| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.96145182del | CA2687993837 | GDF6 | c.752del (p.Gly251AspfsTer?) c.707-17del (n.707-17del) c.353del (p.Gly118AspfsTer?) | gnomAD v4 |
| 8 | g.96145180C>A | CA371751941 | GDF6 | c.751G>T (p.Gly251Ter) c.707-18G>T (n.707-18G>T) c.352G>T (p.Gly118Ter) | gnomAD v4 |
| 8 | g.96145180C= | CA1804262076 | GDF6 | c.751G= (p.Gly251=) c.707-18G= (n.707-18G=) c.352G= (p.Gly118=) | |
| 8 | g.96145180C>G | CA371751942 | GDF6 | c.751G>C (p.Gly251Arg) c.707-18G>C (n.707-18G>C) c.352G>C (p.Gly118Arg) | |
| 8 | g.96145180C>T | CA371751943 | GDF6 | c.751G>A (p.Gly251Arg) c.707-18G>A (n.707-18G>A) c.352G>A (p.Gly118Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145181C>A | CA462454591 | GDF6 | c.750G>T (p.Arg250=) c.707-19G>T (n.707-19G>T) c.351G>T (p.Arg117=) | gnomAD v4 |
| 8 | g.96145181C>G | CA462454593 | GDF6 | c.750G>C (p.Arg250=) c.707-19G>C (n.707-19G>C) c.351G>C (p.Arg117=) | |
| 8 | g.96145181C>T | CA462454590 | GDF6 | c.750G>A (p.Arg250=) c.707-19G>A (n.707-19G>A) c.351G>A (p.Arg117=) | gnomAD v4 |
| 8 | g.96145181_96145183delinsCCG | CA1804262083 | GDF6 | c.748_750delinsCGG (p.Arg250=) c.707-21_707-19delinsCGG (n.707-21_707-19delinsCGG) c.349_351delinsCGG (p.Arg117=) | |
| 8 | g.96145181_96145182insACA | CA2781376672 | GDF6 | c.749_750insTGT (p.Arg250_Gly251insVal) c.707-20_707-19insTGT (n.707-20_707-19insTGT) c.350_351insTGT (p.Arg117_Gly118insVal) | |
| 8 | g.96145182C>A | CA371751944 | GDF6 | c.749G>T (p.Arg250Leu) c.707-20G>T (n.707-20G>T) c.350G>T (p.Arg117Leu) | gnomAD v4 |
| 8 | g.96145182C= | CA1804262088 | GDF6 | c.749G= (p.Arg250=) c.707-20G= (n.707-20G=) c.350G= (p.Arg117=) | |
| 8 | g.96145182C>G | CA4815415 | GDF6 | c.749G>C (p.Arg250Pro) c.707-20G>C (n.707-20G>C) c.350G>C (p.Arg117Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96145182C>T | CA371751945 | GDF6 | c.749G>A (p.Arg250Gln) c.707-20G>A (n.707-20G>A) c.350G>A (p.Arg117Gln) | gnomAD v4 |
| 8 | g.96145191_96145192dup | CA1116878490 | GDF6 | c.748_749dup (p.Pro252AspfsTer?) c.707-21_707-20dup (n.707-21_707-20dup) c.349_350dup (p.Pro119AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96145191_96145192del | CA4815414 | GDF6 | c.748_749del (p.Arg250GlyfsTer?) c.707-21_707-20del (n.707-21_707-20del) c.349_350del (p.Arg117GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.96145183G>A | CA371751946 | GDF6 | c.748C>T (p.Arg250Trp) c.707-21C>T (n.707-21C>T) c.349C>T (p.Arg117Trp) | gnomAD v4 |
| 8 | g.96145183G>C | CA371751947 | GDF6 | c.748C>G (p.Arg250Gly) c.707-21C>G (n.707-21C>G) c.349C>G (p.Arg117Gly) | gnomAD v4 |
