lys) c.14794C>A (p.Gln4932Lys) c.14785C>A (p.Gln4929Lys) c.14740C>A (p.Gln4914Lys) c.11698C>A (p.Gln3900Lys) c.7495C>A (p.Gln2499Lys) n.92+251G>T | dbSNP gnomAD v4 |
| 9 | g.130433370C= | CA1881266183 | HMCN2 | c.14860C= (p.Gln4954=) c.14917C= (p.Gln4973=) n.3263C= c.14857C= (p.Gln4953=) c.14794C= (p.Gln4932=) c.14785C= (p.Gln4929=) c.14740C= (p.Gln4914=) c.11698C= (p.Gln3900=) c.7495C= (p.Gln2499=) n.92+251G= | |
| 9 | g.130433370C>G | CA375219212 | HMCN2 | c.14860C>G (p.Gln4954Glu) c.14917C>G (p.Gln4973Glu) n.3263C>G c.14857C>G (p.Gln4953Glu) c.14794C>G (p.Gln4932Glu) c.14785C>G (p.Gln4929Glu) c.14740C>G (p.Gln4914Glu) c.11698C>G (p.Gln3900Glu) c.7495C>G (p.Gln2499Glu) n.92+251G>C | |
| 9 | g.130433370C>T | CA375219213 | HMCN2 | c.14860C>T (p.Gln4954Ter) c.14917C>T (p.Gln4973Ter) n.3263C>T c.14857C>T (p.Gln4953Ter) c.14794C>T (p.Gln4932Ter) c.14785C>T (p.Gln4929Ter) c.14740C>T (p.Gln4914Ter) c.11698C>T (p.Gln3900Ter) c.7495C>T (p.Gln2499Ter) n.92+251G>A | gnomAD v4 |
| 9 | g.130433371A= | CA1881266185 | HMCN2 | c.14861A= (p.Gln4954=) c.14918A= (p.Gln4973=) n.3264A= c.14858A= (p.Gln4953=) c.14795A= (p.Gln4932=) c.14786A= (p.Gln4929=) c.14741A= (p.Gln4914=) c.11699A= (p.Gln3900=) c.7496A= (p.Gln2499=) n.92+250T= | |
| 9 | g.130433371A>C | CA375219214 | HMCN2 | c.14861A>C (p.Gln4954Pro) c.14918A>C (p.Gln4973Pro) n.3264A>C c.14858A>C (p.Gln4953Pro) c.14795A>C (p.Gln4932Pro) c.14786A>C (p.Gln4929Pro) c.14741A>C (p.Gln4914Pro) c.11699A>C (p.Gln3900Pro) c.7496A>C (p.Gln2499Pro) n.92+250T>G | dbSNP |
| 9 | g.130433371A>G | CA375219215 | HMCN2 | c.14861A>G (p.Gln4954Arg) c.14918A>G (p.Gln4973Arg) n.3264A>G c.14858A>G (p.Gln4953Arg) c.14795A>G (p.Gln4932Arg) c.14786A>G (p.Gln4929Arg) c.14741A>G (p.Gln4914Arg) c.11699A>G (p.Gln3900Arg) c.7496A>G (p.Gln2499Arg) n.92+250T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433371A>T | CA375219216 | HMCN2 | c.14861A>T (p.Gln4954Leu) c.14918A>T (p.Gln4973Leu) n.3264A>T c.14858A>T (p.Gln4953Leu) c.14795A>T (p.Gln4932Leu) c.14786A>T (p.Gln4929Leu) c.14741A>T (p.Gln4914Leu) c.11699A>T (p.Gln3900Leu) c.7496A>T (p.Gln2499Leu) n.92+250T>A | |
| 9 | g.130433372G>A | CA467387187 | HMCN2 | c.14862G>A (p.Gln4954=) c.14919G>A (p.Gln4973=) n.3265G>A c.14859G>A (p.Gln4953=) c.14796G>A (p.Gln4932=) c.14787G>A (p.Gln4929=) c.14742G>A (p.Gln4914=) c.11700G>A (p.Gln3900=) c.7497G>A (p.Gln2499=) n.92+249C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433372G>C | CA200583025 | HMCN2 | c.14862G>C (p.Gln4954His) c.14919G>C (p.Gln4973His) n.3265G>C c.14859G>C (p.Gln4953His) c.14796G>C (p.Gln4932His) c.14787G>C (p.Gln4929His) c.14742G>C (p.Gln4914His) c.11700G>C (p.Gln3900His) c.7497G>C (p.Gln2499His) n.92+249C>G | dbSNP |
| 9 | g.130433372G= | CA1881266187 | HMCN2 | c.14862G= (p.Gln4954=) c.14919G= (p.Gln4973=) n.3265G= c.14859G= (p.Gln4953=) c.14796G= (p.Gln4932=) c.14787G= (p.Gln4929=) c.14742G= (p.Gln4914=) c.11700G= (p.Gln3900=) c.7497G= (p.Gln2499=) n.92+249C= | |
| 9 | g.130433372G>T | CA375219217 | HMCN2 | c.14862G>T (p.Gln4954His) c.14919G>T (p.Gln4973His) n.3265G>T c.14859G>T (p.Gln4953His) c.14796G>T (p.Gln4932His) c.14787G>T (p.Gln4929His) c.14742G>T (p.Gln4914His) c.11700G>T (p.Gln3900His) c.7497G>T (p.Gln2499His) n.92+249C>A | gnomAD v4 |
| 9 | g.130433373del | CA2786081120 | HMCN2 | c.14863del (p.Asp4955ThrfsTer?) c.14920del (p.Asp4974ThrfsTer?) n.3266del c.14860del (p.Asp4954ThrfsTer?) c.14797del (p.Asp4933ThrfsTer?) c.14788del (p.Asp4930ThrfsTer?) c.14743del (p.Asp4915ThrfsTer?) c.11701del (p.Asp3901ThrfsTer?) c.7498del (p.Asp2500ThrfsTer?) n.92+249del | |
| 9 | g.130433373G>A | CA375219220 | HMCN2 | c.14863G>A (p.Asp4955Asn) c.14920G>A (p.Asp4974Asn) n.3266G>A c.14860G>A (p.Asp4954Asn) c.14797G>A (p.Asp4933Asn) c.14788G>A (p.Asp4930Asn) c.14743G>A (p.Asp4915Asn) c.11701G>A (p.Asp3901Asn) c.7498G>A (p.Asp2500Asn) n.92+248C>T | gnomAD v4 |
| 9 | g.130433373G>C | CA375219222 | HMCN2 | c.14863G>C (p.Asp4955His) c.14920G>C (p.Asp4974His) n.3266G>C c.14860G>C (p.Asp4954His) c.14797G>C (p.Asp4933His) c.14788G>C (p.Asp4930His) c.14743G>C (p.Asp4915His) c.11701G>C (p.Asp3901His) c.7498G>C (p.Asp2500His) n.92+248C>G | |
| 9 | g.130433373G>T | CA375219223 | HMCN2 | c.14863G>T (p.Asp4955Tyr) c.14920G>T (p.Asp4974Tyr) n.3266G>T c.14860G>T (p.Asp4954Tyr) c.14797G>T (p.Asp4933Tyr) c.14788G>T (p.Asp4930Tyr) c.14743G>T (p.Asp4915Tyr) c.11701G>T (p.Asp3901Tyr) c.7498G>T (p.Asp2500Tyr) n.92+248C>A | gnomAD v4 |
| 9 | g.130433374A>C | CA375219225 | HMCN2 | c.14864A>C (p.Asp4955Ala) c.14921A>C (p.Asp4974Ala) n.3267A>C c.14861A>C (p.Asp4954Ala) c.14798A>C (p.Asp4933Ala) c.14789A>C (p.Asp4930Ala) c.14744A>C (p.Asp4915Ala) c.11702A>C (p.Asp3901Ala) c.7499A>C (p.Asp2500Ala) n.92+247T>G | |
| 9 | g.130433374A>G | CA375219227 | HMCN2 | c.14864A>G (p.Asp4955Gly) c.14921A>G (p.Asp4974Gly) n.3267A>G c.14861A>G (p.Asp4954Gly) c.14798A>G (p.Asp4933Gly) c.14789A>G (p.Asp4930Gly) c.14744A>G (p.Asp4915Gly) c.11702A>G (p.Asp3901Gly) c.7499A>G (p.Asp2500Gly) n.92+247T>C | gnomAD v4 |
| 9 | g.130433374A>T | CA375219229 | HMCN2 | c.14864A>T (p.Asp4955Val) c.14921A>T (p.Asp4974Val) n.3267A>T c.14861A>T (p.Asp4954Val) c.14798A>T (p.Asp4933Val) c.14789A>T (p.Asp4930Val) c.14744A>T (p.Asp4915Val) c.11702A>T (p.Asp3901Val) c.7499A>T (p.Asp2500Val) n.92+247T>A | |
| 9 | g.130433375C>A | CA375219231 | HMCN2 | c.14865C>A (p.Asp4955Glu) c.14922C>A (p.Asp4974Glu) n.3268C>A c.14862C>A (p.Asp4954Glu) c.14799C>A (p.Asp4933Glu) c.14790C>A (p.Asp4930Glu) c.14745C>A (p.Asp4915Glu) c.11703C>A (p.Asp3901Glu) c.7500C>A (p.Asp2500Glu) n.92+246G>T | gnomAD v4 |
| 9 | g.130433375C= | CA1881266191 | HMCN2 | c.14865C= (p.Asp4955=) c.14922C= (p.Asp4974=) n.3268C= c.14862C= (p.Asp4954=) c.14799C= (p.Asp4933=) c.14790C= (p.Asp4930=) c.14745C= (p.Asp4915=) c.11703C= (p.Asp3901=) c.7500C= (p.Asp2500=) n.92+246G= | |
| 9 | g.130433375C>G | CA375219233 | HMCN2 | c.14865C>G (p.Asp4955Glu) c.14922C>G (p.Asp4974Glu) n.3268C>G c.14862C>G (p.Asp4954Glu) c.14799C>G (p.Asp4933Glu) c.14790C>G (p.Asp4930Glu) c.14745C>G (p.Asp4915Glu) c.11703C>G (p.Asp3901Glu) c.7500C>G (p.Asp2500Glu) n.92+246G>C | |
| 9 | g.130433375C>T | CA5283041 | HMCN2 | c.14865C>T (p.Asp4955=) c.14922C>T (p.Asp4974=) n.3268C>T c.14862C>T (p.Asp4954=) c.14799C>T (p.Asp4933=) c.14790C>T (p.Asp4930=) c.14745C>T (p.Asp4915=) c.11703C>T (p.Asp3901=) c.7500C>T (p.Asp2500=) n.92+246G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433376T>A | CA375219235 | HMCN2 | c.14866T>A (p.Cys4956Ser) c.14923T>A (p.Cys4975Ser) n.3269T>A c.14863T>A (p.Cys4955Ser) c.14800T>A (p.Cys4934Ser) c.14791T>A (p.Cys4931Ser) c.14746T>A (p.Cys4916Ser) c.11704T>A (p.Cys3902Ser) c.7501T>A (p.Cys2501Ser) n.92+245A>T | |
| 9 | g.130433376T>C | CA375219236 | HMCN2 | c.14866T>C (p.Cys4956Arg) c.14923T>C (p.Cys4975Arg) n.3269T>C c.14863T>C (p.Cys4955Arg) c.14800T>C (p.Cys4934Arg) c.14791T>C (p.Cys4931Arg) c.14746T>C (p.Cys4916Arg) c.11704T>C (p.Cys3902Arg) c.7501T>C (p.Cys2501Arg) n.92+245A>G | gnomAD v4 |
| 9 | g.130433376T>G | CA375219238 | HMCN2 | c.14866T>G (p.Cys4956Gly) c.14923T>G (p.Cys4975Gly) n.3269T>G c.14863T>G (p.Cys4955Gly) c.14800T>G (p.Cys4934Gly) c.14791T>G (p.Cys4931Gly) c.14746T>G (p.Cys4916Gly) c.11704T>G (p.Cys3902Gly) c.7501T>G (p.Cys2501Gly) n.92+245A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433376T= | CA1881266195 | HMCN2 | c.14866T= (p.Cys4956=) c.14923T= (p.Cys4975=) n.3269T= c.14863T= (p.Cys4955=) c.14800T= (p.Cys4934=) c.14791T= (p.Cys4931=) c.14746T= (p.Cys4916=) c.11704T= (p.Cys3902=) c.7501T= (p.Cys2501=) n.92+245A= | |
| 9 | g.130433377G>A | CA375219244 | HMCN2 | c.14867G>A (p.Cys4956Tyr) c.14924G>A (p.Cys4975Tyr) n.3270G>A c.14864G>A (p.Cys4955Tyr) c.14801G>A (p.Cys4934Tyr) c.14792G>A (p.Cys4931Tyr) c.14747G>A (p.Cys4916Tyr) c.11705G>A (p.Cys3902Tyr) c.7502G>A (p.Cys2501Tyr) n.92+244C>T | |
| 9 | g.130433377G>C | CA375219242 | HMCN2 | c.14867G>C (p.Cys4956Ser) c.14924G>C (p.Cys4975Ser) n.3270G>C c.14864G>C (p.Cys4955Ser) c.14801G>C (p.Cys4934Ser) c.14792G>C (p.Cys4931Ser) c.14747G>C (p.Cys4916Ser) c.11705G>C (p.Cys3902Ser) c.7502G>C (p.Cys2501Ser) n.92+244C>G | |
| 9 | g.130433377G>T | CA375219240 | HMCN2 | c.14867G>T (p.Cys4956Phe) c.14924G>T (p.Cys4975Phe) n.3270G>T c.14864G>T (p.Cys4955Phe) c.14801G>T (p.Cys4934Phe) c.14792G>T (p.Cys4931Phe) c.14747G>T (p.Cys4916Phe) c.11705G>T (p.Cys3902Phe) c.7502G>T (p.Cys2501Phe) n.92+244C>A | |
| 9 | g.130433378C>A | CA375219245 | HMCN2 | c.14868C>A (p.Cys4956Ter) c.14925C>A (p.Cys4975Ter) n.3271C>A c.14865C>A (p.Cys4955Ter) c.14802C>A (p.Cys4934Ter) c.14793C>A (p.Cys4931Ter) c.14748C>A (p.Cys4916Ter) c.11706C>A (p.Cys3902Ter) c.7503C>A (p.Cys2501Ter) n.92+243G>T | gnomAD v4 |
| 9 | g.130433378C>G | CA375219247 | HMCN2 | c.14868C>G (p.Cys4956Trp) c.14925C>G (p.Cys4975Trp) n.3271C>G c.14865C>G (p.Cys4955Trp) c.14802C>G (p.Cys4934Trp) c.14793C>G (p.Cys4931Trp) c.14748C>G (p.Cys4916Trp) c.11706C>G (p.Cys3902Trp) c.7503C>G (p.Cys2501Trp) n.92+243G>C | |
| 9 | g.130433378C>T | CA467387191 | HMCN2 | c.14868C>T (p.Cys4956=) c.14925C>T (p.Cys4975=) n.3271C>T c.14865C>T (p.Cys4955=) c.14802C>T (p.Cys4934=) c.14793C>T (p.Cys4931=) c.14748C>T (p.Cys4916=) c.11706C>T (p.Cys3902=) c.7503C>T (p.Cys2501=) n.92+243G>A | gnomAD v4 |
| 9 | g.130433379G>A | CA5283043 | HMCN2 | c.14869G>A (p.Gly4957Ser) c.14926G>A (p.Gly4976Ser) n.3272G>A c.14866G>A (p.Gly4956Ser) c.14803G>A (p.Gly4935Ser) c.14794G>A (p.Gly4932Ser) c.14749G>A (p.Gly4917Ser) c.11707G>A (p.Gly3903Ser) c.7504G>A (p.Gly2502Ser) n.92+242C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433379G>C | CA375219250 | HMCN2 | c.14869G>C (p.Gly4957Arg) c.14926G>C (p.Gly4976Arg) n.3272G>C c.14866G>C (p.Gly4956Arg) c.14803G>C (p.Gly4935Arg) c.14794G>C (p.Gly4932Arg) c.14749G>C (p.Gly4917Arg) c.11707G>C (p.Gly3903Arg) c.7504G>C (p.Gly2502Arg) n.92+242C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433379G= | CA1881266198 | HMCN2 | c.14869G= (p.Gly4957=) c.14926G= (p.Gly4976=) n.3272G= c.14866G= (p.Gly4956=) c.14803G= (p.Gly4935=) c.14794G= (p.Gly4932=) c.14749G= (p.Gly4917=) c.11707G= (p.Gly3903=) c.7504G= (p.Gly2502=) n.92+242C= | |
| 9 | g.130433379G>T | CA5283042 | HMCN2 | c.14869G>T (p.Gly4957Cys) c.14926G>T (p.Gly4976Cys) n.3272G>T c.14866G>T (p.Gly4956Cys) c.14803G>T (p.Gly4935Cys) c.14794G>T (p.Gly4932Cys) c.14749G>T (p.Gly4917Cys) c.11707G>T (p.Gly3903Cys) c.7504G>T (p.Gly2502Cys) n.92+242C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433380G>A | CA375219253 | HMCN2 | c.14870G>A (p.Gly4957Asp) c.14927G>A (p.Gly4976Asp) n.3273G>A c.14867G>A (p.Gly4956Asp) c.14804G>A (p.Gly4935Asp) c.14795G>A (p.Gly4932Asp) c.14750G>A (p.Gly4917Asp) c.11708G>A (p.Gly3903Asp) c.7505G>A (p.Gly2502Asp) n.92+241C>T | gnomAD v4 |
| 9 | g.130433380G>C | CA375219255 | HMCN2 | c.14870G>C (p.Gly4957Ala) c.14927G>C (p.Gly4976Ala) n.3273G>C c.14867G>C (p.Gly4956Ala) c.14804G>C (p.Gly4935Ala) c.14795G>C (p.Gly4932Ala) c.14750G>C (p.Gly4917Ala) c.11708G>C (p.Gly3903Ala) c.7505G>C (p.Gly2502Ala) n.92+241C>G | gnomAD v4 |
| 9 | g.130433380G>T | CA375219256 | HMCN2 | c.14870G>T (p.Gly4957Val) c.14927G>T (p.Gly4976Val) n.3273G>T c.14867G>T (p.Gly4956Val) c.14804G>T (p.Gly4935Val) c.14795G>T (p.Gly4932Val) c.14750G>T (p.Gly4917Val) c.11708G>T (p.Gly3903Val) c.7505G>T (p.Gly2502Val) n.92+241C>A | gnomAD v4 |
| 9 | g.130433381C>A | CA467387192 | HMCN2 | c.14871C>A (p.Gly4957=) c.14928C>A (p.Gly4976=) n.3274C>A c.14868C>A (p.Gly4956=) c.14805C>A (p.Gly4935=) c.14796C>A (p.Gly4932=) c.14751C>A (p.Gly4917=) c.11709C>A (p.Gly3903=) c.7506C>A (p.Gly2502=) n.92+240G>T | gnomAD v4 |
| 9 | g.130433381C>G | CA467387193 | HMCN2 | c.14871C>G (p.Gly4957=) c.14928C>G (p.Gly4976=) n.3274C>G c.14868C>G (p.Gly4956=) c.14805C>G (p.Gly4935=) c.14796C>G (p.Gly4932=) c.14751C>G (p.Gly4917=) c.11709C>G (p.Gly3903=) c.7506C>G (p.Gly2502=) n.92+240G>C | |
| 9 | g.130433381C>T | CA467387194 | HMCN2 | c.14871C>T (p.Gly4957=) c.14928C>T (p.Gly4976=) n.3274C>T c.14868C>T (p.Gly4956=) c.14805C>T (p.Gly4935=) c.14796C>T (p.Gly4932=) c.14751C>T (p.Gly4917=) c.11709C>T (p.Gly3903=) c.7506C>T (p.Gly2502=) n.92+240G>A | gnomAD v4 |
| 9 | g.130433382A>C | CA375219258 | HMCN2 | c.14872A>C (p.Thr4958Pro) c.14929A>C (p.Thr4977Pro) n.3275A>C c.14869A>C (p.Thr4957Pro) c.14806A>C (p.Thr4936Pro) c.14797A>C (p.Thr4933Pro) c.14752A>C (p.Thr4918Pro) c.11710A>C (p.Thr3904Pro) c.7507A>C (p.Thr2503Pro) n.92+239T>G | |
| 9 | g.130433382A>G | CA375219260 | HMCN2 | c.14872A>G (p.Thr4958Ala) c.14929A>G (p.Thr4977Ala) n.3275A>G c.14869A>G (p.Thr4957Ala) c.14806A>G (p.Thr4936Ala) c.14797A>G (p.Thr4933Ala) c.14752A>G (p.Thr4918Ala) c.11710A>G (p.Thr3904Ala) c.7507A>G (p.Thr2503Ala) n.92+239T>C | |
| 9 | g.130433382A>T | CA375219262 | HMCN2 | c.14872A>T (p.Thr4958Ser) c.14929A>T (p.Thr4977Ser) n.3275A>T c.14869A>T (p.Thr4957Ser) c.14806A>T (p.Thr4936Ser) c.14797A>T (p.Thr4933Ser) c.14752A>T (p.Thr4918Ser) c.11710A>T (p.Thr3904Ser) c.7507A>T (p.Thr2503Ser) n.92+239T>A | gnomAD v4 |