| 8 | g.96145183G>T | CA462454596 | GDF6 | c.748C>A (p.Arg250=) c.707-21C>A (n.707-21C>A) c.349C>A (p.Arg117=) | gnomAD v4 |
| 8 | g.96145184C>A | CA4815416 | GDF6 | c.747G>T (p.Ala249=) c.707-22G>T (n.707-22G>T) c.348G>T (p.Ala116=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96145184C= | CA1804262094 | GDF6 | c.747G= (p.Ala249=) c.707-22G= (n.707-22G=) c.348G= (p.Ala116=) | |
| 8 | g.96145184C>G | CA462454601 | GDF6 | c.747G>C (p.Ala249=) c.707-22G>C (n.707-22G>C) c.348G>C (p.Ala116=) | |
| 8 | g.96145184C>T | CA462454602 | GDF6 | c.747G>A (p.Ala249=) c.707-22G>A (n.707-22G>A) c.348G>A (p.Ala116=) | gnomAD v4 |
| 8 | g.96145185G>A | CA371751948 | GDF6 | c.746C>T (p.Ala249Val) c.707-23C>T (n.707-23C>T) c.347C>T (p.Ala116Val) | |
| 8 | g.96145185G>C | CA371751949 | GDF6 | c.746C>G (p.Ala249Gly) c.707-23C>G (n.707-23C>G) c.347C>G (p.Ala116Gly) | |
| 8 | g.96145185G= | CA1804262100 | GDF6 | c.746C= (p.Ala249=) c.707-23C= (n.707-23C=) c.347C= (p.Ala116=) | |
| 8 | g.96145185G>T | CA119555 | GDF6 | c.746C>A (p.Ala249Glu) c.707-23C>A (n.707-23C>A) c.347C>A (p.Ala116Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145186C>A | CA371751950 | GDF6 | c.745G>T (p.Ala249Ser) c.707-24G>T (n.707-24G>T) c.346G>T (p.Ala116Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96145186C= | CA1804262107 | GDF6 | c.745G= (p.Ala249=) c.707-24G= (n.707-24G=) c.346G= (p.Ala116=) | |
| 8 | g.96145186C>G | CA371751951 | GDF6 | c.745G>C (p.Ala249Pro) c.707-24G>C (n.707-24G>C) c.346G>C (p.Ala116Pro) | |
| 8 | g.96145186C>T | CA371751952 | GDF6 | c.745G>A (p.Ala249Thr) c.707-24G>A (n.707-24G>A) c.346G>A (p.Ala116Thr) | gnomAD v4 |
| 8 | g.96145187G>A | CA462454603 | GDF6 | c.744C>T (p.Arg248=) c.707-25C>T (n.707-25C>T) c.345C>T (p.Arg115=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145187G>C | CA462454604 | GDF6 | c.744C>G (p.Arg248=) c.707-25C>G (n.707-25C>G) c.345C>G (p.Arg115=) | gnomAD v4 |
| 8 | g.96145187G= | CA1804262110 | GDF6 | c.744C= (p.Arg248=) c.707-25C= (n.707-25C=) c.345C= (p.Arg115=) | |
| 8 | g.96145187G>T | CA462454606 | GDF6 | c.744C>A (p.Arg248=) c.707-25C>A (n.707-25C>A) c.345C>A (p.Arg115=) | gnomAD v4 |
| 8 | g.96145188C>A | CA4815417 | GDF6 | c.743G>T (p.Arg248Leu) c.707-26G>T (n.707-26G>T) c.344G>T (p.Arg115Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145188C= | CA1804262114 | GDF6 | c.743G= (p.Arg248=) c.707-26G= (n.707-26G=) c.344G= (p.Arg115=) | |
| 8 | g.96145188C>G | CA371751953 | GDF6 | c.743G>C (p.Arg248Pro) c.707-26G>C (n.707-26G>C) c.344G>C (p.Arg115Pro) | |
| 8 | g.96145188C>T | CA371751954 | GDF6 | c.743G>A (p.Arg248His) c.707-26G>A (n.707-26G>A) c.344G>A (p.Arg115His) | gnomAD v4 |