| 9 | g.130433383C>A | CA375219264 | HMCN2 | c.14873C>A (p.Thr4958Lys) c.14930C>A (p.Thr4977Lys) n.3276C>A c.14870C>A (p.Thr4957Lys) c.14807C>A (p.Thr4936Lys) c.14798C>A (p.Thr4933Lys) c.14753C>A (p.Thr4918Lys) c.11711C>A (p.Thr3904Lys) c.7508C>A (p.Thr2503Lys) n.92+238G>T | gnomAD v4 |
| 9 | g.130433383C= | CA1881266203 | HMCN2 | c.14873C= (p.Thr4958=) c.14930C= (p.Thr4977=) n.3276C= c.14870C= (p.Thr4957=) c.14807C= (p.Thr4936=) c.14798C= (p.Thr4933=) c.14753C= (p.Thr4918=) c.11711C= (p.Thr3904=) c.7508C= (p.Thr2503=) n.92+238G= | |
| 9 | g.130433383C>G | CA375219266 | HMCN2 | c.14873C>G (p.Thr4958Arg) c.14930C>G (p.Thr4977Arg) n.3276C>G c.14870C>G (p.Thr4957Arg) c.14807C>G (p.Thr4936Arg) c.14798C>G (p.Thr4933Arg) c.14753C>G (p.Thr4918Arg) c.11711C>G (p.Thr3904Arg) c.7508C>G (p.Thr2503Arg) n.92+238G>C | gnomAD v4 |
| 9 | g.130433383C>T | CA5283044 | HMCN2 | c.14873C>T (p.Thr4958Met) c.14930C>T (p.Thr4977Met) n.3276C>T c.14870C>T (p.Thr4957Met) c.14807C>T (p.Thr4936Met) c.14798C>T (p.Thr4933Met) c.14753C>T (p.Thr4918Met) c.11711C>T (p.Thr3904Met) c.7508C>T (p.Thr2503Met) n.92+238G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130433384G>A | CA467387197 | HMCN2 | c.14874G>A (p.Thr4958=) c.14931G>A (p.Thr4977=) n.3277G>A c.14871G>A (p.Thr4957=) c.14808G>A (p.Thr4936=) c.14799G>A (p.Thr4933=) c.14754G>A (p.Thr4918=) c.11712G>A (p.Thr3904=) c.7509G>A (p.Thr2503=) n.92+237C>T | dbSNP gnomAD v4 |
| 9 | g.130433384G>C | CA467387196 | HMCN2 | c.14874G>C (p.Thr4958=) c.14931G>C (p.Thr4977=) n.3277G>C c.14871G>C (p.Thr4957=) c.14808G>C (p.Thr4936=) c.14799G>C (p.Thr4933=) c.14754G>C (p.Thr4918=) c.11712G>C (p.Thr3904=) c.7509G>C (p.Thr2503=) n.92+237C>G | gnomAD v4 |
| 9 | g.130433384G= | CA1881266209 | HMCN2 | c.14874G= (p.Thr4958=) c.14931G= (p.Thr4977=) n.3277G= c.14871G= (p.Thr4957=) c.14808G= (p.Thr4936=) c.14799G= (p.Thr4933=) c.14754G= (p.Thr4918=) c.11712G= (p.Thr3904=) c.7509G= (p.Thr2503=) n.92+237C= | |
| 9 | g.130433384G>T | CA5283045 | HMCN2 | c.14874G>T (p.Thr4958=) c.14931G>T (p.Thr4977=) n.3277G>T c.14871G>T (p.Thr4957=) c.14808G>T (p.Thr4936=) c.14799G>T (p.Thr4933=) c.14754G>T (p.Thr4918=) c.11712G>T (p.Thr3904=) c.7509G>T (p.Thr2503=) n.92+237C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433386del | CA2692135579 | HMCN2 | c.14876del (p.Gly4959AlafsTer?) c.14933del (p.Gly4978AlafsTer?) n.3279del c.14873del (p.Gly4958AlafsTer?) c.14810del (p.Gly4937AlafsTer?) c.14801del (p.Gly4934AlafsTer?) c.14756del (p.Gly4919AlafsTer?) c.11714del (p.Gly3905AlafsTer?) c.7511del (p.Gly2504AlafsTer?) n.92+237del | gnomAD v4 |
| 9 | g.130433385G>A | CA375219271 | HMCN2 | c.14875G>A (p.Gly4959Ser) c.14932G>A (p.Gly4978Ser) n.3278G>A c.14872G>A (p.Gly4958Ser) c.14809G>A (p.Gly4937Ser) c.14800G>A (p.Gly4934Ser) c.14755G>A (p.Gly4919Ser) c.11713G>A (p.Gly3905Ser) c.7510G>A (p.Gly2504Ser) n.92+236C>T | gnomAD v4 |
| 9 | g.130433385G>C | CA375219272 | HMCN2 | c.14875G>C (p.Gly4959Arg) c.14932G>C (p.Gly4978Arg) n.3278G>C c.14872G>C (p.Gly4958Arg) c.14809G>C (p.Gly4937Arg) c.14800G>C (p.Gly4934Arg) c.14755G>C (p.Gly4919Arg) c.11713G>C (p.Gly3905Arg) c.7510G>C (p.Gly2504Arg) n.92+236C>G | gnomAD v4 |
| 9 | g.130433385G>T | CA375219274 | HMCN2 | c.14875G>T (p.Gly4959Cys) c.14932G>T (p.Gly4978Cys) n.3278G>T c.14872G>T (p.Gly4958Cys) c.14809G>T (p.Gly4937Cys) c.14800G>T (p.Gly4934Cys) c.14755G>T (p.Gly4919Cys) c.11713G>T (p.Gly3905Cys) c.7510G>T (p.Gly2504Cys) n.92+236C>A | gnomAD v4 |
| 9 | g.130433386G>A | CA375219276 | HMCN2 | c.14876G>A (p.Gly4959Asp) c.14933G>A (p.Gly4978Asp) n.3279G>A c.14873G>A (p.Gly4958Asp) c.14810G>A (p.Gly4937Asp) c.14801G>A (p.Gly4934Asp) c.14756G>A (p.Gly4919Asp) c.11714G>A (p.Gly3905Asp) c.7511G>A (p.Gly2504Asp) n.92+235C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433386G>C | CA375219277 | HMCN2 | c.14876G>C (p.Gly4959Ala) c.14933G>C (p.Gly4978Ala) n.3279G>C c.14873G>C (p.Gly4958Ala) c.14810G>C (p.Gly4937Ala) c.14801G>C (p.Gly4934Ala) c.14756G>C (p.Gly4919Ala) c.11714G>C (p.Gly3905Ala) c.7511G>C (p.Gly2504Ala) n.92+235C>G | |
| 9 | g.130433386G= | CA1881266211 | HMCN2 | c.14876G= (p.Gly4959=) c.14933G= (p.Gly4978=) n.3279G= c.14873G= (p.Gly4958=) c.14810G= (p.Gly4937=) c.14801G= (p.Gly4934=) c.14756G= (p.Gly4919=) c.11714G= (p.Gly3905=) c.7511G= (p.Gly2504=) n.92+235C= | |
| 9 | g.130433386G>T | CA375219279 | HMCN2 | c.14876G>T (p.Gly4959Val) c.14933G>T (p.Gly4978Val) n.3279G>T c.14873G>T (p.Gly4958Val) c.14810G>T (p.Gly4937Val) c.14801G>T (p.Gly4934Val) c.14756G>T (p.Gly4919Val) c.11714G>T (p.Gly3905Val) c.7511G>T (p.Gly2504Val) n.92+235C>A | gnomAD v4 |
| 9 | g.130433387del | CA2692135580 | HMCN2 | c.14877del (p.Gly4960AlafsTer?) c.14934del (p.Gly4979AlafsTer?) n.3280del c.14874del (p.Gly4959AlafsTer?) c.14811del (p.Gly4938AlafsTer?) c.14802del (p.Gly4935AlafsTer?) c.14757del (p.Gly4920AlafsTer?) c.11715del (p.Gly3906AlafsTer?) c.7512del (p.Gly2505AlafsTer?) n.92+234del | gnomAD v4 |
| 9 | g.130433387C>A | CA467387200 | HMCN2 | c.14877C>A (p.Gly4959=) c.14934C>A (p.Gly4978=) n.3280C>A c.14874C>A (p.Gly4958=) c.14811C>A (p.Gly4937=) c.14802C>A (p.Gly4934=) c.14757C>A (p.Gly4919=) c.11715C>A (p.Gly3905=) c.7512C>A (p.Gly2504=) n.92+234G>T | gnomAD v4 |
| 9 | g.130433387C= | CA1881266215 | HMCN2 | c.14877C= (p.Gly4959=) c.14934C= (p.Gly4978=) n.3280C= c.14874C= (p.Gly4958=) c.14811C= (p.Gly4937=) c.14802C= (p.Gly4934=) c.14757C= (p.Gly4919=) c.11715C= (p.Gly3905=) c.7512C= (p.Gly2504=) n.92+234G= | |
| 9 | g.130433387C>G | CA467387202 | HMCN2 | c.14877C>G (p.Gly4959=) c.14934C>G (p.Gly4978=) n.3280C>G c.14874C>G (p.Gly4958=) c.14811C>G (p.Gly4937=) c.14802C>G (p.Gly4934=) c.14757C>G (p.Gly4919=) c.11715C>G (p.Gly3905=) c.7512C>G (p.Gly2504=) n.92+234G>C | gnomAD v4 |
| 9 | g.130433387C>T | CA467387203 | HMCN2 | c.14877C>T (p.Gly4959=) c.14934C>T (p.Gly4978=) n.3280C>T c.14874C>T (p.Gly4958=) c.14811C>T (p.Gly4937=) c.14802C>T (p.Gly4934=) c.14757C>T (p.Gly4919=) c.11715C>T (p.Gly3905=) c.7512C>T (p.Gly2504=) n.92+234G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433388G>A | CA375219281 | HMCN2 | c.14878G>A (p.Gly4960Ser) c.14935G>A (p.Gly4979Ser) n.3281G>A c.14875G>A (p.Gly4959Ser) c.14812G>A (p.Gly4938Ser) c.14803G>A (p.Gly4935Ser) c.14758G>A (p.Gly4920Ser) c.11716G>A (p.Gly3906Ser) c.7513G>A (p.Gly2505Ser) n.92+233C>T | gnomAD v4 |
| 9 | g.130433388G>C | CA375219283 | HMCN2 | c.14878G>C (p.Gly4960Arg) c.14935G>C (p.Gly4979Arg) n.3281G>C c.14875G>C (p.Gly4959Arg) c.14812G>C (p.Gly4938Arg) c.14803G>C (p.Gly4935Arg) c.14758G>C (p.Gly4920Arg) c.11716G>C (p.Gly3906Arg) c.7513G>C (p.Gly2505Arg) n.92+233C>G | |
| 9 | g.130433388G= | CA1881266217 | HMCN2 | c.14878G= (p.Gly4960=) c.14935G= (p.Gly4979=) n.3281G= c.14875G= (p.Gly4959=) c.14812G= (p.Gly4938=) c.14803G= (p.Gly4935=) c.14758G= (p.Gly4920=) c.11716G= (p.Gly3906=) c.7513G= (p.Gly2505=) n.92+233C= | |
| 9 | g.130433388G>T | CA375219284 | HMCN2 | c.14878G>T (p.Gly4960Cys) c.14935G>T (p.Gly4979Cys) n.3281G>T c.14875G>T (p.Gly4959Cys) c.14812G>T (p.Gly4938Cys) c.14803G>T (p.Gly4935Cys) c.14758G>T (p.Gly4920Cys) c.11716G>T (p.Gly3906Cys) c.7513G>T (p.Gly2505Cys) n.92+233C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433389G>A | CA375219286 | HMCN2 | c.14879G>A (p.Gly4960Asp) c.14936G>A (p.Gly4979Asp) n.3282G>A c.14876G>A (p.Gly4959Asp) c.14813G>A (p.Gly4938Asp) c.14804G>A (p.Gly4935Asp) c.14759G>A (p.Gly4920Asp) c.11717G>A (p.Gly3906Asp) c.7514G>A (p.Gly2505Asp) n.92+232C>T | gnomAD v4 |
| 9 | g.130433389G>C | CA375219288 | HMCN2 | c.14879G>C (p.Gly4960Ala) c.14936G>C (p.Gly4979Ala) n.3282G>C c.14876G>C (p.Gly4959Ala) c.14813G>C (p.Gly4938Ala) c.14804G>C (p.Gly4935Ala) c.14759G>C (p.Gly4920Ala) c.11717G>C (p.Gly3906Ala) c.7514G>C (p.Gly2505Ala) n.92+232C>G | dbSNP |
| 9 | g.130433389G= | CA1881266220 | HMCN2 | c.14879G= (p.Gly4960=) c.14936G= (p.Gly4979=) n.3282G= c.14876G= (p.Gly4959=) c.14813G= (p.Gly4938=) c.14804G= (p.Gly4935=) c.14759G= (p.Gly4920=) c.11717G= (p.Gly3906=) c.7514G= (p.Gly2505=) n.92+232C= | |
| 9 | g.130433389G>T | CA375219290 | HMCN2 | c.14879G>T (p.Gly4960Val) c.14936G>T (p.Gly4979Val) n.3282G>T c.14876G>T (p.Gly4959Val) c.14813G>T (p.Gly4938Val) c.14804G>T (p.Gly4935Val) c.14759G>T (p.Gly4920Val) c.11717G>T (p.Gly3906Val) c.7514G>T (p.Gly2505Val) n.92+232C>A | gnomAD v4 |
| 9 | g.130433390C>A | CA467387204 | HMCN2 | c.14880C>A (p.Gly4960=) c.14937C>A (p.Gly4979=) n.3283C>A c.14877C>A (p.Gly4959=) c.14814C>A (p.Gly4938=) c.14805C>A (p.Gly4935=) c.14760C>A (p.Gly4920=) c.11718C>A (p.Gly3906=) c.7515C>A (p.Gly2505=) n.92+231G>T | |
| 9 | g.130433390C= | CA1881266222 | HMCN2 | c.14880C= (p.Gly4960=) c.14937C= (p.Gly4979=) n.3283C= c.14877C= (p.Gly4959=) c.14814C= (p.Gly4938=) c.14805C= (p.Gly4935=) c.14760C= (p.Gly4920=) c.11718C= (p.Gly3906=) c.7515C= (p.Gly2505=) n.92+231G= | |
| 9 | g.130433390C>G | CA467387206 | HMCN2 | c.14880C>G (p.Gly4960=) c.14937C>G (p.Gly4979=) n.3283C>G c.14877C>G (p.Gly4959=) c.14814C>G (p.Gly4938=) c.14805C>G (p.Gly4935=) c.14760C>G (p.Gly4920=) c.11718C>G (p.Gly3906=) c.7515C>G (p.Gly2505=) n.92+231G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433390C>T | CA467387205 | HMCN2 | c.14880C>T (p.Gly4960=) c.14937C>T (p.Gly4979=) n.3283C>T c.14877C>T (p.Gly4959=) c.14814C>T (p.Gly4938=) c.14805C>T (p.Gly4935=) c.14760C>T (p.Gly4920=) c.11718C>T (p.Gly3906=) c.7515C>T (p.Gly2505=) n.92+231G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433393dup | CA2786081121 | HMCN2 | c.14883dup (p.Ser4962LeufsTer?) c.14940dup (p.Ser4981LeufsTer?) n.3286dup c.14880dup (p.Ser4961LeufsTer?) c.14817dup (p.Ser4940LeufsTer?) c.14808dup (p.Ser4937LeufsTer?) c.14763dup (p.Ser4922LeufsTer?) c.11721dup (p.Ser3908LeufsTer?) c.7518dup (p.Ser2507LeufsTer?) n.92+231dup | |
| 9 | g.130433393del | CA2692135581 | HMCN2 | c.14883del (p.Ser4962LeufsTer?) c.14940del (p.Ser4981LeufsTer?) n.3286del c.14880del (p.Ser4961LeufsTer?) c.14817del (p.Ser4940LeufsTer?) c.14808del (p.Ser4937LeufsTer?) c.14763del (p.Ser4922LeufsTer?) c.11721del (p.Ser3908LeufsTer?) c.7518del (p.Ser2507LeufsTer?) n.92+231del | gnomAD v4 |
| 9 | g.130433391C>A | CA375219295 | HMCN2 | c.14881C>A (p.Pro4961Thr) c.14938C>A (p.Pro4980Thr) n.3284C>A c.14878C>A (p.Pro4960Thr) c.14815C>A (p.Pro4939Thr) c.14806C>A (p.Pro4936Thr) c.14761C>A (p.Pro4921Thr) c.11719C>A (p.Pro3907Thr) c.7516C>A (p.Pro2506Thr) n.92+230G>T | gnomAD v4 |
| 9 | g.130433391C= | CA1881266226 | HMCN2 | c.14881C= (p.Pro4961=) c.14938C= (p.Pro4980=) n.3284C= c.14878C= (p.Pro4960=) c.14815C= (p.Pro4939=) c.14806C= (p.Pro4936=) c.14761C= (p.Pro4921=) c.11719C= (p.Pro3907=) c.7516C= (p.Pro2506=) n.92+230G= | |
| 9 | g.130433391C>G | CA375219293 | HMCN2 | c.14881C>G (p.Pro4961Ala) c.14938C>G (p.Pro4980Ala) n.3284C>G c.14878C>G (p.Pro4960Ala) c.14815C>G (p.Pro4939Ala) c.14806C>G (p.Pro4936Ala) c.14761C>G (p.Pro4921Ala) c.11719C>G (p.Pro3907Ala) c.7516C>G (p.Pro2506Ala) n.92+230G>C | |
| 9 | g.130433391C>T | CA200583067 | HMCN2 | c.14881C>T (p.Pro4961Ser) c.14938C>T (p.Pro4980Ser) n.3284C>T c.14878C>T (p.Pro4960Ser) c.14815C>T (p.Pro4939Ser) c.14806C>T (p.Pro4936Ser) c.14761C>T (p.Pro4921Ser) c.11719C>T (p.Pro3907Ser) c.7516C>T (p.Pro2506Ser) n.92+230G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433392C>A | CA375219298 | HMCN2 | c.14882C>A (p.Pro4961His) c.14939C>A (p.Pro4980His) n.3285C>A c.14879C>A (p.Pro4960His) c.14816C>A (p.Pro4939His) c.14807C>A (p.Pro4936His) c.14762C>A (p.Pro4921His) c.11720C>A (p.Pro3907His) c.7517C>A (p.Pro2506His) n.92+229G>T | gnomAD v4 |
| 9 | g.130433392C= | CA1881266229 | HMCN2 | c.14882C= (p.Pro4961=) c.14939C= (p.Pro4980=) n.3285C= c.14879C= (p.Pro4960=) c.14816C= (p.Pro4939=) c.14807C= (p.Pro4936=) c.14762C= (p.Pro4921=) c.11720C= (p.Pro3907=) c.7517C= (p.Pro2506=) n.92+229G= | |
| 9 | g.130433392C>G | CA200583078 | HMCN2 | c.14882C>G (p.Pro4961Arg) c.14939C>G (p.Pro4980Arg) n.3285C>G c.14879C>G (p.Pro4960Arg) c.14816C>G (p.Pro4939Arg) c.14807C>G (p.Pro4936Arg) c.14762C>G (p.Pro4921Arg) c.11720C>G (p.Pro3907Arg) c.7517C>G (p.Pro2506Arg) n.92+229G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433392C>T | CA375219299 | HMCN2 | c.14882C>T (p.Pro4961Leu) c.14939C>T (p.Pro4980Leu) n.3285C>T c.14879C>T (p.Pro4960Leu) c.14816C>T (p.Pro4939Leu) c.14807C>T (p.Pro4936Leu) c.14762C>T (p.Pro4921Leu) c.11720C>T (p.Pro3907Leu) c.7517C>T (p.Pro2506Leu) n.92+229G>A | gnomAD v4 |
| 9 | g.130433393C>A | CA200583081 | HMCN2 | c.14883C>A (p.Pro4961=) c.14940C>A (p.Pro4980=) n.3286C>A c.14880C>A (p.Pro4960=) c.14817C>A (p.Pro4939=) c.14808C>A (p.Pro4936=) c.14763C>A (p.Pro4921=) c.11721C>A (p.Pro3907=) c.7518C>A (p.Pro2506=) n.92+228G>T | dbSNP gnomAD v4 |
| 9 | g.130433393C= | CA1881266234 | HMCN2 | c.14883C= (p.Pro4961=) c.14940C= (p.Pro4980=) n.3286C= c.14880C= (p.Pro4960=) c.14817C= (p.Pro4939=) c.14808C= (p.Pro4936=) c.14763C= (p.Pro4921=) c.11721C= (p.Pro3907=) c.7518C= (p.Pro2506=) n.92+228G= | |
| 9 | g.130433393C>G | CA467387208 | HMCN2 | c.14883C>G (p.Pro4961=) c.14940C>G (p.Pro4980=) n.3286C>G c.14880C>G (p.Pro4960=) c.14817C>G (p.Pro4939=) c.14808C>G (p.Pro4936=) c.14763C>G (p.Pro4921=) c.11721C>G (p.Pro3907=) c.7518C>G (p.Pro2506=) n.92+228G>C | gnomAD v4 |
| 9 | g.130433393C>T | CA5283046 | HMCN2 | c.14883C>T (p.Pro4961=) c.14940C>T (p.Pro4980=) n.3286C>T c.14880C>T (p.Pro4960=) c.14817C>T (p.Pro4939=) c.14808C>T (p.Pro4936=) c.14763C>T (p.Pro4921=) c.11721C>T (p.Pro3907=) c.7518C>T (p.Pro2506=) n.92+228G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130433394T>A | CA375219304 | HMCN2 | c.14884T>A (p.Ser4962Thr) c.14941T>A (p.Ser4981Thr) n.3287T>A c.14881T>A (p.Ser4961Thr) c.14818T>A (p.Ser4940Thr) c.14809T>A (p.Ser4937Thr) c.14764T>A (p.Ser4922Thr) c.11722T>A (p.Ser3908Thr) c.7519T>A (p.Ser2507Thr) n.92+227A>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433394T>C | CA375219308 | HMCN2 | c.14884T>C (p.Ser4962Pro) c.14941T>C (p.Ser4981Pro) n.3287T>C c.14881T>C (p.Ser4961Pro) c.14818T>C (p.Ser4940Pro) c.14809T>C (p.Ser4937Pro) c.14764T>C (p.Ser4922Pro) c.11722T>C (p.Ser3908Pro) c.7519T>C (p.Ser2507Pro) n.92+227A>G | |
| 9 | g.130433394T>G | CA375219306 | HMCN2 | c.14884T>G (p.Ser4962Ala) c.14941T>G (p.Ser4981Ala) n.3287T>G c.14881T>G (p.Ser4961Ala) c.14818T>G (p.Ser4940Ala) c.14809T>G (p.Ser4937Ala) c.14764T>G (p.Ser4922Ala) c.11722T>G (p.Ser3908Ala) c.7519T>G (p.Ser2507Ala) n.92+227A>C | |
| 9 | g.130433394T= | CA1881266237 | HMCN2 | c.14884T= (p.Ser4962=) c.14941T= (p.Ser4981=) n.3287T= c.14881T= (p.Ser4961=) c.14818T= (p.Ser4940=) c.14809T= (p.Ser4937=) c.14764T= (p.Ser4922=) c.11722T= (p.Ser3908=) c.7519T= (p.Ser2507=) n.92+227A= | |
| 9 | g.130433395C>A | CA375219311 | HMCN2 | c.14885C>A (p.Ser4962Tyr) c.14942C>A (p.Ser4981Tyr) n.3288C>A c.14882C>A (p.Ser4961Tyr) c.14819C>A (p.Ser4940Tyr) c.14810C>A (p.Ser4937Tyr) c.14765C>A (p.Ser4922Tyr) c.11723C>A (p.Ser3908Tyr) c.7520C>A (p.Ser2507Tyr) n.92+226G>T | |
| 9 | g.130433395C= | CA1881266242 | HMCN2 | c.14885C= (p.Ser4962=) c.14942C= (p.Ser4981=) n.3288C= c.14882C= (p.Ser4961=) c.14819C= (p.Ser4940=) c.14810C= (p.Ser4937=) c.14765C= (p.Ser4922=) c.11723C= (p.Ser3908=) c.7520C= (p.Ser2507=) n.92+226G= | |
| 9 | g.130433395C>G | CA375219313 | HMCN2 | c.14885C>G (p.Ser4962Cys) c.14942C>G (p.Ser4981Cys) n.3288C>G c.14882C>G (p.Ser4961Cys) c.14819C>G (p.Ser4940Cys) c.14810C>G (p.Ser4937Cys) c.14765C>G (p.Ser4922Cys) c.11723C>G (p.Ser3908Cys) c.7520C>G (p.Ser2507Cys) n.92+226G>C | |
| 9 | g.130433395C>T | CA375219314 | HMCN2 | c.14885C>T (p.Ser4962Phe) c.14942C>T (p.Ser4981Phe) n.3288C>T c.14882C>T (p.Ser4961Phe) c.14819C>T (p.Ser4940Phe) c.14810C>T (p.Ser4937Phe) c.14765C>T (p.Ser4922Phe) c.11723C>T (p.Ser3908Phe) c.7520C>T (p.Ser2507Phe) n.92+226G>A | dbSNP gnomAD v4 |
| 9 | g.130433396T>A | CA467387209 | HMCN2 | c.14886T>A (p.Ser4962=) c.14943T>A (p.Ser4981=) n.3289T>A c.14883T>A (p.Ser4961=) c.14820T>A (p.Ser4940=) c.14811T>A (p.Ser4937=) c.14766T>A (p.Ser4922=) c.11724T>A (p.Ser3908=) c.7521T>A (p.Ser2507=) n.92+225A>T | |
| 9 | g.130433396T>C | CA5283047 | HMCN2 | c.14886T>C (p.Ser4962=) c.14943T>C (p.Ser4981=) n.3289T>C c.14883T>C (p.Ser4961=) c.14820T>C (p.Ser4940=) c.14811T>C (p.Ser4937=) c.14766T>C (p.Ser4922=) c.11724T>C (p.Ser3908=) c.7521T>C (p.Ser2507=) n.92+225A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130433396T>G | CA467387210 | HMCN2 | c.14886T>G (p.Ser4962=) c.14943T>G (p.Ser4981=) n.3289T>G c.14883T>G (p.Ser4961=) c.14820T>G (p.Ser4940=) c.14811T>G (p.Ser4937=) c.14766T>G (p.Ser4922=) c.11724T>G (p.Ser3908=) c.7521T>G (p.Ser2507=) n.92+225A>C | |
| 9 | g.130433396T= | CA1881266245 | HMCN2 | c.14886T= (p.Ser4962=) c.14943T= (p.Ser4981=) n.3289T= c.14883T= (p.Ser4961=) c.14820T= (p.Ser4940=) c.14811T= (p.Ser4937=) c.14766T= (p.Ser4922=) c.11724T= (p.Ser3908=) c.7521T= (p.Ser2507=) n.92+225A= | |
| 9 | g.130433397A>C | CA375219317 | HMCN2 | c.14887A>C (p.Thr4963Pro) c.14944A>C (p.Thr4982Pro) n.3290A>C c.14884A>C (p.Thr4962Pro) c.14821A>C (p.Thr4941Pro) c.14812A>C (p.Thr4938Pro) c.14767A>C (p.Thr4923Pro) c.11725A>C (p.Thr3909Pro) c.7522A>C (p.Thr2508Pro) n.92+224T>G | |
| 9 | g.130433397A>G | CA375219319 | HMCN2 | c.14887A>G (p.Thr4963Ala) c.14944A>G (p.Thr4982Ala) n.3290A>G c.14884A>G (p.Thr4962Ala) c.14821A>G (p.Thr4941Ala) c.14812A>G (p.Thr4938Ala) c.14767A>G (p.Thr4923Ala) c.11725A>G (p.Thr3909Ala) c.7522A>G (p.Thr2508Ala) n.92+224T>C | gnomAD v4 |
| 9 | g.130433397A>T | CA375219321 | HMCN2 | c.14887A>T (p.Thr4963Ser) c.14944A>T (p.Thr4982Ser) n.3290A>T c.14884A>T (p.Thr4962Ser) c.14821A>T (p.Thr4941Ser) c.14812A>T (p.Thr4938Ser) c.14767A>T (p.Thr4923Ser) c.11725A>T (p.Thr3909Ser) c.7522A>T (p.Thr2508Ser) n.92+224T>A | |
| 9 | g.130433398C>A | CA375219327 | HMCN2 | c.14888C>A (p.Thr4963Lys) c.14945C>A (p.Thr4982Lys) n.3291C>A c.14885C>A (p.Thr4962Lys) c.14822C>A (p.Thr4941Lys) c.14813C>A (p.Thr4938Lys) c.14768C>A (p.Thr4923Lys) c.11726C>A (p.Thr3909Lys) c.7523C>A (p.Thr2508Lys) n.92+223G>T | gnomAD v4 |
| 9 | g.130433398C= | CA1881266247 | HMCN2 | c.14888C= (p.Thr4963=) c.14945C= (p.Thr4982=) n.3291C= c.14885C= (p.Thr4962=) c.14822C= (p.Thr4941=) c.14813C= (p.Thr4938=) c.14768C= (p.Thr4923=) c.11726C= (p.Thr3909=) c.7523C= (p.Thr2508=) n.92+223G= | |
| 9 | g.130433398C>G | CA375219329 | HMCN2 | c.14888C>G (p.Thr4963Arg) c.14945C>G (p.Thr4982Arg) n.3291C>G c.14885C>G (p.Thr4962Arg) c.14822C>G (p.Thr4941Arg) c.14813C>G (p.Thr4938Arg) c.14768C>G (p.Thr4923Arg) c.11726C>G (p.Thr3909Arg) c.7523C>G (p.Thr2508Arg) n.92+223G>C | |
| 9 | g.130433398C>T | CA375219331 | HMCN2 | c.14888C>T (p.Thr4963Met) c.14945C>T (p.Thr4982Met) n.3291C>T c.14885C>T (p.Thr4962Met) c.14822C>T (p.Thr4941Met) c.14813C>T (p.Thr4938Met) c.14768C>T (p.Thr4923Met) c.11726C>T (p.Thr3909Met) c.7523C>T (p.Thr2508Met) n.92+223G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433399G>A | CA467387211 | HMCN2 | c.14889G>A (p.Thr4963=) c.14946G>A (p.Thr4982=) n.3292G>A c.14886G>A (p.Thr4962=) c.14823G>A (p.Thr4941=) c.14814G>A (p.Thr4938=) c.14769G>A (p.Thr4923=) c.11727G>A (p.Thr3909=) c.7524G>A (p.Thr2508=) n.92+222C>T | dbSNP gnomAD v4 |
| 9 | g.130433399G>C | CA200583116 | HMCN2 | c.14889G>C (p.Thr4963=) c.14946G>C (p.Thr4982=) n.3292G>C c.14886G>C (p.Thr4962=) c.14823G>C (p.Thr4941=) c.14814G>C (p.Thr4938=) c.14769G>C (p.Thr4923=) c.11727G>C (p.Thr3909=) c.7524G>C (p.Thr2508=) n.92+222C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433399G= | CA1881266249 | HMCN2 | c.14889G= (p.Thr4963=) c.14946G= (p.Thr4982=) n.3292G= c.14886G= (p.Thr4962=) c.14823G= (p.Thr4941=) c.14814G= (p.Thr4938=) c.14769G= (p.Thr4923=) c.11727G= (p.Thr3909=) c.7524G= (p.Thr2508=) n.92+222C= | |
| 9 | g.130433399G>T | CA5283048 | HMCN2 | c.14889G>T (p.Thr4963=) c.14946G>T (p.Thr4982=) n.3292G>T c.14886G>T (p.Thr4962=) c.14823G>T (p.Thr4941=) c.14814G>T (p.Thr4938=) c.14769G>T (p.Thr4923=) c.11727G>T (p.Thr3909=) c.7524G>T (p.Thr2508=) n.92+222C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433400C>A | CA375219337 | HMCN2 | c.14890C>A (p.Leu4964Met) c.14947C>A (p.Leu4983Met) n.3293C>A c.14887C>A (p.Leu4963Met) c.14824C>A (p.Leu4942Met) c.14815C>A (p.Leu4939Met) c.14770C>A (p.Leu4924Met) c.11728C>A (p.Leu3910Met) c.7525C>A (p.Leu2509Met) n.92+221G>T | gnomAD v4 |
| 9 | g.130433400C= | CA1881266253 | HMCN2 | c.14890C= (p.Leu4964=) c.14947C= (p.Leu4983=) n.3293C= c.14887C= (p.Leu4963=) c.14824C= (p.Leu4942=) c.14815C= (p.Leu4939=) c.14770C= (p.Leu4924=) c.11728C= (p.Leu3910=) c.7525C= (p.Leu2509=) n.92+221G= | |
| 9 | g.130433400C>G | CA375219335 | HMCN2 | c.14890C>G (p.Leu4964Val) c.14947C>G (p.Leu4983Val) n.3293C>G c.14887C>G (p.Leu4963Val) c.14824C>G (p.Leu4942Val) c.14815C>G (p.Leu4939Val) c.14770C>G (p.Leu4924Val) c.11728C>G (p.Leu3910Val) c.7525C>G (p.Leu2509Val) n.92+221G>C | |
| 9 | g.130433400C>T | CA467387212 | HMCN2 | c.14890C>T (p.Leu4964=) c.14947C>T (p.Leu4983=) n.3293C>T c.14887C>T (p.Leu4963=) c.14824C>T (p.Leu4942=) c.14815C>T (p.Leu4939=) c.14770C>T (p.Leu4924=) c.11728C>T (p.Leu3910=) c.7525C>T (p.Leu2509=) n.92+221G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433401T>A | CA375219340 | HMCN2 | c.14891T>A (p.Leu4964Gln) c.14948T>A (p.Leu4983Gln) n.3294T>A c.14888T>A (p.Leu4963Gln) c.14825T>A (p.Leu4942Gln) c.14816T>A (p.Leu4939Gln) c.14771T>A (p.Leu4924Gln) c.11729T>A (p.Leu3910Gln) c.7526T>A (p.Leu2509Gln) n.92+220A>T | |
| 9 | g.130433401T>C | CA375219341 | HMCN2 | c.14891T>C (p.Leu4964Pro) c.14948T>C (p.Leu4983Pro) n.3294T>C c.14888T>C (p.Leu4963Pro) c.14825T>C (p.Leu4942Pro) c.14816T>C (p.Leu4939Pro) c.14771T>C (p.Leu4924Pro) c.11729T>C (p.Leu3910Pro) c.7526T>C (p.Leu2509Pro) n.92+220A>G | gnomAD v4 |
| 9 | g.130433401T>G | CA375219343 | HMCN2 | c.14891T>G (p.Leu4964Arg) c.14948T>G (p.Leu4983Arg) n.3294T>G c.14888T>G (p.Leu4963Arg) c.14825T>G (p.Leu4942Arg) c.14816T>G (p.Leu4939Arg) c.14771T>G (p.Leu4924Arg) c.11729T>G (p.Leu3910Arg) c.7526T>G (p.Leu2509Arg) n.92+220A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433401T= | CA1881266255 | HMCN2 | c.14891T= (p.Leu4964=) c.14948T= (p.Leu4983=) n.3294T= c.14888T= (p.Leu4963=) c.14825T= (p.Leu4942=) c.14816T= (p.Leu4939=) c.14771T= (p.Leu4924=) c.11729T= (p.Leu3910=) c.7526T= (p.Leu2509=) n.92+220A= | |
| 9 | g.130433402G>A | CA467387213 | HMCN2 | c.14892G>A (p.Leu4964=) c.14949G>A (p.Leu4983=) n.3295G>A c.14889G>A (p.Leu4963=) c.14826G>A (p.Leu4942=) c.14817G>A (p.Leu4939=) c.14772G>A (p.Leu4924=) c.11730G>A (p.Leu3910=) c.7527G>A (p.Leu2509=) n.92+219C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433402G>C | CA467387214 | HMCN2 | c.14892G>C (p.Leu4964=) c.14949G>C (p.Leu4983=) n.3295G>C c.14889G>C (p.Leu4963=) c.14826G>C (p.Leu4942=) c.14817G>C (p.Leu4939=) c.14772G>C (p.Leu4924=) c.11730G>C (p.Leu3910=) c.7527G>C (p.Leu2509=) n.92+219C>G | |
| 9 | g.130433402G= | CA1881266257 | HMCN2 | c.14892G= (p.Leu4964=) c.14949G= (p.Leu4983=) n.3295G= c.14889G= (p.Leu4963=) c.14826G= (p.Leu4942=) c.14817G= (p.Leu4939=) c.14772G= (p.Leu4924=) c.11730G= (p.Leu3910=) c.7527G= (p.Leu2509=) n.92+219C= | |
| 9 | g.130433402G>T | CA467387215 | HMCN2 | c.14892G>T (p.Leu4964=) c.14949G>T (p.Leu4983=) n.3295G>T c.14889G>T (p.Leu4963=) c.14826G>T (p.Leu4942=) c.14817G>T (p.Leu4939=) c.14772G>T (p.Leu4924=) c.11730G>T (p.Leu3910=) c.7527G>T (p.Leu2509=) n.92+219C>A | |
| 9 | g.130433403C>A | CA375219345 | HMCN2 | c.14893C>A (p.Gln4965Lys) c.14950C>A (p.Gln4984Lys) n.3296C>A c.14890C>A (p.Gln4964Lys) c.14827C>A (p.Gln4943Lys) c.14818C>A (p.Gln4940Lys) c.14773C>A (p.Gln4925Lys) c.11731C>A (p.Gln3911Lys) c.7528C>A (p.Gln2510Lys) n.92+218G>T | gnomAD v4 |
| 9 | g.130433403C>G | CA375219347 | HMCN2 | c.14893C>G (p.Gln4965Glu) c.14950C>G (p.Gln4984Glu) n.3296C>G c.14890C>G (p.Gln4964Glu) c.14827C>G (p.Gln4943Glu) c.14818C>G (p.Gln4940Glu) c.14773C>G (p.Gln4925Glu) c.11731C>G (p.Gln3911Glu) c.7528C>G (p.Gln2510Glu) n.92+218G>C | |
| 9 | g.130433403C>T | CA375219349 | HMCN2 | c.14893C>T (p.Gln4965Ter) c.14950C>T (p.Gln4984Ter) n.3296C>T c.14890C>T (p.Gln4964Ter) c.14827C>T (p.Gln4943Ter) c.14818C>T (p.Gln4940Ter) c.14773C>T (p.Gln4925Ter) c.11731C>T (p.Gln3911Ter) c.7528C>T (p.Gln2510Ter) n.92+218G>A | gnomAD v4 |
| 9 | g.130433404A= | CA1881266262 | HMCN2 | c.14894A= (p.Gln4965=) c.14951A= (p.Gln4984=) n.3297A= c.14891A= (p.Gln4964=) c.14828A= (p.Gln4943=) c.14819A= (p.Gln4940=) c.14774A= (p.Gln4925=) c.11732A= (p.Gln3911=) c.7529A= (p.Gln2510=) n.92+217T= | |
| 9 | g.130433404A>C | CA375219351 | HMCN2 | c.14894A>C (p.Gln4965Pro) c.14951A>C (p.Gln4984Pro) n.3297A>C c.14891A>C (p.Gln4964Pro) c.14828A>C (p.Gln4943Pro) c.14819A>C (p.Gln4940Pro) c.14774A>C (p.Gln4925Pro) c.11732A>C (p.Gln3911Pro) c.7529A>C (p.Gln2510Pro) n.92+217T>G | dbSNP gnomAD v4 |
| 9 | g.130433404A>G | CA375219353 | HMCN2 | c.14894A>G (p.Gln4965Arg) c.14951A>G (p.Gln4984Arg) n.3297A>G c.14891A>G (p.Gln4964Arg) c.14828A>G (p.Gln4943Arg) c.14819A>G (p.Gln4940Arg) c.14774A>G (p.Gln4925Arg) c.11732A>G (p.Gln3911Arg) c.7529A>G (p.Gln2510Arg) n.92+217T>C | |
| 9 | g.130433404A>T | CA375219354 | HMCN2 | c.14894A>T (p.Gln4965Leu) c.14951A>T (p.Gln4984Leu) n.3297A>T c.14891A>T (p.Gln4964Leu) c.14828A>T (p.Gln4943Leu) c.14819A>T (p.Gln4940Leu) c.14774A>T (p.Gln4925Leu) c.11732A>T (p.Gln3911Leu) c.7529A>T (p.Gln2510Leu) n.92+217T>A | |
| 9 | g.130433405_130433407del | CA2692135582 | HMCN2 | c.14895_14897del (p.Gln4965_Tyr4966delinsHis) c.14952_14954del (p.Gln4984_Tyr4985delinsHis) n.3298_3300del c.14892_14894del (p.Gln4964_Tyr4965delinsHis) c.14829_14831del (p.Gln4943_Tyr4944delinsHis) c.14820_14822del (p.Gln4940_Tyr4941delinsHis) c.14775_14777del (p.Gln4925_Tyr4926delinsHis) c.11733_11735del (p.Gln3911_Tyr3912delinsHis) c.7530_7532del (p.Gln2510_Tyr2511delinsHis) n.92+215_92+217del | gnomAD v4 |
| 9 | g.130433405G>A | CA467387216 | HMCN2 | c.14895G>A (p.Gln4965=) c.14952G>A (p.Gln4984=) n.3298G>A c.14892G>A (p.Gln4964=) c.14829G>A (p.Gln4943=) c.14820G>A (p.Gln4940=) c.14775G>A (p.Gln4925=) c.11733G>A (p.Gln3911=) c.7530G>A (p.Gln2510=) n.92+216C>T | gnomAD v4 |
| 9 | g.130433405G>C | CA375219356 | HMCN2 | c.14895G>C (p.Gln4965His) c.14952G>C (p.Gln4984His) n.3298G>C c.14892G>C (p.Gln4964His) c.14829G>C (p.Gln4943His) c.14820G>C (p.Gln4940His) c.14775G>C (p.Gln4925His) c.11733G>C (p.Gln3911His) c.7530G>C (p.Gln2510His) n.92+216C>G | |
| 9 | g.130433405G>T | CA375219357 | HMCN2 | c.14895G>T (p.Gln4965His) c.14952G>T (p.Gln4984His) n.3298G>T c.14892G>T (p.Gln4964His) c.14829G>T (p.Gln4943His) c.14820G>T (p.Gln4940His) c.14775G>T (p.Gln4925His) c.11733G>T (p.Gln3911His) c.7530G>T (p.Gln2510His) n.92+216C>A | |
| 9 | g.130433406_130433420dup | CA590945145 | HMCN2 | c.14896_14910dup (p.Pro4970_Leu4971insTyrArgLeuLeuPro) c.14953_14967dup (p.Pro4989_Leu4990insTyrArgLeuLeuPro) n.3299_3313dup c.14893_14907dup (p.Pro4969_Leu4970insTyrArgLeuLeuPro) c.14830_14844dup (p.Pro4948_Leu4949insTyrArgLeuLeuPro) c.14821_14835dup (p.Pro4945_Leu4946insTyrArgLeuLeuPro) c.14776_14790dup (p.Pro4930_Leu4931insTyrArgLeuLeuPro) c.11734_11748dup (p.Pro3916_Leu3917insTyrArgLeuLeuPro) c.7531_7545dup (p.Pro2515_Leu2516insTyrArgLeuLeuPro) n.92+202_92+216dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433406T>A | CA375219359 | HMCN2 | c.14896T>A (p.Tyr4966Asn) c.14953T>A (p.Tyr4985Asn) n.3299T>A c.14893T>A (p.Tyr4965Asn) c.14830T>A (p.Tyr4944Asn) c.14821T>A (p.Tyr4941Asn) c.14776T>A (p.Tyr4926Asn) c.11734T>A (p.Tyr3912Asn) c.7531T>A (p.Tyr2511Asn) n.92+215A>T | |
| 9 | g.130433406T>C | CA375219362 | HMCN2 | c.14896T>C (p.Tyr4966His) c.14953T>C (p.Tyr4985His) n.3299T>C c.14893T>C (p.Tyr4965His) c.14830T>C (p.Tyr4944His) c.14821T>C (p.Tyr4941His) c.14776T>C (p.Tyr4926His) c.11734T>C (p.Tyr3912His) c.7531T>C (p.Tyr2511His) n.92+215A>G | |
| 9 | g.130433406T>G | CA375219358 | HMCN2 | c.14896T>G (p.Tyr4966Asp) c.14953T>G (p.Tyr4985Asp) n.3299T>G c.14893T>G (p.Tyr4965Asp) c.14830T>G (p.Tyr4944Asp) c.14821T>G (p.Tyr4941Asp) c.14776T>G (p.Tyr4926Asp) c.11734T>G (p.Tyr3912Asp) c.7531T>G (p.Tyr2511Asp) n.92+215A>C | |
| 9 | g.130433407A>C | CA375219364 | HMCN2 | c.14897A>C (p.Tyr4966Ser) c.14954A>C (p.Tyr4985Ser) n.3300A>C c.14894A>C (p.Tyr4965Ser) c.14831A>C (p.Tyr4944Ser) c.14822A>C (p.Tyr4941Ser) c.14777A>C (p.Tyr4926Ser) c.11735A>C (p.Tyr3912Ser) c.7532A>C (p.Tyr2511Ser) n.92+214T>G | |
| 9 | g.130433407A>G | CA375219368 | HMCN2 | c.14897A>G (p.Tyr4966Cys) c.14954A>G (p.Tyr4985Cys) n.3300A>G c.14894A>G (p.Tyr4965Cys) c.14831A>G (p.Tyr4944Cys) c.14822A>G (p.Tyr4941Cys) c.14777A>G (p.Tyr4926Cys) c.11735A>G (p.Tyr3912Cys) c.7532A>G (p.Tyr2511Cys) n.92+214T>C | gnomAD v4 |
| 9 | g.130433407A>T | CA375219370 | HMCN2 | c.14897A>T (p.Tyr4966Phe) c.14954A>T (p.Tyr4985Phe) n.3300A>T c.14894A>T (p.Tyr4965Phe) c.14831A>T (p.Tyr4944Phe) c.14822A>T (p.Tyr4941Phe) c.14777A>T (p.Tyr4926Phe) c.11735A>T (p.Tyr3912Phe) c.7532A>T (p.Tyr2511Phe) n.92+214T>A | |
| 9 | g.130433408C>A | CA375219372 | HMCN2 | c.14898C>A (p.Tyr4966Ter) c.14955C>A (p.Tyr4985Ter) n.3301C>A c.14895C>A (p.Tyr4965Ter) c.14832C>A (p.Tyr4944Ter) c.14823C>A (p.Tyr4941Ter) c.14778C>A (p.Tyr4926Ter) c.11736C>A (p.Tyr3912Ter) c.7533C>A (p.Tyr2511Ter) n.92+213G>T | gnomAD v4 |
| 9 | g.130433408C= | CA1881266269 | HMCN2 | c.14898C= (p.Tyr4966=) c.14955C= (p.Tyr4985=) n.3301C= c.14895C= (p.Tyr4965=) c.14832C= (p.Tyr4944=) c.14823C= (p.Tyr4941=) c.14778C= (p.Tyr4926=) c.11736C= (p.Tyr3912=) c.7533C= (p.Tyr2511=) n.92+213G= | |
| 9 | g.130433408C>G | CA375219374 | HMCN2 | c.14898C>G (p.Tyr4966Ter) c.14955C>G (p.Tyr4985Ter) n.3301C>G c.14895C>G (p.Tyr4965Ter) c.14832C>G (p.Tyr4944Ter) c.14823C>G (p.Tyr4941Ter) c.14778C>G (p.Tyr4926Ter) c.11736C>G (p.Tyr3912Ter) c.7533C>G (p.Tyr2511Ter) n.92+213G>C | |
| 9 | g.130433408C>T | CA200583126 | HMCN2 | c.14898C>T (p.Tyr4966=) c.14955C>T (p.Tyr4985=) n.3301C>T c.14895C>T (p.Tyr4965=) c.14832C>T (p.Tyr4944=) c.14823C>T (p.Tyr4941=) c.14778C>T (p.Tyr4926=) c.11736C>T (p.Tyr3912=) c.7533C>T (p.Tyr2511=) n.92+213G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433409C>A | CA467387218 | HMCN2 | c.14899C>A (p.Arg4967=) c.14956C>A (p.Arg4986=) n.3302C>A c.14896C>A (p.Arg4966=) c.14833C>A (p.Arg4945=) c.14824C>A (p.Arg4942=) c.14779C>A (p.Arg4927=) c.11737C>A (p.Arg3913=) c.7534C>A (p.Arg2512=) n.92+212G>T | gnomAD v4 |
| 9 | g.130433409C>G | CA375219376 | HMCN2 | c.14899C>G (p.Arg4967Gly) c.14956C>G (p.Arg4986Gly) n.3302C>G c.14896C>G (p.Arg4966Gly) c.14833C>G (p.Arg4945Gly) c.14824C>G (p.Arg4942Gly) c.14779C>G (p.Arg4927Gly) c.11737C>G (p.Arg3913Gly) c.7534C>G (p.Arg2512Gly) n.92+212G>C | |
| 9 | g.130433409C>T | CA375219378 | HMCN2 | c.14899C>T (p.Arg4967Trp) c.14956C>T (p.Arg4986Trp) n.3302C>T c.14896C>T (p.Arg4966Trp) c.14833C>T (p.Arg4945Trp) c.14824C>T (p.Arg4942Trp) c.14779C>T (p.Arg4927Trp) c.11737C>T (p.Arg3913Trp) c.7534C>T (p.Arg2512Trp) n.92+212G>A | gnomAD v4 |
| 9 | g.130433409_130433422del | CA2692135583 | HMCN2 | c.14899_14912del (p.Arg4967AlafsTer?) c.14956_14969del (p.Arg4986AlafsTer?) n.3302_3315del c.14896_14909del (p.Arg4966AlafsTer?) c.14833_14846del (p.Arg4945AlafsTer?) c.14824_14837del (p.Arg4942AlafsTer?) c.14779_14792del (p.Arg4927AlafsTer?) c.11737_11750del (p.Arg3913AlafsTer?) c.7534_7547del (p.Arg2512AlafsTer?) n.92+199_92+212del | gnomAD v4 |
| 9 | g.130433410G>A | CA375219379 | HMCN2 | c.14900G>A (p.Arg4967Gln) c.14957G>A (p.Arg4986Gln) n.3303G>A c.14897G>A (p.Arg4966Gln) c.14834G>A (p.Arg4945Gln) c.14825G>A (p.Arg4942Gln) c.14780G>A (p.Arg4927Gln) c.11738G>A (p.Arg3913Gln) c.7535G>A (p.Arg2512Gln) n.92+211C>T | gnomAD v4 |
| 9 | g.130433410G>C | CA375219381 | HMCN2 | c.14900G>C (p.Arg4967Pro) c.14957G>C (p.Arg4986Pro) n.3303G>C c.14897G>C (p.Arg4966Pro) c.14834G>C (p.Arg4945Pro) c.14825G>C (p.Arg4942Pro) c.14780G>C (p.Arg4927Pro) c.11738G>C (p.Arg3913Pro) c.7535G>C (p.Arg2512Pro) n.92+211C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433410G= | CA1881266273 | HMCN2 | c.14900G= (p.Arg4967=) c.14957G= (p.Arg4986=) n.3303G= c.14897G= (p.Arg4966=) c.14834G= (p.Arg4945=) c.14825G= (p.Arg4942=) c.14780G= (p.Arg4927=) c.11738G= (p.Arg3913=) c.7535G= (p.Arg2512=) n.92+211C= | |
| 9 | g.130433410G>T | CA375219382 | HMCN2 | c.14900G>T (p.Arg4967Leu) c.14957G>T (p.Arg4986Leu) n.3303G>T c.14897G>T (p.Arg4966Leu) c.14834G>T (p.Arg4945Leu) c.14825G>T (p.Arg4942Leu) c.14780G>T (p.Arg4927Leu) c.11738G>T (p.Arg3913Leu) c.7535G>T (p.Arg2512Leu) n.92+211C>A | gnomAD v4 |
| 9 | g.130433411G>A | CA467387219 | HMCN2 | c.14901G>A (p.Arg4967=) c.14958G>A (p.Arg4986=) n.3304G>A c.14898G>A (p.Arg4966=) c.14835G>A (p.Arg4945=) c.14826G>A (p.Arg4942=) c.14781G>A (p.Arg4927=) c.11739G>A (p.Arg3913=) c.7536G>A (p.Arg2512=) n.92+210C>T | gnomAD v4 |
| 9 | g.130433411G>C | CA467387221 | HMCN2 | c.14901G>C (p.Arg4967=) c.14958G>C (p.Arg4986=) n.3304G>C c.14898G>C (p.Arg4966=) c.14835G>C (p.Arg4945=) c.14826G>C (p.Arg4942=) c.14781G>C (p.Arg4927=) c.11739G>C (p.Arg3913=) c.7536G>C (p.Arg2512=) n.92+210C>G | gnomAD v4 |
| 9 | g.130433411G>T | CA467387220 | HMCN2 | c.14901G>T (p.Arg4967=) c.14958G>T (p.Arg4986=) n.3304G>T c.14898G>T (p.Arg4966=) c.14835G>T (p.Arg4945=) c.14826G>T (p.Arg4942=) c.14781G>T (p.Arg4927=) c.11739G>T (p.Arg3913=) c.7536G>T (p.Arg2512=) n.92+210C>A | gnomAD v4 |
| 9 | g.130433413_130433418dup | CA1881266276 | HMCN2 | c.14903_14908dup (p.Leu4969_Pro4970insLeuLeu) c.14960_14965dup (p.Leu4988_Pro4989insLeuLeu) n.3306_3311dup c.14900_14905dup (p.Leu4968_Pro4969insLeuLeu) c.14837_14842dup (p.Leu4947_Pro4948insLeuLeu) c.14828_14833dup (p.Leu4944_Pro4945insLeuLeu) c.14783_14788dup (p.Leu4929_Pro4930insLeuLeu) c.11741_11746dup (p.Leu3915_Pro3916insLeuLeu) c.7538_7543dup (p.Leu2514_Pro2515insLeuLeu) n.92+205_92+210dup | dbSNP |
| 9 | g.130433412C>A | CA375219383 | HMCN2 | c.14902C>A (p.Leu4968Met) c.14959C>A (p.Leu4987Met) n.3305C>A c.14899C>A (p.Leu4967Met) c.14836C>A (p.Leu4946Met) c.14827C>A (p.Leu4943Met) c.14782C>A (p.Leu4928Met) c.11740C>A (p.Leu3914Met) c.7537C>A (p.Leu2513Met) n.92+209G>T | gnomAD v4 |
| 9 | g.130433412C= | CA1881266279 | HMCN2 | c.14902C= (p.Leu4968=) c.14959C= (p.Leu4987=) n.3305C= c.14899C= (p.Leu4967=) c.14836C= (p.Leu4946=) c.14827C= (p.Leu4943=) c.14782C= (p.Leu4928=) c.11740C= (p.Leu3914=) c.7537C= (p.Leu2513=) n.92+209G= | |
| 9 | g.130433412C>G | CA375219384 | HMCN2 | c.14902C>G (p.Leu4968Val) c.14959C>G (p.Leu4987Val) n.3305C>G c.14899C>G (p.Leu4967Val) c.14836C>G (p.Leu4946Val) c.14827C>G (p.Leu4943Val) c.14782C>G (p.Leu4928Val) c.11740C>G (p.Leu3914Val) c.7537C>G (p.Leu2513Val) n.92+209G>C | dbSNP gnomAD v4 |
| 9 | g.130433412C>T | CA467387222 | HMCN2 | c.14902C>T (p.Leu4968=) c.14959C>T (p.Leu4987=) n.3305C>T c.14899C>T (p.Leu4967=) c.14836C>T (p.Leu4946=) c.14827C>T (p.Leu4943=) c.14782C>T (p.Leu4928=) c.11740C>T (p.Leu3914=) c.7537C>T (p.Leu2513=) n.92+209G>A | gnomAD v4 |
| 9 | g.130433413T>A | CA375219390 | HMCN2 | c.14903T>A (p.Leu4968Gln) c.14960T>A (p.Leu4987Gln) n.3306T>A c.14900T>A (p.Leu4967Gln) c.14837T>A (p.Leu4946Gln) c.14828T>A (p.Leu4943Gln) c.14783T>A (p.Leu4928Gln) c.11741T>A (p.Leu3914Gln) c.7538T>A (p.Leu2513Gln) n.92+208A>T | |
| 9 | g.130433413T>C | CA375219393 | HMCN2 | c.14903T>C (p.Leu4968Pro) c.14960T>C (p.Leu4987Pro) n.3306T>C c.14900T>C (p.Leu4967Pro) c.14837T>C (p.Leu4946Pro) c.14828T>C (p.Leu4943Pro) c.14783T>C (p.Leu4928Pro) c.11741T>C (p.Leu3914Pro) c.7538T>C (p.Leu2513Pro) n.92+208A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433413T>G | CA375219385 | HMCN2 | c.14903T>G (p.Leu4968Arg) c.14960T>G (p.Leu4987Arg) n.3306T>G c.14900T>G (p.Leu4967Arg) c.14837T>G (p.Leu4946Arg) c.14828T>G (p.Leu4943Arg) c.14783T>G (p.Leu4928Arg) c.11741T>G (p.Leu3914Arg) c.7538T>G (p.Leu2513Arg) n.92+208A>C | |
| 9 | g.130433413T= | CA1881266282 | HMCN2 | c.14903T= (p.Leu4968=) c.14960T= (p.Leu4987=) n.3306T= c.14900T= (p.Leu4967=) c.14837T= (p.Leu4946=) c.14828T= (p.Leu4943=) c.14783T= (p.Leu4928=) c.11741T= (p.Leu3914=) c.7538T= (p.Leu2513=) n.92+208A= | |
| 9 | g.130433414G>A | CA467387223 | HMCN2 | c.14904G>A (p.Leu4968=) c.14961G>A (p.Leu4987=) n.3307G>A c.14901G>A (p.Leu4967=) c.14838G>A (p.Leu4946=) c.14829G>A (p.Leu4943=) c.14784G>A (p.Leu4928=) c.11742G>A (p.Leu3914=) c.7539G>A (p.Leu2513=) n.92+207C>T | gnomAD v4 |
| 9 | g.130433414G>C | CA467387224 | HMCN2 | c.14904G>C (p.Leu4968=) c.14961G>C (p.Leu4987=) n.3307G>C c.14901G>C (p.Leu4967=) c.14838G>C (p.Leu4946=) c.14829G>C (p.Leu4943=) c.14784G>C (p.Leu4928=) c.11742G>C (p.Leu3914=) c.7539G>C (p.Leu2513=) n.92+207C>G | gnomAD v4 |
| 9 | g.130433414G>T | CA467387225 | HMCN2 | c.14904G>T (p.Leu4968=) c.14961G>T (p.Leu4987=) n.3307G>T c.14901G>T (p.Leu4967=) c.14838G>T (p.Leu4946=) c.14829G>T (p.Leu4943=) c.14784G>T (p.Leu4928=) c.11742G>T (p.Leu3914=) c.7539G>T (p.Leu2513=) n.92+207C>A | |
| 9 | g.130433420_130433425dup | CA2692135584 | HMCN2 | c.14910_14915dup (p.Pro4972_Leu4973insLeuPro) c.14967_14972dup (p.Pro4991_Leu4992insLeuPro) n.3313_3318dup c.14907_14912dup (p.Pro4971_Leu4972insLeuPro) c.14844_14849dup (p.Pro4950_Leu4951insLeuPro) c.14835_14840dup (p.Pro4947_Leu4948insLeuPro) c.14790_14795dup (p.Pro4932_Leu4933insLeuPro) c.11748_11753dup (p.Pro3918_Leu3919insLeuPro) c.7545_7550dup (p.Pro2517_Leu2518insLeuPro) n.92+202_92+207dup | gnomAD v4 |
| 9 | g.130433415C>A | CA375219395 | HMCN2 | c.14905C>A (p.Leu4969Met) c.14962C>A (p.Leu4988Met) n.3308C>A c.14902C>A (p.Leu4968Met) c.14839C>A (p.Leu4947Met) c.14830C>A (p.Leu4944Met) c.14785C>A (p.Leu4929Met) c.11743C>A (p.Leu3915Met) c.7540C>A (p.Leu2514Met) n.92+206G>T | gnomAD v4 |
| 9 | g.130433415C= | CA1881266284 | HMCN2 | c.14905C= (p.Leu4969=) c.14962C= (p.Leu4988=) n.3308C= c.14902C= (p.Leu4968=) c.14839C= (p.Leu4947=) c.14830C= (p.Leu4944=) c.14785C= (p.Leu4929=) c.11743C= (p.Leu3915=) c.7540C= (p.Leu2514=) n.92+206G= | |
| 9 | g.130433415C>G | CA375219397 | HMCN2 | c.14905C>G (p.Leu4969Val) c.14962C>G (p.Leu4988Val) n.3308C>G c.14902C>G (p.Leu4968Val) c.14839C>G (p.Leu4947Val) c.14830C>G (p.Leu4944Val) c.14785C>G (p.Leu4929Val) c.11743C>G (p.Leu3915Val) c.7540C>G (p.Leu2514Val) n.92+206G>C | |
| 9 | g.130433415C>T | CA467387226 | HMCN2 | c.14905C>T (p.Leu4969=) c.14962C>T (p.Leu4988=) n.3308C>T c.14902C>T (p.Leu4968=) c.14839C>T (p.Leu4947=) c.14830C>T (p.Leu4944=) c.14785C>T (p.Leu4929=) c.11743C>T (p.Leu3915=) c.7540C>T (p.Leu2514=) n.92+206G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433416T>A | CA375219399 | HMCN2 | c.14906T>A (p.Leu4969Gln) c.14963T>A (p.Leu4988Gln) n.3309T>A c.14903T>A (p.Leu4968Gln) c.14840T>A (p.Leu4947Gln) c.14831T>A (p.Leu4944Gln) c.14786T>A (p.Leu4929Gln) c.11744T>A (p.Leu3915Gln) c.7541T>A (p.Leu2514Gln) n.92+205A>T | |
| 9 | g.130433416T>C | CA375219401 | HMCN2 | c.14906T>C (p.Leu4969Pro) c.14963T>C (p.Leu4988Pro) n.3309T>C c.14903T>C (p.Leu4968Pro) c.14840T>C (p.Leu4947Pro) c.14831T>C (p.Leu4944Pro) c.14786T>C (p.Leu4929Pro) c.11744T>C (p.Leu3915Pro) c.7541T>C (p.Leu2514Pro) n.92+205A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433416T>G | CA375219403 | HMCN2 | c.14906T>G (p.Leu4969Arg) c.14963T>G (p.Leu4988Arg) n.3309T>G c.14903T>G (p.Leu4968Arg) c.14840T>G (p.Leu4947Arg) c.14831T>G (p.Leu4944Arg) c.14786T>G (p.Leu4929Arg) c.11744T>G (p.Leu3915Arg) c.7541T>G (p.Leu2514Arg) n.92+205A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433416T= | CA1881266287 | HMCN2 | c.14906T= (p.Leu4969=) c.14963T= (p.Leu4988=) n.3309T= c.14903T= (p.Leu4968=) c.14840T= (p.Leu4947=) c.14831T= (p.Leu4944=) c.14786T= (p.Leu4929=) c.11744T= (p.Leu3915=) c.7541T= (p.Leu2514=) n.92+205A= | |
| 9 | g.130433417G>A | CA467387227 | HMCN2 | c.14907G>A (p.Leu4969=) c.14964G>A (p.Leu4988=) n.3310G>A c.14904G>A (p.Leu4968=) c.14841G>A (p.Leu4947=) c.14832G>A (p.Leu4944=) c.14787G>A (p.Leu4929=) c.11745G>A (p.Leu3915=) c.7542G>A (p.Leu2514=) n.92+204C>T | dbSNP gnomAD v4 |
| 9 | g.130433417G>C | CA467387228 | HMCN2 | c.14907G>C (p.Leu4969=) c.14964G>C (p.Leu4988=) n.3310G>C c.14904G>C (p.Leu4968=) c.14841G>C (p.Leu4947=) c.14832G>C (p.Leu4944=) c.14787G>C (p.Leu4929=) c.11745G>C (p.Leu3915=) c.7542G>C (p.Leu2514=) n.92+204C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433417G= | CA1881266291 | HMCN2 | c.14907G= (p.Leu4969=) c.14964G= (p.Leu4988=) n.3310G= c.14904G= (p.Leu4968=) c.14841G= (p.Leu4947=) c.14832G= (p.Leu4944=) c.14787G= (p.Leu4929=) c.11745G= (p.Leu3915=) c.7542G= (p.Leu2514=) n.92+204C= | |
| 9 | g.130433417G>T | CA467387229 | HMCN2 | c.14907G>T (p.Leu4969=) c.14964G>T (p.Leu4988=) n.3310G>T c.14904G>T (p.Leu4968=) c.14841G>T (p.Leu4947=) c.14832G>T (p.Leu4944=) c.14787G>T (p.Leu4929=) c.11745G>T (p.Leu3915=) c.7542G>T (p.Leu2514=) n.92+204C>A | gnomAD v4 |
| 9 | g.130433419_130433421dup | CA2579483196 | HMCN2 | c.14909_14911dup (p.Pro4970_Leu4971insPro) c.14966_14968dup (p.Pro4989_Leu4990insPro) n.3312_3314dup c.14906_14908dup (p.Pro4969_Leu4970insPro) c.14843_14845dup (p.Pro4948_Leu4949insPro) c.14834_14836dup (p.Pro4945_Leu4946insPro) c.14789_14791dup (p.Pro4930_Leu4931insPro) c.11747_11749dup (p.Pro3916_Leu3917insPro) c.7544_7546dup (p.Pro2515_Leu2516insPro) n.92+202_92+204dup | gnomAD v4 |
| 9 | g.130433418C>A | CA375219411 | HMCN2 | c.14908C>A (p.Pro4970Thr) c.14965C>A (p.Pro4989Thr) n.3311C>A c.14905C>A (p.Pro4969Thr) c.14842C>A (p.Pro4948Thr) c.14833C>A (p.Pro4945Thr) c.14788C>A (p.Pro4930Thr) c.11746C>A (p.Pro3916Thr) c.7543C>A (p.Pro2515Thr) n.92+203G>T | gnomAD v4 |
| 9 | g.130433418C= | CA1881266296 | HMCN2 | c.14908C= (p.Pro4970=) c.14965C= (p.Pro4989=) n.3311C= c.14905C= (p.Pro4969=) c.14842C= (p.Pro4948=) c.14833C= (p.Pro4945=) c.14788C= (p.Pro4930=) c.11746C= (p.Pro3916=) c.7543C= (p.Pro2515=) n.92+203G= | |
| 9 | g.130433418C>G | CA375219405 | HMCN2 | c.14908C>G (p.Pro4970Ala) c.14965C>G (p.Pro4989Ala) n.3311C>G c.14905C>G (p.Pro4969Ala) c.14842C>G (p.Pro4948Ala) c.14833C>G (p.Pro4945Ala) c.14788C>G (p.Pro4930Ala) c.11746C>G (p.Pro3916Ala) c.7543C>G (p.Pro2515Ala) n.92+203G>C | |
| 9 | g.130433418C>T | CA375219410 | HMCN2 | c.14908C>T (p.Pro4970Ser) c.14965C>T (p.Pro4989Ser) n.3311C>T c.14905C>T (p.Pro4969Ser) c.14842C>T (p.Pro4948Ser) c.14833C>T (p.Pro4945Ser) c.14788C>T (p.Pro4930Ser) c.11746C>T (p.Pro3916Ser) c.7543C>T (p.Pro2515Ser) n.92+203G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433419C>A | CA375219412 | HMCN2 | c.14909C>A (p.Pro4970Gln) c.14966C>A (p.Pro4989Gln) n.3312C>A c.14906C>A (p.Pro4969Gln) c.14843C>A (p.Pro4948Gln) c.14834C>A (p.Pro4945Gln) c.14789C>A (p.Pro4930Gln) c.11747C>A (p.Pro3916Gln) c.7544C>A (p.Pro2515Gln) n.92+202G>T | gnomAD v4 COSMIC |
| 9 | g.130433419C>G | CA375219414 | HMCN2 | c.14909C>G (p.Pro4970Arg) c.14966C>G (p.Pro4989Arg) n.3312C>G c.14906C>G (p.Pro4969Arg) c.14843C>G (p.Pro4948Arg) c.14834C>G (p.Pro4945Arg) c.14789C>G (p.Pro4930Arg) c.11747C>G (p.Pro3916Arg) c.7544C>G (p.Pro2515Arg) n.92+202G>C | gnomAD v4 |
| 9 | g.130433419C>T | CA375219416 | HMCN2 | c.14909C>T (p.Pro4970Leu) c.14966C>T (p.Pro4989Leu) n.3312C>T c.14906C>T (p.Pro4969Leu) c.14843C>T (p.Pro4948Leu) c.14834C>T (p.Pro4945Leu) c.14789C>T (p.Pro4930Leu) c.11747C>T (p.Pro3916Leu) c.7544C>T (p.Pro2515Leu) n.92+202G>A | gnomAD v4 |
| 9 | g.130433420G>A | CA467387231 | HMCN2 | c.14910G>A (p.Pro4970=) c.14967G>A (p.Pro4989=) n.3313G>A c.14907G>A (p.Pro4969=) c.14844G>A (p.Pro4948=) c.14835G>A (p.Pro4945=) c.14790G>A (p.Pro4930=) c.11748G>A (p.Pro3916=) c.7545G>A (p.Pro2515=) n.92+201C>T | gnomAD v4 |
| 9 | g.130433420G>C | CA467387232 | HMCN2 | c.14910G>C (p.Pro4970=) c.14967G>C (p.Pro4989=) n.3313G>C c.14907G>C (p.Pro4969=) c.14844G>C (p.Pro4948=) c.14835G>C (p.Pro4945=) c.14790G>C (p.Pro4930=) c.11748G>C (p.Pro3916=) c.7545G>C (p.Pro2515=) n.92+201C>G | |
| 9 | g.130433420G>T | CA467387230 | HMCN2 | c.14910G>T (p.Pro4970=) c.14967G>T (p.Pro4989=) n.3313G>T c.14907G>T (p.Pro4969=) c.14844G>T (p.Pro4948=) c.14835G>T (p.Pro4945=) c.14790G>T (p.Pro4930=) c.11748G>T (p.Pro3916=) c.7545G>T (p.Pro2515=) n.92+201C>A | gnomAD v4 |
| 9 | g.130433421C>A | CA375219418 | HMCN2 | c.14911C>A (p.Leu4971Met) c.14968C>A (p.Leu4990Met) n.3314C>A c.14908C>A (p.Leu4970Met) c.14845C>A (p.Leu4949Met) c.14836C>A (p.Leu4946Met) c.14791C>A (p.Leu4931Met) c.11749C>A (p.Leu3917Met) c.7546C>A (p.Leu2516Met) n.92+200G>T | gnomAD v4 |
| 9 | g.130433421C>G | CA375219419 | HMCN2 | c.14911C>G (p.Leu4971Val) c.14968C>G (p.Leu4990Val) n.3314C>G c.14908C>G (p.Leu4970Val) c.14845C>G (p.Leu4949Val) c.14836C>G (p.Leu4946Val) c.14791C>G (p.Leu4931Val) c.11749C>G (p.Leu3917Val) c.7546C>G (p.Leu2516Val) n.92+200G>C | gnomAD v4 |
| 9 | g.130433421C>T | CA467387233 | HMCN2 | c.14911C>T (p.Leu4971=) c.14968C>T (p.Leu4990=) n.3314C>T c.14908C>T (p.Leu4970=) c.14845C>T (p.Leu4949=) c.14836C>T (p.Leu4946=) c.14791C>T (p.Leu4931=) c.11749C>T (p.Leu3917=) c.7546C>T (p.Leu2516=) n.92+200G>A | |
| 9 | g.130433422T>A | CA375219426 | HMCN2 | c.14912T>A (p.Leu4971Gln) c.14969T>A (p.Leu4990Gln) n.3315T>A c.14909T>A (p.Leu4970Gln) c.14846T>A (p.Leu4949Gln) c.14837T>A (p.Leu4946Gln) c.14792T>A (p.Leu4931Gln) c.11750T>A (p.Leu3917Gln) c.7547T>A (p.Leu2516Gln) n.92+199A>T | |
| 9 | g.130433422T>C | CA375219424 | HMCN2 | c.14912T>C (p.Leu4971Pro) c.14969T>C (p.Leu4990Pro) n.3315T>C c.14909T>C (p.Leu4970Pro) c.14846T>C (p.Leu4949Pro) c.14837T>C (p.Leu4946Pro) c.14792T>C (p.Leu4931Pro) c.11750T>C (p.Leu3917Pro) c.7547T>C (p.Leu2516Pro) n.92+199A>G | gnomAD v4 |
| 9 | g.130433422T>G | CA375219422 | HMCN2 | c.14912T>G (p.Leu4971Arg) c.14969T>G (p.Leu4990Arg) n.3315T>G c.14909T>G (p.Leu4970Arg) c.14846T>G (p.Leu4949Arg) c.14837T>G (p.Leu4946Arg) c.14792T>G (p.Leu4931Arg) c.11750T>G (p.Leu3917Arg) c.7547T>G (p.Leu2516Arg) n.92+199A>C | gnomAD v4 |
| 9 | g.130433423G>A | CA467387234 | HMCN2 | c.14913G>A (p.Leu4971=) c.14970G>A (p.Leu4990=) n.3316G>A c.14910G>A (p.Leu4970=) c.14847G>A (p.Leu4949=) c.14838G>A (p.Leu4946=) c.14793G>A (p.Leu4931=) c.11751G>A (p.Leu3917=) c.7548G>A (p.Leu2516=) n.92+198C>T | gnomAD v4 |
| 9 | g.130433423G>C | CA467387235 | HMCN2 | c.14913G>C (p.Leu4971=) c.14970G>C (p.Leu4990=) n.3316G>C c.14910G>C (p.Leu4970=) c.14847G>C (p.Leu4949=) c.14838G>C (p.Leu4946=) c.14793G>C (p.Leu4931=) c.11751G>C (p.Leu3917=) c.7548G>C (p.Leu2516=) n.92+198C>G | |
| 9 | g.130433423G= | CA1881266300 | HMCN2 | c.14913G= (p.Leu4971=) c.14970G= (p.Leu4990=) n.3316G= c.14910G= (p.Leu4970=) c.14847G= (p.Leu4949=) c.14838G= (p.Leu4946=) c.14793G= (p.Leu4931=) c.11751G= (p.Leu3917=) c.7548G= (p.Leu2516=) n.92+198C= | |
| 9 | g.130433423G>T | CA467387236 | HMCN2 | c.14913G>T (p.Leu4971=) c.14970G>T (p.Leu4990=) n.3316G>T c.14910G>T (p.Leu4970=) c.14847G>T (p.Leu4949=) c.14838G>T (p.Leu4946=) c.14793G>T (p.Leu4931=) c.11751G>T (p.Leu3917=) c.7548G>T (p.Leu2516=) n.92+198C>A | gnomAD v4 |
| 9 | g.130433424C>A | CA375219429 | HMCN2 | c.14914C>A (p.Pro4972Thr) c.14971C>A (p.Pro4991Thr) n.3317C>A c.14911C>A (p.Pro4971Thr) c.14848C>A (p.Pro4950Thr) c.14839C>A (p.Pro4947Thr) c.14794C>A (p.Pro4932Thr) c.11752C>A (p.Pro3918Thr) c.7549C>A (p.Pro2517Thr) n.92+197G>T | gnomAD v4 |
| 9 | g.130433424C>G | CA375219432 | HMCN2 | c.14914C>G (p.Pro4972Ala) c.14971C>G (p.Pro4991Ala) n.3317C>G c.14911C>G (p.Pro4971Ala) c.14848C>G (p.Pro4950Ala) c.14839C>G (p.Pro4947Ala) c.14794C>G (p.Pro4932Ala) c.11752C>G (p.Pro3918Ala) c.7549C>G (p.Pro2517Ala) n.92+197G>C | COSMIC |
| 9 | g.130433424C>T | CA375219430 | HMCN2 | c.14914C>T (p.Pro4972Ser) c.14971C>T (p.Pro4991Ser) n.3317C>T c.14911C>T (p.Pro4971Ser) c.14848C>T (p.Pro4950Ser) c.14839C>T (p.Pro4947Ser) c.14794C>T (p.Pro4932Ser) c.11752C>T (p.Pro3918Ser) c.7549C>T (p.Pro2517Ser) n.92+197G>A | gnomAD v4 COSMIC |
| 9 | g.130433425_130433426insGCTACC | CA590945146 | HMCN2 | c.14915_14916insGCTACC (p.Pro4972_Leu4973insLeuPro) c.14972_14973insGCTACC (p.Pro4991_Leu4992insLeuPro) n.3318_3319insGCTACC c.14912_14913insGCTACC (p.Pro4971_Leu4972insLeuPro) c.14849_14850insGCTACC (p.Pro4950_Leu4951insLeuPro) c.14840_14841insGCTACC (p.Pro4947_Leu4948insLeuPro) c.14795_14796insGCTACC (p.Pro4932_Leu4933insLeuPro) c.11753_11754insGCTACC (p.Pro3918_Leu3919insLeuPro) c.7550_7551insGCTACC (p.Pro2517_Leu2518insLeuPro) n.92+197_92+198insTAGCGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433425_130433426insGCTTCC | CA860454515 | HMCN2 | c.14915_14916insGCTTCC (p.Pro4972_Leu4973insLeuPro) c.14972_14973insGCTTCC (p.Pro4991_Leu4992insLeuPro) n.3318_3319insGCTTCC c.14912_14913insGCTTCC (p.Pro4971_Leu4972insLeuPro) c.14849_14850insGCTTCC (p.Pro4950_Leu4951insLeuPro) c.14840_14841insGCTTCC (p.Pro4947_Leu4948insLeuPro) c.14795_14796insGCTTCC (p.Pro4932_Leu4933insLeuPro) c.11753_11754insGCTTCC (p.Pro3918_Leu3919insLeuPro) c.7550_7551insGCTTCC (p.Pro2517_Leu2518insLeuPro) n.92+197_92+198insAAGCGG | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433427del | CA2692135585 | HMCN2 | c.14917del (p.Leu4973TrpfsTer?) c.14974del (p.Leu4992TrpfsTer?) n.3320del c.14914del (p.Leu4972TrpfsTer?) c.14851del (p.Leu4951TrpfsTer?) c.14842del (p.Leu4948TrpfsTer?) c.14797del (p.Leu4933TrpfsTer?) c.11755del (p.Leu3919TrpfsTer?) c.7552del (p.Leu2518TrpfsTer?) n.92+197del | gnomAD v4 |
| 9 | g.130433425C>A | CA375219435 | HMCN2 | c.14915C>A (p.Pro4972His) c.14972C>A (p.Pro4991His) n.3318C>A c.14912C>A (p.Pro4971His) c.14849C>A (p.Pro4950His) c.14840C>A (p.Pro4947His) c.14795C>A (p.Pro4932His) c.11753C>A (p.Pro3918His) c.7550C>A (p.Pro2517His) n.92+196G>T | gnomAD v4 |
| 9 | g.130433425C= | CA1881266309 | HMCN2 | c.14915C= (p.Pro4972=) c.14972C= (p.Pro4991=) n.3318C= c.14912C= (p.Pro4971=) c.14849C= (p.Pro4950=) c.14840C= (p.Pro4947=) c.14795C= (p.Pro4932=) c.11753C= (p.Pro3918=) c.7550C= (p.Pro2517=) n.92+196G= | |
| 9 | g.130433425C>G | CA375219437 | HMCN2 | c.14915C>G (p.Pro4972Arg) c.14972C>G (p.Pro4991Arg) n.3318C>G c.14912C>G (p.Pro4971Arg) c.14849C>G (p.Pro4950Arg) c.14840C>G (p.Pro4947Arg) c.14795C>G (p.Pro4932Arg) c.11753C>G (p.Pro3918Arg) c.7550C>G (p.Pro2517Arg) n.92+196G>C | |
| 9 | g.130433425C>T | CA200583127 | HMCN2 | c.14915C>T (p.Pro4972Leu) c.14972C>T (p.Pro4991Leu) n.3318C>T c.14912C>T (p.Pro4971Leu) c.14849C>T (p.Pro4950Leu) c.14840C>T (p.Pro4947Leu) c.14795C>T (p.Pro4932Leu) c.11753C>T (p.Pro3918Leu) c.7550C>T (p.Pro2517Leu) n.92+196G>A | dbSNP gnomAD v4 |
| 9 | g.130433426C>A | CA467387237 | HMCN2 | c.14916C>A (p.Pro4972=) c.14973C>A (p.Pro4991=) n.3319C>A c.14913C>A (p.Pro4971=) c.14850C>A (p.Pro4950=) c.14841C>A (p.Pro4947=) c.14796C>A (p.Pro4932=) c.11754C>A (p.Pro3918=) c.7551C>A (p.Pro2517=) n.92+195G>T | gnomAD v4 |
| 9 | g.130433426C= | CA1881266311 | HMCN2 | c.14916C= (p.Pro4972=) c.14973C= (p.Pro4991=) n.3319C= c.14913C= (p.Pro4971=) c.14850C= (p.Pro4950=) c.14841C= (p.Pro4947=) c.14796C= (p.Pro4932=) c.11754C= (p.Pro3918=) c.7551C= (p.Pro2517=) n.92+195G= | |
| 9 | g.130433426C>G | CA467387238 | HMCN2 | c.14916C>G (p.Pro4972=) c.14973C>G (p.Pro4991=) n.3319C>G c.14913C>G (p.Pro4971=) c.14850C>G (p.Pro4950=) c.14841C>G (p.Pro4947=) c.14796C>G (p.Pro4932=) c.11754C>G (p.Pro3918=) c.7551C>G (p.Pro2517=) n.92+195G>C | dbSNP gnomAD v4 |
| 9 | g.130433426C>T | CA467387239 | HMCN2 | c.14916C>T (p.Pro4972=) c.14973C>T (p.Pro4991=) n.3319C>T c.14913C>T (p.Pro4971=) c.14850C>T (p.Pro4950=) c.14841C>T (p.Pro4947=) c.14796C>T (p.Pro4932=) c.11754C>T (p.Pro3918=) c.7551C>T (p.Pro2517=) n.92+195G>A | gnomAD v4 |
| 9 | g.130433427C>A | CA375219440 | HMCN2 | c.14917C>A (p.Leu4973Met) c.14974C>A (p.Leu4992Met) n.3320C>A c.14914C>A (p.Leu4972Met) c.14851C>A (p.Leu4951Met) c.14842C>A (p.Leu4948Met) c.14797C>A (p.Leu4933Met) c.11755C>A (p.Leu3919Met) c.7552C>A (p.Leu2518Met) n.92+194G>T | gnomAD v4 |
| 9 | g.130433427C= | CA1881266315 | HMCN2 | c.14917C= (p.Leu4973=) c.14974C= (p.Leu4992=) n.3320C= c.14914C= (p.Leu4972=) c.14851C= (p.Leu4951=) c.14842C= (p.Leu4948=) c.14797C= (p.Leu4933=) c.11755C= (p.Leu3919=) c.7552C= (p.Leu2518=) n.92+194G= | |
| 9 | g.130433427C>G | CA375219442 | HMCN2 | c.14917C>G (p.Leu4973Val) c.14974C>G (p.Leu4992Val) n.3320C>G c.14914C>G (p.Leu4972Val) c.14851C>G (p.Leu4951Val) c.14842C>G (p.Leu4948Val) c.14797C>G (p.Leu4933Val) c.11755C>G (p.Leu3919Val) c.7552C>G (p.Leu2518Val) n.92+194G>C | |
| 9 | g.130433427C>T | CA200583129 | HMCN2 | c.14917C>T (p.Leu4973=) c.14974C>T (p.Leu4992=) n.3320C>T c.14914C>T (p.Leu4972=) c.14851C>T (p.Leu4951=) c.14842C>T (p.Leu4948=) c.14797C>T (p.Leu4933=) c.11755C>T (p.Leu3919=) c.7552C>T (p.Leu2518=) n.92+194G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433428del | CA2692135586 | HMCN2 | c.14918del (p.Leu4973ArgfsTer?) c.14975del (p.Leu4992ArgfsTer?) n.3321del c.14915del (p.Leu4972ArgfsTer?) c.14852del (p.Leu4951ArgfsTer?) c.14843del (p.Leu4948ArgfsTer?) c.14798del (p.Leu4933ArgfsTer?) c.11756del (p.Leu3919ArgfsTer?) c.7553del (p.Leu2518ArgfsTer?) n.92+193del | gnomAD v4 |
| 9 | g.130433428T>A | CA375219444 | HMCN2 | c.14918T>A (p.Leu4973Gln) c.14975T>A (p.Leu4992Gln) n.3321T>A c.14915T>A (p.Leu4972Gln) c.14852T>A (p.Leu4951Gln) c.14843T>A (p.Leu4948Gln) c.14798T>A (p.Leu4933Gln) c.11756T>A (p.Leu3919Gln) c.7553T>A (p.Leu2518Gln) n.92+193A>T | |
| 9 | g.130433428T>C | CA375219446 | HMCN2 | c.14918T>C (p.Leu4973Pro) c.14975T>C (p.Leu4992Pro) n.3321T>C c.14915T>C (p.Leu4972Pro) c.14852T>C (p.Leu4951Pro) c.14843T>C (p.Leu4948Pro) c.14798T>C (p.Leu4933Pro) c.11756T>C (p.Leu3919Pro) c.7553T>C (p.Leu2518Pro) n.92+193A>G | gnomAD v4 |
| 9 | g.130433428T>G | CA375219448 | HMCN2 | c.14918T>G (p.Leu4973Arg) c.14975T>G (p.Leu4992Arg) n.3321T>G c.14915T>G (p.Leu4972Arg) c.14852T>G (p.Leu4951Arg) c.14843T>G (p.Leu4948Arg) c.14798T>G (p.Leu4933Arg) c.11756T>G (p.Leu3919Arg) c.7553T>G (p.Leu2518Arg) n.92+193A>C | |
| 9 | g.130433429G>A | CA467387240 | HMCN2 | c.14919G>A (p.Leu4973=) c.14976G>A (p.Leu4992=) n.3322G>A c.14916G>A (p.Leu4972=) c.14853G>A (p.Leu4951=) c.14844G>A (p.Leu4948=) c.14799G>A (p.Leu4933=) c.11757G>A (p.Leu3919=) c.7554G>A (p.Leu2518=) n.92+192C>T | dbSNP gnomAD v4 |
| 9 | g.130433429G>C | CA467387241 | HMCN2 | c.14919G>C (p.Leu4973=) c.14976G>C (p.Leu4992=) n.3322G>C c.14916G>C (p.Leu4972=) c.14853G>C (p.Leu4951=) c.14844G>C (p.Leu4948=) c.14799G>C (p.Leu4933=) c.11757G>C (p.Leu3919=) c.7554G>C (p.Leu2518=) n.92+192C>G | |
| 9 | g.130433429G= | CA1881266317 | HMCN2 | c.14919G= (p.Leu4973=) c.14976G= (p.Leu4992=) n.3322G= c.14916G= (p.Leu4972=) c.14853G= (p.Leu4951=) c.14844G= (p.Leu4948=) c.14799G= (p.Leu4933=) c.11757G= (p.Leu3919=) c.7554G= (p.Leu2518=) n.92+192C= | |
| 9 | g.130433429G>T | CA467387242 | HMCN2 | c.14919G>T (p.Leu4973=) c.14976G>T (p.Leu4992=) n.3322G>T c.14916G>T (p.Leu4972=) c.14853G>T (p.Leu4951=) c.14844G>T (p.Leu4948=) c.14799G>T (p.Leu4933=) c.11757G>T (p.Leu3919=) c.7554G>T (p.Leu2518=) n.92+192C>A | gnomAD v4 |
| 9 | g.130433431del | CA2692135587 | HMCN2 | c.14921del (p.Gly4974AlafsTer?) c.14978del (p.Gly4993AlafsTer?) n.3324del c.14918del (p.Gly4973AlafsTer?) c.14855del (p.Gly4952AlafsTer?) c.14846del (p.Gly4949AlafsTer?) c.14801del (p.Gly4934AlafsTer?) c.11759del (p.Gly3920AlafsTer?) c.7556del (p.Gly2519AlafsTer?) n.92+192del | gnomAD v4 |
| 9 | g.130433430G>A | CA375219450 | HMCN2 | c.14920G>A (p.Gly4974Ser) c.14977G>A (p.Gly4993Ser) n.3323G>A c.14917G>A (p.Gly4973Ser) c.14854G>A (p.Gly4952Ser) c.14845G>A (p.Gly4949Ser) c.14800G>A (p.Gly4934Ser) c.11758G>A (p.Gly3920Ser) c.7555G>A (p.Gly2519Ser) n.92+191C>T | gnomAD v4 |
| 9 | g.130433430G>C | CA375219452 | HMCN2 | c.14920G>C (p.Gly4974Arg) c.14977G>C (p.Gly4993Arg) n.3323G>C c.14917G>C (p.Gly4973Arg) c.14854G>C (p.Gly4952Arg) c.14845G>C (p.Gly4949Arg) c.14800G>C (p.Gly4934Arg) c.11758G>C (p.Gly3920Arg) c.7555G>C (p.Gly2519Arg) n.92+191C>G | |
| 9 | g.130433430G>T | CA375219454 | HMCN2 | c.14920G>T (p.Gly4974Cys) c.14977G>T (p.Gly4993Cys) n.3323G>T c.14917G>T (p.Gly4973Cys) c.14854G>T (p.Gly4952Cys) c.14845G>T (p.Gly4949Cys) c.14800G>T (p.Gly4934Cys) c.11758G>T (p.Gly3920Cys) c.7555G>T (p.Gly2519Cys) n.92+191C>A | COSMIC |
| 9 | g.130433431_130433448dup | CA860454528 | HMCN2 | c.14921_14938dup (p.His4979_Asp4980insGlyValArgAlaHisHis) c.14978_14995dup (p.His4998_Asp4999insGlyValArgAlaHisHis) n.3324_3341dup c.14918_14935dup (p.His4978_Asp4979insGlyValArgAlaHisHis) c.14855_14872dup (p.His4957_Asp4958insGlyValArgAlaHisHis) c.14846_14863dup (p.His4954_Asp4955insGlyValArgAlaHisHis) c.14801_14818dup (p.His4939_Asp4940insGlyValArgAlaHisHis) c.11759_11776dup (p.His3925_Asp3926insGlyValArgAlaHisHis) c.7556_7573dup (p.His2524_Asp2525insGlyValArgAlaHisHis) n.92+174_92+191dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433431G>A | CA375219461 | HMCN2 | c.14921G>A (p.Gly4974Asp) c.14978G>A (p.Gly4993Asp) n.3324G>A c.14918G>A (p.Gly4973Asp) c.14855G>A (p.Gly4952Asp) c.14846G>A (p.Gly4949Asp) c.14801G>A (p.Gly4934Asp) c.11759G>A (p.Gly3920Asp) c.7556G>A (p.Gly2519Asp) n.92+190C>T | gnomAD v4 |
| 9 | g.130433431G>C | CA375219457 | HMCN2 | c.14921G>C (p.Gly4974Ala) c.14978G>C (p.Gly4993Ala) n.3324G>C c.14918G>C (p.Gly4973Ala) c.14855G>C (p.Gly4952Ala) c.14846G>C (p.Gly4949Ala) c.14801G>C (p.Gly4934Ala) c.11759G>C (p.Gly3920Ala) c.7556G>C (p.Gly2519Ala) n.92+190C>G | dbSNP gnomAD v4 |
| 9 | g.130433431G= | CA1881266322 | HMCN2 | c.14921G= (p.Gly4974=) c.14978G= (p.Gly4993=) n.3324G= c.14918G= (p.Gly4973=) c.14855G= (p.Gly4952=) c.14846G= (p.Gly4949=) c.14801G= (p.Gly4934=) c.11759G= (p.Gly3920=) c.7556G= (p.Gly2519=) n.92+190C= | |
| 9 | g.130433431G>T | CA5283049 | HMCN2 | c.14921G>T (p.Gly4974Val) c.14978G>T (p.Gly4993Val) n.3324G>T c.14918G>T (p.Gly4973Val) c.14855G>T (p.Gly4952Val) c.14846G>T (p.Gly4949Val) c.14801G>T (p.Gly4934Val) c.11759G>T (p.Gly3920Val) c.7556G>T (p.Gly2519Val) n.92+190C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130433433_130433440del | CA2692135588 | HMCN2 | c.14923_14930del (p.Val4975ProfsTer?) c.14980_14987del (p.Val4994ProfsTer?) n.3326_3333del c.14920_14927del (p.Val4974ProfsTer?) c.14857_14864del (p.Val4953ProfsTer?) c.14848_14855del (p.Val4950ProfsTer?) c.14803_14810del (p.Val4935ProfsTer?) c.11761_11768del (p.Val3921ProfsTer?) c.7558_7565del (p.Val2520ProfsTer?) n.92+183_92+190del | gnomAD v4 |
| 9 | g.130433432C>A | CA467387243 | HMCN2 | c.14922C>A (p.Gly4974=) c.14979C>A (p.Gly4993=) n.3325C>A c.14919C>A (p.Gly4973=) c.14856C>A (p.Gly4952=) c.14847C>A (p.Gly4949=) c.14802C>A (p.Gly4934=) c.11760C>A (p.Gly3920=) c.7557C>A (p.Gly2519=) n.92+189G>T | dbSNP gnomAD v4 |
| 9 | g.130433432C= | CA1881266326 | HMCN2 | c.14922C= (p.Gly4974=) c.14979C= (p.Gly4993=) n.3325C= c.14919C= (p.Gly4973=) c.14856C= (p.Gly4952=) c.14847C= (p.Gly4949=) c.14802C= (p.Gly4934=) c.11760C= (p.Gly3920=) c.7557C= (p.Gly2519=) n.92+189G= | |
| 9 | g.130433432C>G | CA467387244 | HMCN2 | c.14922C>G (p.Gly4974=) c.14979C>G (p.Gly4993=) n.3325C>G c.14919C>G (p.Gly4973=) c.14856C>G (p.Gly4952=) c.14847C>G (p.Gly4949=) c.14802C>G (p.Gly4934=) c.11760C>G (p.Gly3920=) c.7557C>G (p.Gly2519=) n.92+189G>C | |
| 9 | g.130433432C>T | CA467387245 | HMCN2 | c.14922C>T (p.Gly4974=) c.14979C>T (p.Gly4993=) n.3325C>T c.14919C>T (p.Gly4973=) c.14856C>T (p.Gly4952=) c.14847C>T (p.Gly4949=) c.14802C>T (p.Gly4934=) c.11760C>T (p.Gly3920=) c.7557C>T (p.Gly2519=) n.92+189G>A | gnomAD v4 |
| 9 | g.130433433G>A | CA375219462 | HMCN2 | c.14923G>A (p.Val4975Met) c.14980G>A (p.Val4994Met) n.3326G>A c.14920G>A (p.Val4974Met) c.14857G>A (p.Val4953Met) c.14848G>A (p.Val4950Met) c.14803G>A (p.Val4935Met) c.11761G>A (p.Val3921Met) c.7558G>A (p.Val2520Met) n.92+188C>T | gnomAD v4 |
| 9 | g.130433433G>C | CA375219464 | HMCN2 | c.14923G>C (p.Val4975Leu) c.14980G>C (p.Val4994Leu) n.3326G>C c.14920G>C (p.Val4974Leu) c.14857G>C (p.Val4953Leu) c.14848G>C (p.Val4950Leu) c.14803G>C (p.Val4935Leu) c.11761G>C (p.Val3921Leu) c.7558G>C (p.Val2520Leu) n.92+188C>G | |
| 9 | g.130433433G>T | CA375219469 | HMCN2 | c.14923G>T (p.Val4975Leu) c.14980G>T (p.Val4994Leu) n.3326G>T c.14920G>T (p.Val4974Leu) c.14857G>T (p.Val4953Leu) c.14848G>T (p.Val4950Leu) c.14803G>T (p.Val4935Leu) c.11761G>T (p.Val3921Leu) c.7558G>T (p.Val2520Leu) n.92+188C>A | gnomAD v4 |
| 9 | g.130433434T>A | CA375219471 | HMCN2 | c.14924T>A (p.Val4975Glu) c.14981T>A (p.Val4994Glu) n.3327T>A c.14921T>A (p.Val4974Glu) c.14858T>A (p.Val4953Glu) c.14849T>A (p.Val4950Glu) c.14804T>A (p.Val4935Glu) c.11762T>A (p.Val3921Glu) c.7559T>A (p.Val2520Glu) n.92+187A>T | |
| 9 | g.130433434T>C | CA375219473 | HMCN2 | c.14924T>C (p.Val4975Ala) c.14981T>C (p.Val4994Ala) n.3327T>C c.14921T>C (p.Val4974Ala) c.14858T>C (p.Val4953Ala) c.14849T>C (p.Val4950Ala) c.14804T>C (p.Val4935Ala) c.11762T>C (p.Val3921Ala) c.7559T>C (p.Val2520Ala) n.92+187A>G | dbSNP |
| 9 | g.130433434T>G | CA375219475 | HMCN2 | c.14924T>G (p.Val4975Gly) c.14981T>G (p.Val4994Gly) n.3327T>G c.14921T>G (p.Val4974Gly) c.14858T>G (p.Val4953Gly) c.14849T>G (p.Val4950Gly) c.14804T>G (p.Val4935Gly) c.11762T>G (p.Val3921Gly) c.7559T>G (p.Val2520Gly) n.92+187A>C | dbSNP |
| 9 | g.130433434T= | CA1881266328 | HMCN2 | c.14924T= (p.Val4975=) c.14981T= (p.Val4994=) n.3327T= c.14921T= (p.Val4974=) c.14858T= (p.Val4953=) c.14849T= (p.Val4950=) c.14804T= (p.Val4935=) c.11762T= (p.Val3921=) c.7559T= (p.Val2520=) n.92+187A= | |
| 9 | g.130433435G>A | CA200583153 | HMCN2 | c.14925G>A (p.Val4975=) c.14982G>A (p.Val4994=) n.3328G>A c.14922G>A (p.Val4974=) c.14859G>A (p.Val4953=) c.14850G>A (p.Val4950=) c.14805G>A (p.Val4935=) c.11763G>A (p.Val3921=) c.7560G>A (p.Val2520=) n.92+186C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433435G>C | CA467387246 | HMCN2 | c.14925G>C (p.Val4975=) c.14982G>C (p.Val4994=) n.3328G>C c.14922G>C (p.Val4974=) c.14859G>C (p.Val4953=) c.14850G>C (p.Val4950=) c.14805G>C (p.Val4935=) c.11763G>C (p.Val3921=) c.7560G>C (p.Val2520=) n.92+186C>G | |
| 9 | g.130433435G= | CA1881266332 | HMCN2 | c.14925G= (p.Val4975=) c.14982G= (p.Val4994=) n.3328G= c.14922G= (p.Val4974=) c.14859G= (p.Val4953=) c.14850G= (p.Val4950=) c.14805G= (p.Val4935=) c.11763G= (p.Val3921=) c.7560G= (p.Val2520=) n.92+186C= | |
| 9 | g.130433435G>T | CA467387247 | HMCN2 | c.14925G>T (p.Val4975=) c.14982G>T (p.Val4994=) n.3328G>T c.14922G>T (p.Val4974=) c.14859G>T (p.Val4953=) c.14850G>T (p.Val4950=) c.14805G>T (p.Val4935=) c.11763G>T (p.Val3921=) c.7560G>T (p.Val2520=) n.92+186C>A | gnomAD v4 |
| 9 | g.130433439_130433440del | CA2692135590 | HMCN2 | c.14929_14930del (p.Ala4977ProfsTer?) c.14986_14987del (p.Ala4996ProfsTer?) n.3332_3333del c.14926_14927del (p.Ala4976ProfsTer?) c.14863_14864del (p.Ala4955ProfsTer?) c.14854_14855del (p.Ala4952ProfsTer?) c.14809_14810del (p.Ala4937ProfsTer?) c.11767_11768del (p.Ala3923ProfsTer?) c.7564_7565del (p.Ala2522ProfsTer?) n.92+185_92+186del | gnomAD v4 |
| 9 | g.130433437_130433455dup | CA2692135589 | HMCN2 | c.14927_14945dup (p.Leu4984ProfsTer?) c.14984_15002dup (p.Leu5003ProfsTer?) n.3330_3348dup c.14924_14942dup (p.Leu4983ProfsTer?) c.14861_14879dup (p.Leu4962ProfsTer?) c.14852_14870dup (p.Leu4959ProfsTer?) c.14807_14825dup (p.Leu4944ProfsTer?) c.11765_11783dup (p.Leu3930ProfsTer?) c.7562_7580dup (p.Leu2529ProfsTer?) n.92+168_92+186dup | gnomAD v4 |
| 9 | g.130433436C>A | CA5283050 | HMCN2 | c.14926C>A (p.Arg4976Ser) c.14983C>A (p.Arg4995Ser) n.3329C>A c.14923C>A (p.Arg4975Ser) c.14860C>A (p.Arg4954Ser) c.14851C>A (p.Arg4951Ser) c.14806C>A (p.Arg4936Ser) c.11764C>A (p.Arg3922Ser) c.7561C>A (p.Arg2521Ser) n.92+185G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433436C= | CA1881266336 | HMCN2 | c.14926C= (p.Arg4976=) c.14983C= (p.Arg4995=) n.3329C= c.14923C= (p.Arg4975=) c.14860C= (p.Arg4954=) c.14851C= (p.Arg4951=) c.14806C= (p.Arg4936=) c.11764C= (p.Arg3922=) c.7561C= (p.Arg2521=) n.92+185G= | |
| 9 | g.130433436C>G | CA375219478 | HMCN2 | c.14926C>G (p.Arg4976Gly) c.14983C>G (p.Arg4995Gly) n.3329C>G c.14923C>G (p.Arg4975Gly) c.14860C>G (p.Arg4954Gly) c.14851C>G (p.Arg4951Gly) c.14806C>G (p.Arg4936Gly) c.11764C>G (p.Arg3922Gly) c.7561C>G (p.Arg2521Gly) n.92+185G>C | |
| 9 | g.130433436C>T | CA375219480 | HMCN2 | c.14926C>T (p.Arg4976Cys) c.14983C>T (p.Arg4995Cys) n.3329C>T c.14923C>T (p.Arg4975Cys) c.14860C>T (p.Arg4954Cys) c.14851C>T (p.Arg4951Cys) c.14806C>T (p.Arg4936Cys) c.11764C>T (p.Arg3922Cys) c.7561C>T (p.Arg2521Cys) n.92+185G>A | dbSNP gnomAD v4 |
| 9 | g.130433437G>A | CA375219483 | HMCN2 | c.14927G>A (p.Arg4976His) c.14984G>A (p.Arg4995His) n.3330G>A c.14924G>A (p.Arg4975His) c.14861G>A (p.Arg4954His) c.14852G>A (p.Arg4951His) c.14807G>A (p.Arg4936His) c.11765G>A (p.Arg3922His) c.7562G>A (p.Arg2521His) n.92+184C>T | dbSNP gnomAD v4 |
| 9 | g.130433437G>C | CA5283051 | HMCN2 | c.14927G>C (p.Arg4976Pro) c.14984G>C (p.Arg4995Pro) n.3330G>C c.14924G>C (p.Arg4975Pro) c.14861G>C (p.Arg4954Pro) c.14852G>C (p.Arg4951Pro) c.14807G>C (p.Arg4936Pro) c.11765G>C (p.Arg3922Pro) c.7562G>C (p.Arg2521Pro) n.92+184C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433437G= | CA1881266341 | HMCN2 | c.14927G= (p.Arg4976=) c.14984G= (p.Arg4995=) n.3330G= c.14924G= (p.Arg4975=) c.14861G= (p.Arg4954=) c.14852G= (p.Arg4951=) c.14807G= (p.Arg4936=) c.11765G= (p.Arg3922=) c.7562G= (p.Arg2521=) n.92+184C= | |
| 9 | g.130433437G>T | CA375219486 | HMCN2 | c.14927G>T (p.Arg4976Leu) c.14984G>T (p.Arg4995Leu) n.3330G>T c.14924G>T (p.Arg4975Leu) c.14861G>T (p.Arg4954Leu) c.14852G>T (p.Arg4951Leu) c.14807G>T (p.Arg4936Leu) c.11765G>T (p.Arg3922Leu) c.7562G>T (p.Arg2521Leu) n.92+184C>A | gnomAD v4 |
| 9 | g.130433438C>A | CA467387248 | HMCN2 | c.14928C>A (p.Arg4976=) c.14985C>A (p.Arg4995=) n.3331C>A c.14925C>A (p.Arg4975=) c.14862C>A (p.Arg4954=) c.14853C>A (p.Arg4951=) c.14808C>A (p.Arg4936=) c.11766C>A (p.Arg3922=) c.7563C>A (p.Arg2521=) n.92+183G>T | gnomAD v4 |
| 9 | g.130433438C>G | CA467387249 | HMCN2 | c.14928C>G (p.Arg4976=) c.14985C>G (p.Arg4995=) n.3331C>G c.14925C>G (p.Arg4975=) c.14862C>G (p.Arg4954=) c.14853C>G (p.Arg4951=) c.14808C>G (p.Arg4936=) c.11766C>G (p.Arg3922=) c.7563C>G (p.Arg2521=) n.92+183G>C | |
| 9 | g.130433438C>T | CA467387250 | HMCN2 | c.14928C>T (p.Arg4976=) c.14985C>T (p.Arg4995=) n.3331C>T c.14925C>T (p.Arg4975=) c.14862C>T (p.Arg4954=) c.14853C>T (p.Arg4951=) c.14808C>T (p.Arg4936=) c.11766C>T (p.Arg3922=) c.7563C>T (p.Arg2521=) n.92+183G>A | gnomAD v4 |
| 9 | g.130433439G>A | CA375219492 | HMCN2 | c.14929G>A (p.Ala4977Thr) c.14986G>A (p.Ala4996Thr) n.3332G>A c.14926G>A (p.Ala4976Thr) c.14863G>A (p.Ala4955Thr) c.14854G>A (p.Ala4952Thr) c.14809G>A (p.Ala4937Thr) c.11767G>A (p.Ala3923Thr) c.7564G>A (p.Ala2522Thr) n.92+182C>T | gnomAD v4 |
| 9 | g.130433439G>C | CA375219490 | HMCN2 | c.14929G>C (p.Ala4977Pro) c.14986G>C (p.Ala4996Pro) n.3332G>C c.14926G>C (p.Ala4976Pro) c.14863G>C (p.Ala4955Pro) c.14854G>C (p.Ala4952Pro) c.14809G>C (p.Ala4937Pro) c.11767G>C (p.Ala3923Pro) c.7564G>C (p.Ala2522Pro) n.92+182C>G | |
| 9 | g.130433439G>T | CA375219488 | HMCN2 | c.14929G>T (p.Ala4977Ser) c.14986G>T (p.Ala4996Ser) n.3332G>T c.14926G>T (p.Ala4976Ser) c.14863G>T (p.Ala4955Ser) c.14854G>T (p.Ala4952Ser) c.14809G>T (p.Ala4937Ser) c.11767G>T (p.Ala3923Ser) c.7564G>T (p.Ala2522Ser) n.92+182C>A | gnomAD v4 |
| 9 | g.130433440C>A | CA375219494 | HMCN2 | c.14930C>A (p.Ala4977Asp) c.14987C>A (p.Ala4996Asp) n.3333C>A c.14927C>A (p.Ala4976Asp) c.14864C>A (p.Ala4955Asp) c.14855C>A (p.Ala4952Asp) c.14810C>A (p.Ala4937Asp) c.11768C>A (p.Ala3923Asp) c.7565C>A (p.Ala2522Asp) n.92+181G>T | gnomAD v4 |
| 9 | g.130433440C= | CA1881266345 | HMCN2 | c.14930C= (p.Ala4977=) c.14987C= (p.Ala4996=) n.3333C= c.14927C= (p.Ala4976=) c.14864C= (p.Ala4955=) c.14855C= (p.Ala4952=) c.14810C= (p.Ala4937=) c.11768C= (p.Ala3923=) c.7565C= (p.Ala2522=) n.92+181G= | |
| 9 | g.130433440C>G | CA375219496 | HMCN2 | c.14930C>G (p.Ala4977Gly) c.14987C>G (p.Ala4996Gly) n.3333C>G c.14927C>G (p.Ala4976Gly) c.14864C>G (p.Ala4955Gly) c.14855C>G (p.Ala4952Gly) c.14810C>G (p.Ala4937Gly) c.11768C>G (p.Ala3923Gly) c.7565C>G (p.Ala2522Gly) n.92+181G>C | |
| 9 | g.130433440C>T | CA375219498 | HMCN2 | c.14930C>T (p.Ala4977Val) c.14987C>T (p.Ala4996Val) n.3333C>T c.14927C>T (p.Ala4976Val) c.14864C>T (p.Ala4955Val) c.14855C>T (p.Ala4952Val) c.14810C>T (p.Ala4937Val) c.11768C>T (p.Ala3923Val) c.7565C>T (p.Ala2522Val) n.92+181G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433441C>A | CA467387251 | HMCN2 | c.14931C>A (p.Ala4977=) c.14988C>A (p.Ala4996=) n.3334C>A c.14928C>A (p.Ala4976=) c.14865C>A (p.Ala4955=) c.14856C>A (p.Ala4952=) c.14811C>A (p.Ala4937=) c.11769C>A (p.Ala3923=) c.7566C>A (p.Ala2522=) n.92+180G>T | gnomAD v4 |
| 9 | g.130433441C= | CA1881266347 | HMCN2 | c.14931C= (p.Ala4977=) c.14988C= (p.Ala4996=) n.3334C= c.14928C= (p.Ala4976=) c.14865C= (p.Ala4955=) c.14856C= (p.Ala4952=) c.14811C= (p.Ala4937=) c.11769C= (p.Ala3923=) c.7566C= (p.Ala2522=) n.92+180G= | |
| 9 | g.130433441C>G | CA467387253 | HMCN2 | c.14931C>G (p.Ala4977=) c.14988C>G (p.Ala4996=) n.3334C>G c.14928C>G (p.Ala4976=) c.14865C>G (p.Ala4955=) c.14856C>G (p.Ala4952=) c.14811C>G (p.Ala4937=) c.11769C>G (p.Ala3923=) c.7566C>G (p.Ala2522=) n.92+180G>C | |
| 9 | g.130433441C>T | CA467387252 | HMCN2 | c.14931C>T (p.Ala4977=) c.14988C>T (p.Ala4996=) n.3334C>T c.14928C>T (p.Ala4976=) c.14865C>T (p.Ala4955=) c.14856C>T (p.Ala4952=) c.14811C>T (p.Ala4937=) c.11769C>T (p.Ala3923=) c.7566C>T (p.Ala2522=) n.92+180G>A | dbSNP |
| 9 | g.130433442C>A | CA375219500 | HMCN2 | c.14932C>A (p.His4978Asn) c.14989C>A (p.His4997Asn) n.3335C>A c.14929C>A (p.His4977Asn) c.14866C>A (p.His4956Asn) c.14857C>A (p.His4953Asn) c.14812C>A (p.His4938Asn) c.11770C>A (p.His3924Asn) c.7567C>A (p.His2523Asn) n.92+179G>T | gnomAD v4 |
| 9 | g.130433442C>G | CA375219502 | HMCN2 | c.14932C>G (p.His4978Asp) c.14989C>G (p.His4997Asp) n.3335C>G c.14929C>G (p.His4977Asp) c.14866C>G (p.His4956Asp) c.14857C>G (p.His4953Asp) c.14812C>G (p.His4938Asp) c.11770C>G (p.His3924Asp) c.7567C>G (p.His2523Asp) n.92+179G>C | |
| 9 | g.130433442C>T | CA375219503 | HMCN2 | c.14932C>T (p.His4978Tyr) c.14989C>T (p.His4997Tyr) n.3335C>T c.14929C>T (p.His4977Tyr) c.14866C>T (p.His4956Tyr) c.14857C>T (p.His4953Tyr) c.14812C>T (p.His4938Tyr) c.11770C>T (p.His3924Tyr) c.7567C>T (p.His2523Tyr) n.92+179G>A | |
| 9 | g.130433443A>C | CA375219509 | HMCN2 | c.14933A>C (p.His4978Pro) c.14990A>C (p.His4997Pro) n.3336A>C c.14930A>C (p.His4977Pro) c.14867A>C (p.His4956Pro) c.14858A>C (p.His4953Pro) c.14813A>C (p.His4938Pro) c.11771A>C (p.His3924Pro) c.7568A>C (p.His2523Pro) n.92+178T>G | gnomAD v4 |
| 9 | g.130433443A>G | CA375219506 | HMCN2 | c.14933A>G (p.His4978Arg) c.14990A>G (p.His4997Arg) n.3336A>G c.14930A>G (p.His4977Arg) c.14867A>G (p.His4956Arg) c.14858A>G (p.His4953Arg) c.14813A>G (p.His4938Arg) c.11771A>G (p.His3924Arg) c.7568A>G (p.His2523Arg) n.92+178T>C | |
| 9 | g.130433443A>T | CA375219508 | HMCN2 | c.14933A>T (p.His4978Leu) c.14990A>T (p.His4997Leu) n.3336A>T c.14930A>T (p.His4977Leu) c.14867A>T (p.His4956Leu) c.14858A>T (p.His4953Leu) c.14813A>T (p.His4938Leu) c.11771A>T (p.His3924Leu) c.7568A>T (p.His2523Leu) n.92+178T>A | |
| 9 | g.130433444C>A | CA375219511 | HMCN2 | c.14934C>A (p.His4978Gln) c.14991C>A (p.His4997Gln) n.3337C>A c.14931C>A (p.His4977Gln) c.14868C>A (p.His4956Gln) c.14859C>A (p.His4953Gln) c.14814C>A (p.His4938Gln) c.11772C>A (p.His3924Gln) c.7569C>A (p.His2523Gln) n.92+177G>T | |
| 9 | g.130433444C= | CA1881266351 | HMCN2 | c.14934C= (p.His4978=) c.14991C= (p.His4997=) n.3337C= c.14931C= (p.His4977=) c.14868C= (p.His4956=) c.14859C= (p.His4953=) c.14814C= (p.His4938=) c.11772C= (p.His3924=) c.7569C= (p.His2523=) n.92+177G= | |
| 9 | g.130433444C>G | CA375219513 | HMCN2 | c.14934C>G (p.His4978Gln) c.14991C>G (p.His4997Gln) n.3337C>G c.14931C>G (p.His4977Gln) c.14868C>G (p.His4956Gln) c.14859C>G (p.His4953Gln) c.14814C>G (p.His4938Gln) c.11772C>G (p.His3924Gln) c.7569C>G (p.His2523Gln) n.92+177G>C | |
| 9 | g.130433444C>T | CA467387254 | HMCN2 | c.14934C>T (p.His4978=) c.14991C>T (p.His4997=) n.3337C>T c.14931C>T (p.His4977=) c.14868C>T (p.His4956=) c.14859C>T (p.His4953=) c.14814C>T (p.His4938=) c.11772C>T (p.His3924=) c.7569C>T (p.His2523=) n.92+177G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433445C>A | CA375219515 | HMCN2 | c.14935C>A (p.His4979Asn) c.14992C>A (p.His4998Asn) n.3338C>A c.14932C>A (p.His4978Asn) c.14869C>A (p.His4957Asn) c.14860C>A (p.His4954Asn) c.14815C>A (p.His4939Asn) c.11773C>A (p.His3925Asn) c.7570C>A (p.His2524Asn) n.92+176G>T | |
| 9 | g.130433445C>G | CA375219517 | HMCN2 | c.14935C>G (p.His4979Asp) c.14992C>G (p.His4998Asp) n.3338C>G c.14932C>G (p.His4978Asp) c.14869C>G (p.His4957Asp) c.14860C>G (p.His4954Asp) c.14815C>G (p.His4939Asp) c.11773C>G (p.His3925Asp) c.7570C>G (p.His2524Asp) n.92+176G>C | |
| 9 | g.130433445C>T | CA375219519 | HMCN2 | c.14935C>T (p.His4979Tyr) c.14992C>T (p.His4998Tyr) n.3338C>T c.14932C>T (p.His4978Tyr) c.14869C>T (p.His4957Tyr) c.14860C>T (p.His4954Tyr) c.14815C>T (p.His4939Tyr) c.11773C>T (p.His3925Tyr) c.7570C>T (p.His2524Tyr) n.92+176G>A | gnomAD v4 |
| 9 | g.130433446A= | CA1881266355 | HMCN2 | c.14936A= (p.His4979=) c.14993A= (p.His4998=) n.3339A= c.14933A= (p.His4978=) c.14870A= (p.His4957=) c.14861A= (p.His4954=) c.14816A= (p.His4939=) c.11774A= (p.His3925=) c.7571A= (p.His2524=) n.92+175T= | |
| 9 | g.130433446A>C | CA375219521 | HMCN2 | c.14936A>C (p.His4979Pro) c.14993A>C (p.His4998Pro) n.3339A>C c.14933A>C (p.His4978Pro) c.14870A>C (p.His4957Pro) c.14861A>C (p.His4954Pro) c.14816A>C (p.His4939Pro) c.11774A>C (p.His3925Pro) c.7571A>C (p.His2524Pro) n.92+175T>G | |
| 9 | g.130433446A>G | CA375219524 | HMCN2 | c.14936A>G (p.His4979Arg) c.14993A>G (p.His4998Arg) n.3339A>G c.14933A>G (p.His4978Arg) c.14870A>G (p.His4957Arg) c.14861A>G (p.His4954Arg) c.14816A>G (p.His4939Arg) c.11774A>G (p.His3925Arg) c.7571A>G (p.His2524Arg) n.92+175T>C | gnomAD v4 |
| 9 | g.130433446A>T | CA200583165 | HMCN2 | c.14936A>T (p.His4979Leu) c.14993A>T (p.His4998Leu) n.3339A>T c.14933A>T (p.His4978Leu) c.14870A>T (p.His4957Leu) c.14861A>T (p.His4954Leu) c.14816A>T (p.His4939Leu) c.11774A>T (p.His3925Leu) c.7571A>T (p.His2524Leu) n.92+175T>A | dbSNP |
| 9 | g.130433447C>A | CA375219527 | HMCN2 | c.14937C>A (p.His4979Gln) c.14994C>A (p.His4998Gln) n.3340C>A c.14934C>A (p.His4978Gln) c.14871C>A (p.His4957Gln) c.14862C>A (p.His4954Gln) c.14817C>A (p.His4939Gln) c.11775C>A (p.His3925Gln) c.7572C>A (p.His2524Gln) n.92+174G>T | gnomAD v4 |
| 9 | g.130433447C= | CA1881266358 | HMCN2 | c.14937C= (p.His4979=) c.14994C= (p.His4998=) n.3340C= c.14934C= (p.His4978=) c.14871C= (p.His4957=) c.14862C= (p.His4954=) c.14817C= (p.His4939=) c.11775C= (p.His3925=) c.7572C= (p.His2524=) n.92+174G= | |
| 9 | g.130433447C>G | CA375219528 | HMCN2 | c.14937C>G (p.His4979Gln) c.14994C>G (p.His4998Gln) n.3340C>G c.14934C>G (p.His4978Gln) c.14871C>G (p.His4957Gln) c.14862C>G (p.His4954Gln) c.14817C>G (p.His4939Gln) c.11775C>G (p.His3925Gln) c.7572C>G (p.His2524Gln) n.92+174G>C | |
| 9 | g.130433447C>T | CA467387255 | HMCN2 | c.14937C>T (p.His4979=) c.14994C>T (p.His4998=) n.3340C>T c.14934C>T (p.His4978=) c.14871C>T (p.His4957=) c.14862C>T (p.His4954=) c.14817C>T (p.His4939=) c.11775C>T (p.His3925=) c.7572C>T (p.His2524=) n.92+174G>A | dbSNP |
| 9 | g.130433448G>A | CA5283052 | HMCN2 | c.14938G>A (p.Asp4980Asn) c.14995G>A (p.Asp4999Asn) n.3341G>A c.14935G>A (p.Asp4979Asn) c.14872G>A (p.Asp4958Asn) c.14863G>A (p.Asp4955Asn) c.14818G>A (p.Asp4940Asn) c.11776G>A (p.Asp3926Asn) c.7573G>A (p.Asp2525Asn) n.92+173C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433448G>C | CA375219532 | HMCN2 | c.14938G>C (p.Asp4980His) c.14995G>C (p.Asp4999His) n.3341G>C c.14935G>C (p.Asp4979His) c.14872G>C (p.Asp4958His) c.14863G>C (p.Asp4955His) c.14818G>C (p.Asp4940His) c.11776G>C (p.Asp3926His) c.7573G>C (p.Asp2525His) n.92+173C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433448G= | CA1881266361 | HMCN2 | c.14938G= (p.Asp4980=) c.14995G= (p.Asp4999=) n.3341G= c.14935G= (p.Asp4979=) c.14872G= (p.Asp4958=) c.14863G= (p.Asp4955=) c.14818G= (p.Asp4940=) c.11776G= (p.Asp3926=) c.7573G= (p.Asp2525=) n.92+173C= | |
| 9 | g.130433448G>T | CA375219534 | HMCN2 | c.14938G>T (p.Asp4980Tyr) c.14995G>T (p.Asp4999Tyr) n.3341G>T c.14935G>T (p.Asp4979Tyr) c.14872G>T (p.Asp4958Tyr) c.14863G>T (p.Asp4955Tyr) c.14818G>T (p.Asp4940Tyr) c.11776G>T (p.Asp3926Tyr) c.7573G>T (p.Asp2525Tyr) n.92+173C>A | |
| 9 | g.130433449A>C | CA375219536 | HMCN2 | c.14939A>C (p.Asp4980Ala) c.14996A>C (p.Asp4999Ala) n.3342A>C c.14936A>C (p.Asp4979Ala) c.14873A>C (p.Asp4958Ala) c.14864A>C (p.Asp4955Ala) c.14819A>C (p.Asp4940Ala) c.11777A>C (p.Asp3926Ala) c.7574A>C (p.Asp2525Ala) n.92+172T>G | |
| 9 | g.130433449A>G | CA375219538 | HMCN2 | c.14939A>G (p.Asp4980Gly) c.14996A>G (p.Asp4999Gly) n.3342A>G c.14936A>G (p.Asp4979Gly) c.14873A>G (p.Asp4958Gly) c.14864A>G (p.Asp4955Gly) c.14819A>G (p.Asp4940Gly) c.11777A>G (p.Asp3926Gly) c.7574A>G (p.Asp2525Gly) n.92+172T>C | gnomAD v4 |
| 9 | g.130433449A>T | CA375219540 | HMCN2 | c.14939A>T (p.Asp4980Val) c.14996A>T (p.Asp4999Val) n.3342A>T c.14936A>T (p.Asp4979Val) c.14873A>T (p.Asp4958Val) c.14864A>T (p.Asp4955Val) c.14819A>T (p.Asp4940Val) c.11777A>T (p.Asp3926Val) c.7574A>T (p.Asp2525Val) n.92+172T>A | gnomAD v4 |
| 9 | g.130433450C>A | CA375219541 | HMCN2 | c.14940C>A (p.Asp4980Glu) c.14997C>A (p.Asp4999Glu) n.3343C>A c.14937C>A (p.Asp4979Glu) c.14874C>A (p.Asp4958Glu) c.14865C>A (p.Asp4955Glu) c.14820C>A (p.Asp4940Glu) c.11778C>A (p.Asp3926Glu) c.7575C>A (p.Asp2525Glu) n.92+171G>T | gnomAD v4 |
| 9 | g.130433450C>G | CA375219543 | HMCN2 | c.14940C>G (p.Asp4980Glu) c.14997C>G (p.Asp4999Glu) n.3343C>G c.14937C>G (p.Asp4979Glu) c.14874C>G (p.Asp4958Glu) c.14865C>G (p.Asp4955Glu) c.14820C>G (p.Asp4940Glu) c.11778C>G (p.Asp3926Glu) c.7575C>G (p.Asp2525Glu) n.92+171G>C | gnomAD v4 |
| 9 | g.130433450C>T | CA467387256 | HMCN2 | c.14940C>T (p.Asp4980=) c.14997C>T (p.Asp4999=) n.3343C>T c.14937C>T (p.Asp4979=) c.14874C>T (p.Asp4958=) c.14865C>T (p.Asp4955=) c.14820C>T (p.Asp4940=) c.11778C>T (p.Asp3926=) c.7575C>T (p.Asp2525=) n.92+171G>A | gnomAD v4 |
| 9 | g.130433451G>A | CA375219548 | HMCN2 | c.14941G>A (p.Val4981Met) c.14998G>A (p.Val5000Met) n.3344G>A c.14938G>A (p.Val4980Met) c.14875G>A (p.Val4959Met) c.14866G>A (p.Val4956Met) c.14821G>A (p.Val4941Met) c.11779G>A (p.Val3927Met) c.7576G>A (p.Val2526Met) n.92+170C>T | gnomAD v4 |
| 9 | g.130433451G>C | CA375219547 | HMCN2 | c.14941G>C (p.Val4981Leu) c.14998G>C (p.Val5000Leu) n.3344G>C c.14938G>C (p.Val4980Leu) c.14875G>C (p.Val4959Leu) c.14866G>C (p.Val4956Leu) c.14821G>C (p.Val4941Leu) c.11779G>C (p.Val3927Leu) c.7576G>C (p.Val2526Leu) n.92+170C>G | gnomAD v4 |
| 9 | g.130433451G= | CA1881266365 | HMCN2 | c.14941G= (p.Val4981=) c.14998G= (p.Val5000=) n.3344G= c.14938G= (p.Val4980=) c.14875G= (p.Val4959=) c.14866G= (p.Val4956=) c.14821G= (p.Val4941=) c.11779G= (p.Val3927=) c.7576G= (p.Val2526=) n.92+170C= | |
| 9 | g.130433451G>T | CA5283053 | HMCN2 | c.14941G>T (p.Val4981Leu) c.14998G>T (p.Val5000Leu) n.3344G>T c.14938G>T (p.Val4980Leu) c.14875G>T (p.Val4959Leu) c.14866G>T (p.Val4956Leu) c.14821G>T (p.Val4941Leu) c.11779G>T (p.Val3927Leu) c.7576G>T (p.Val2526Leu) n.92+170C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130433452T>A | CA375219549 | HMCN2 | c.14942T>A (p.Val4981Glu) c.14999T>A (p.Val5000Glu) n.3345T>A c.14939T>A (p.Val4980Glu) c.14876T>A (p.Val4959Glu) c.14867T>A (p.Val4956Glu) c.14822T>A (p.Val4941Glu) c.11780T>A (p.Val3927Glu) c.7577T>A (p.Val2526Glu) n.92+169A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433452T>C | CA375219550 | HMCN2 | c.14942T>C (p.Val4981Ala) c.14999T>C (p.Val5000Ala) n.3345T>C c.14939T>C (p.Val4980Ala) c.14876T>C (p.Val4959Ala) c.14867T>C (p.Val4956Ala) c.14822T>C (p.Val4941Ala) c.11780T>C (p.Val3927Ala) c.7577T>C (p.Val2526Ala) n.92+169A>G | |
| 9 | g.130433452T>G | CA375219551 | HMCN2 | c.14942T>G (p.Val4981Gly) c.14999T>G (p.Val5000Gly) n.3345T>G c.14939T>G (p.Val4980Gly) c.14876T>G (p.Val4959Gly) c.14867T>G (p.Val4956Gly) c.14822T>G (p.Val4941Gly) c.11780T>G (p.Val3927Gly) c.7577T>G (p.Val2526Gly) n.92+169A>C | gnomAD v4 |
| 9 | g.130433452T= | CA1881266368 | HMCN2 | c.14942T= (p.Val4981=) c.14999T= (p.Val5000=) n.3345T= c.14939T= (p.Val4980=) c.14876T= (p.Val4959=) c.14867T= (p.Val4956=) c.14822T= (p.Val4941=) c.11780T= (p.Val3927=) c.7577T= (p.Val2526=) n.92+169A= | |
| 9 | g.130433453G>A | CA467387257 | HMCN2 | c.14943G>A (p.Val4981=) c.15000G>A (p.Val5000=) n.3346G>A c.14940G>A (p.Val4980=) c.14877G>A (p.Val4959=) c.14868G>A (p.Val4956=) c.14823G>A (p.Val4941=) c.11781G>A (p.Val3927=) c.7578G>A (p.Val2526=) n.92+168C>T | |
| 9 | g.130433453G>C | CA467387258 | HMCN2 | c.14943G>C (p.Val4981=) c.15000G>C (p.Val5000=) n.3346G>C c.14940G>C (p.Val4980=) c.14877G>C (p.Val4959=) c.14868G>C (p.Val4956=) c.14823G>C (p.Val4941=) c.11781G>C (p.Val3927=) c.7578G>C (p.Val2526=) n.92+168C>G | |
| 9 | g.130433453G>T | CA467387259 | HMCN2 | c.14943G>T (p.Val4981=) c.15000G>T (p.Val5000=) n.3346G>T c.14940G>T (p.Val4980=) c.14877G>T (p.Val4959=) c.14868G>T (p.Val4956=) c.14823G>T (p.Val4941=) c.11781G>T (p.Val3927=) c.7578G>T (p.Val2526=) n.92+168C>A | |
| 9 | g.130433454dup | CA860454588 | HMCN2 | c.14944dup (p.Ala4982GlyfsTer?) c.15001dup (p.Ala5001GlyfsTer?) n.3347dup c.14941dup (p.Ala4981GlyfsTer?) c.14878dup (p.Ala4960GlyfsTer?) c.14869dup (p.Ala4957GlyfsTer?) c.14824dup (p.Ala4942GlyfsTer?) c.11782dup (p.Ala3928GlyfsTer?) c.7579dup (p.Ala2527GlyfsTer?) n.92+168dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433454G>A | CA375219554 | HMCN2 | c.14944G>A (p.Ala4982Thr) c.15001G>A (p.Ala5001Thr) n.3347G>A c.14941G>A (p.Ala4981Thr) c.14878G>A (p.Ala4960Thr) c.14869G>A (p.Ala4957Thr) c.14824G>A (p.Ala4942Thr) c.11782G>A (p.Ala3928Thr) c.7579G>A (p.Ala2527Thr) n.92+167C>T | gnomAD v4 |
| 9 | g.130433454G>C | CA375219556 | HMCN2 | c.14944G>C (p.Ala4982Pro) c.15001G>C (p.Ala5001Pro) n.3347G>C c.14941G>C (p.Ala4981Pro) c.14878G>C (p.Ala4960Pro) c.14869G>C (p.Ala4957Pro) c.14824G>C (p.Ala4942Pro) c.11782G>C (p.Ala3928Pro) c.7579G>C (p.Ala2527Pro) n.92+167C>G | |
| 9 | g.130433454G= | CA1881266372 | HMCN2 | c.14944G= (p.Ala4982=) c.15001G= (p.Ala5001=) n.3347G= c.14941G= (p.Ala4981=) c.14878G= (p.Ala4960=) c.14869G= (p.Ala4957=) c.14824G= (p.Ala4942=) c.11782G= (p.Ala3928=) c.7579G= (p.Ala2527=) n.92+167C= | |
| 9 | g.130433454G>T | CA5283054 | HMCN2 | c.14944G>T (p.Ala4982Ser) c.15001G>T (p.Ala5001Ser) n.3347G>T c.14941G>T (p.Ala4981Ser) c.14878G>T (p.Ala4960Ser) c.14869G>T (p.Ala4957Ser) c.14824G>T (p.Ala4942Ser) c.11782G>T (p.Ala3928Ser) c.7579G>T (p.Ala2527Ser) n.92+167C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433455C>A | CA375219562 | HMCN2 | c.14945C>A (p.Ala4982Asp) c.15002C>A (p.Ala5001Asp) n.3348C>A c.14942C>A (p.Ala4981Asp) c.14879C>A (p.Ala4960Asp) c.14870C>A (p.Ala4957Asp) c.14825C>A (p.Ala4942Asp) c.11783C>A (p.Ala3928Asp) c.7580C>A (p.Ala2527Asp) n.92+166G>T | dbSNP gnomAD v4 |
| 9 | g.130433455C= | CA1881266376 | HMCN2 | c.14945C= (p.Ala4982=) c.15002C= (p.Ala5001=) n.3348C= c.14942C= (p.Ala4981=) c.14879C= (p.Ala4960=) c.14870C= (p.Ala4957=) c.14825C= (p.Ala4942=) c.11783C= (p.Ala3928=) c.7580C= (p.Ala2527=) n.92+166G= | |
| 9 | g.130433455C>G | CA375219561 | HMCN2 | c.14945C>G (p.Ala4982Gly) c.15002C>G (p.Ala5001Gly) n.3348C>G c.14942C>G (p.Ala4981Gly) c.14879C>G (p.Ala4960Gly) c.14870C>G (p.Ala4957Gly) c.14825C>G (p.Ala4942Gly) c.11783C>G (p.Ala3928Gly) c.7580C>G (p.Ala2527Gly) n.92+166G>C | |
| 9 | g.130433455C>T | CA375219558 | HMCN2 | c.14945C>T (p.Ala4982Val) c.15002C>T (p.Ala5001Val) n.3348C>T c.14942C>T (p.Ala4981Val) c.14879C>T (p.Ala4960Val) c.14870C>T (p.Ala4957Val) c.14825C>T (p.Ala4942Val) c.11783C>T (p.Ala3928Val) c.7580C>T (p.Ala2527Val) n.92+166G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433456C>A | CA467387261 | HMCN2 | c.14946C>A (p.Ala4982=) c.15003C>A (p.Ala5001=) n.3349C>A c.14943C>A (p.Ala4981=) c.14880C>A (p.Ala4960=) c.14871C>A (p.Ala4957=) c.14826C>A (p.Ala4942=) c.11784C>A (p.Ala3928=) c.7581C>A (p.Ala2527=) n.92+165G>T | |
| 9 | g.130433456C= | CA1881266378 | HMCN2 | c.14946C= (p.Ala4982=) c.15003C= (p.Ala5001=) n.3349C= c.14943C= (p.Ala4981=) c.14880C= (p.Ala4960=) c.14871C= (p.Ala4957=) c.14826C= (p.Ala4942=) c.11784C= (p.Ala3928=) c.7581C= (p.Ala2527=) n.92+165G= | |
| 9 | g.130433456C>G | CA467387262 | HMCN2 | c.14946C>G (p.Ala4982=) c.15003C>G (p.Ala5001=) n.3349C>G c.14943C>G (p.Ala4981=) c.14880C>G (p.Ala4960=) c.14871C>G (p.Ala4957=) c.14826C>G (p.Ala4942=) c.11784C>G (p.Ala3928=) c.7581C>G (p.Ala2527=) n.92+165G>C | |
| 9 | g.130433456C>T | CA200583181 | HMCN2 | c.14946C>T (p.Ala4982=) c.15003C>T (p.Ala5001=) n.3349C>T c.14943C>T (p.Ala4981=) c.14880C>T (p.Ala4960=) c.14871C>T (p.Ala4957=) c.14826C>T (p.Ala4942=) c.11784C>T (p.Ala3928=) c.7581C>T (p.Ala2527=) n.92+165G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433462_130433469dup | CA2692135591 | HMCN2 | c.14952_14959dup (p.Phe4987SerfsTer?) c.15009_15016dup (p.Phe5006SerfsTer?) n.3355_3362dup c.14949_14956dup (p.Phe4986SerfsTer?) c.14886_14893dup (p.Phe4965SerfsTer?) c.14877_14884dup (p.Phe4962SerfsTer?) c.14832_14839dup (p.Phe4947SerfsTer?) c.11790_11797dup (p.Phe3933SerfsTer?) c.7587_7594dup (p.Phe2532SerfsTer?) n.92+158_92+165dup | gnomAD v4 |
| 9 | g.130433457C>A | CA375219564 | HMCN2 | c.14947C>A (p.Arg4983Ser) c.15004C>A (p.Arg5002Ser) n.3350C>A c.14944C>A (p.Arg4982Ser) c.14881C>A (p.Arg4961Ser) c.14872C>A (p.Arg4958Ser) c.14827C>A (p.Arg4943Ser) c.11785C>A (p.Arg3929Ser) c.7582C>A (p.Arg2528Ser) n.92+164G>T | |
| 9 | g.130433457C= | CA1881266381 | HMCN2 | c.14947C= (p.Arg4983=) c.15004C= (p.Arg5002=) n.3350C= c.14944C= (p.Arg4982=) c.14881C= (p.Arg4961=) c.14872C= (p.Arg4958=) c.14827C= (p.Arg4943=) c.11785C= (p.Arg3929=) c.7582C= (p.Arg2528=) n.92+164G= | |
| 9 | g.130433457C>G | CA375219566 | HMCN2 | c.14947C>G (p.Arg4983Gly) c.15004C>G (p.Arg5002Gly) n.3350C>G c.14944C>G (p.Arg4982Gly) c.14881C>G (p.Arg4961Gly) c.14872C>G (p.Arg4958Gly) c.14827C>G (p.Arg4943Gly) c.11785C>G (p.Arg3929Gly) c.7582C>G (p.Arg2528Gly) n.92+164G>C | |
| 9 | g.130433457C>T | CA375219567 | HMCN2 | c.14947C>T (p.Arg4983Cys) c.15004C>T (p.Arg5002Cys) n.3350C>T c.14944C>T (p.Arg4982Cys) c.14881C>T (p.Arg4961Cys) c.14872C>T (p.Arg4958Cys) c.14827C>T (p.Arg4943Cys) c.11785C>T (p.Arg3929Cys) c.7582C>T (p.Arg2528Cys) n.92+164G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130433458G>A | CA375219569 | HMCN2 | c.14948G>A (p.Arg4983His) c.15005G>A (p.Arg5002His) n.3351G>A c.14945G>A (p.Arg4982His) c.14882G>A (p.Arg4961His) c.14873G>A (p.Arg4958His) c.14828G>A (p.Arg4943His) c.11786G>A (p.Arg3929His) c.7583G>A (p.Arg2528His) n.92+163C>T | dbSNP gnomAD v4 |
| 9 | g.130433458G>C | CA375219571 | HMCN2 | c.14948G>C (p.Arg4983Pro) c.15005G>C (p.Arg5002Pro) n.3351G>C c.14945G>C (p.Arg4982Pro) c.14882G>C (p.Arg4961Pro) c.14873G>C (p.Arg4958Pro) c.14828G>C (p.Arg4943Pro) c.11786G>C (p.Arg3929Pro) c.7583G>C (p.Arg2528Pro) n.92+163C>G | |
| 9 | g.130433458G= | CA1881266385 | HMCN2 | c.14948G= (p.Arg4983=) c.15005G= (p.Arg5002=) n.3351G= c.14945G= (p.Arg4982=) c.14882G= (p.Arg4961=) c.14873G= (p.Arg4958=) c.14828G= (p.Arg4943=) c.11786G= (p.Arg3929=) c.7583G= (p.Arg2528=) n.92+163C= | |
| 9 | g.130433458G>T | CA375219573 | HMCN2 | c.14948G>T (p.Arg4983Leu) c.15005G>T (p.Arg5002Leu) n.3351G>T c.14945G>T (p.Arg4982Leu) c.14882G>T (p.Arg4961Leu) c.14873G>T (p.Arg4958Leu) c.14828G>T (p.Arg4943Leu) c.11786G>T (p.Arg3929Leu) c.7583G>T (p.Arg2528Leu) n.92+163C>A | |
| 9 | g.130433459C>A | CA467387263 | HMCN2 | c.14949C>A (p.Arg4983=) c.15006C>A (p.Arg5002=) n.3352C>A c.14946C>A (p.Arg4982=) c.14883C>A (p.Arg4961=) c.14874C>A (p.Arg4958=) c.14829C>A (p.Arg4943=) c.11787C>A (p.Arg3929=) c.7584C>A (p.Arg2528=) n.92+162G>T | |
| 9 | g.130433459C= | CA1881266390 | HMCN2 | c.14949C= (p.Arg4983=) c.15006C= (p.Arg5002=) n.3352C= c.14946C= (p.Arg4982=) c.14883C= (p.Arg4961=) c.14874C= (p.Arg4958=) c.14829C= (p.Arg4943=) c.11787C= (p.Arg3929=) c.7584C= (p.Arg2528=) n.92+162G= | |
| 9 | g.130433459C>G | CA467387264 | HMCN2 | c.14949C>G (p.Arg4983=) c.15006C>G (p.Arg5002=) n.3352C>G c.14946C>G (p.Arg4982=) c.14883C>G (p.Arg4961=) c.14874C>G (p.Arg4958=) c.14829C>G (p.Arg4943=) c.11787C>G (p.Arg3929=) c.7584C>G (p.Arg2528=) n.92+162G>C | |
| 9 | g.130433459C>T | CA467387265 | HMCN2 | c.14949C>T (p.Arg4983=) c.15006C>T (p.Arg5002=) n.3352C>T c.14946C>T (p.Arg4982=) c.14883C>T (p.Arg4961=) c.14874C>T (p.Arg4958=) c.14829C>T (p.Arg4943=) c.11787C>T (p.Arg3929=) c.7584C>T (p.Arg2528=) n.92+162G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130433460C>A | CA375219578 | HMCN2 | c.14950C>A (p.Leu4984Ile) c.15007C>A (p.Leu5003Ile) n.3353C>A c.14947C>A (p.Leu4983Ile) c.14884C>A (p.Leu4962Ile) c.14875C>A (p.Leu4959Ile) c.14830C>A (p.Leu4944Ile) c.11788C>A (p.Leu3930Ile) c.7585C>A (p.Leu2529Ile) n.92+161G>T | |
| 9 | g.130433460C= | CA1881266393 | HMCN2 | c.14950C= (p.Leu4984=) c.15007C= (p.Leu5003=) n.3353C= c.14947C= (p.Leu4983=) c.14884C= (p.Leu4962=) c.14875C= (p.Leu4959=) c.14830C= (p.Leu4944=) c.11788C= (p.Leu3930=) c.7585C= (p.Leu2529=) n.92+161G= | |
| 9 | g.130433460C>G | CA375219575 | HMCN2 | c.14950C>G (p.Leu4984Val) c.15007C>G (p.Leu5003Val) n.3353C>G c.14947C>G (p.Leu4983Val) c.14884C>G (p.Leu4962Val) c.14875C>G (p.Leu4959Val) c.14830C>G (p.Leu4944Val) c.11788C>G (p.Leu3930Val) c.7585C>G (p.Leu2529Val) n.92+161G>C | |
| 9 | g.130433460C>T | CA200583207 | HMCN2 | c.14950C>T (p.Leu4984Phe) c.15007C>T (p.Leu5003Phe) n.3353C>T c.14947C>T (p.Leu4983Phe) c.14884C>T (p.Leu4962Phe) c.14875C>T (p.Leu4959Phe) c.14830C>T (p.Leu4944Phe) c.11788C>T (p.Leu3930Phe) c.7585C>T (p.Leu2529Phe) n.92+161G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130433461T>A | CA375219580 | HMCN2 | c.14951T>A (p.Leu4984His) c.15008T>A (p.Leu5003His) n.3354T>A c.14948T>A (p.Leu4983His) c.14885T>A (p.Leu4962His) c.14876T>A (p.Leu4959His) c.14831T>A (p.Leu4944His) c.11789T>A (p.Leu3930His) c.7586T>A (p.Leu2529His) n.92+160A>T | |
| 9 | g.130433461T>C | CA375219583 | HMCN2 | c.14951T>C (p.Leu4984Pro) c.15008T>C (p.Leu5003Pro) n.3354T>C c.14948T>C (p.Leu4983Pro) c.14885T>C (p.Leu4962Pro) c.14876T>C (p.Leu4959Pro) c.14831T>C (p.Leu4944Pro) c.11789T>C (p.Leu3930Pro) c.7586T>C (p.Leu2529Pro) n.92+160A>G | gnomAD v4 |
| 9 | g.130433461T>G | CA375219584 | HMCN2 | c.14951T>G (p.Leu4984Arg) c.15008T>G (p.Leu5003Arg) n.3354T>G c.14948T>G (p.Leu4983Arg) c.14885T>G (p.Leu4962Arg) c.14876T>G (p.Leu4959Arg) c.14831T>G (p.Leu4944Arg) c.11789T>G (p.Leu3930Arg) c.7586T>G (p.Leu2529Arg) n.92+160A>C | |
| 9 | g.130433462C>A | CA467387268 | HMCN2 | c.14952C>A (p.Leu4984=) c.15009C>A (p.Leu5003=) n.3355C>A c.14949C>A (p.Leu4983=) c.14886C>A (p.Leu4962=) c.14877C>A (p.Leu4959=) c.14832C>A (p.Leu4944=) c.11790C>A (p.Leu3930=) c.7587C>A (p.Leu2529=) n.92+159G>T | |
| 9 | g.130433462C= | CA1881266396 | HMCN2 | c.14952C= (p.Leu4984=) c.15009C= (p.Leu5003=) n.3355C= c.14949C= (p.Leu4983=) c.14886C= (p.Leu4962=) c.14877C= (p.Leu4959=) c.14832C= (p.Leu4944=) c.11790C= (p.Leu3930=) c.7587C= (p.Leu2529=) n.92+159G= | |
| 9 | g.130433462C>G | CA467387266 | HMCN2 | c.14952C>G (p.Leu4984=) c.15009C>G (p.Leu5003=) n.3355C>G c.14949C>G (p.Leu4983=) c.14886C>G (p.Leu4962=) c.14877C>G (p.Leu4959=) c.14832C>G (p.Leu4944=) c.11790C>G (p.Leu3930=) c.7587C>G (p.Leu2529=) n.92+159G>C | |
| 9 | g.130433462C>T | CA467387267 | HMCN2 | c.14952C>T (p.Leu4984=) c.15009C>T (p.Leu5003=) n.3355C>T c.14949C>T (p.Leu4983=) c.14886C>T (p.Leu4962=) c.14877C>T (p.Leu4959=) c.14832C>T (p.Leu4944=) c.11790C>T (p.Leu3930=) c.7587C>T (p.Leu2529=) n.92+159G>A | dbSNP gnomAD v2 gnomAD v4 |