| 8 | g.96145189G>A | CA181485038 | GDF6 | c.742C>T (p.Arg248Cys) c.707-27C>T (n.707-27C>T) c.343C>T (p.Arg115Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.96145189G>C | CA371751955 | GDF6 | c.742C>G (p.Arg248Gly) c.707-27C>G (n.707-27C>G) c.343C>G (p.Arg115Gly) | |
| 8 | g.96145189G= | CA1804262122 | GDF6 | c.742C= (p.Arg248=) c.707-27C= (n.707-27C=) c.343C= (p.Arg115=) | |
| 8 | g.96145189G>T | CA4815418 | GDF6 | c.742C>A (p.Arg248Ser) c.707-27C>A (n.707-27C>A) c.343C>A (p.Arg115Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145189_96145190delinsTT | CA2573143518 | GDF6 | c.741_742delinsAA (p.Arg248Ser) c.707-28_707-27delinsAA (n.707-28_707-27delinsAA) c.342_343delinsAA (p.Arg115Ser) | ClinVar dbSNP |
| 8 | g.96145190C>A | CA462454609 | GDF6 | c.741G>T (p.Ala247=) c.707-28G>T (n.707-28G>T) c.342G>T (p.Ala114=) | gnomAD v4 |
| 8 | g.96145190C= | CA1804262127 | GDF6 | c.741G= (p.Ala247=) c.707-28G= (n.707-28G=) c.342G= (p.Ala114=) | |
| 8 | g.96145190C>G | CA462454611 | GDF6 | c.741G>C (p.Ala247=) c.707-28G>C (n.707-28G>C) c.342G>C (p.Ala114=) | |
| 8 | g.96145190C>T | CA4815419 | GDF6 | c.741G>A (p.Ala247=) c.707-28G>A (n.707-28G>A) c.342G>A (p.Ala114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145191del | CA2781376673 | GDF6 | c.740del (p.Ala247GlyfsTer?) c.707-29del (n.707-29del) c.341del (p.Ala114GlyfsTer?) | |
| 8 | g.96145191G>A | CA371751956 | GDF6 | c.740C>T (p.Ala247Val) c.707-29C>T (n.707-29C>T) c.341C>T (p.Ala114Val) | gnomAD v4 |
| 8 | g.96145191G>C | CA371751957 | GDF6 | c.740C>G (p.Ala247Gly) c.707-29C>G (n.707-29C>G) c.341C>G (p.Ala114Gly) | |
| 8 | g.96145191G= | CA1804262132 | GDF6 | c.740C= (p.Ala247=) c.707-29C= (n.707-29C=) c.341C= (p.Ala114=) | |
| 8 | g.96145191G>T | CA371751958 | GDF6 | c.740C>A (p.Ala247Glu) c.707-29C>A (n.707-29C>A) c.341C>A (p.Ala114Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145192C>A | CA371751959 | GDF6 | c.739G>T (p.Ala247Ser) c.707-30G>T (n.707-30G>T) c.340G>T (p.Ala114Ser) | gnomAD v4 |
| 8 | g.96145192C>G | CA371751960 | GDF6 | c.739G>C (p.Ala247Pro) c.707-30G>C (n.707-30G>C) c.340G>C (p.Ala114Pro) | |
| 8 | g.96145192C>T | CA371751961 | GDF6 | c.739G>A (p.Ala247Thr) c.707-30G>A (n.707-30G>A) c.340G>A (p.Ala114Thr) | |
| 8 | g.96145193C>A | CA371751962 | GDF6 | c.738G>T (p.Glu246Asp) c.707-31G>T (n.707-31G>T) c.339G>T (p.Glu113Asp) | gnomAD v4 |
| 8 | g.96145193C>G | CA371751963 | GDF6 | c.738G>C (p.Glu246Asp) c.707-31G>C (n.707-31G>C) c.339G>C (p.Glu113Asp) | |
| 8 | g.96145193C>T | CA462454618 | GDF6 | c.738G>A (p.Glu246=) c.707-31G>A (n.707-31G>A) c.339G>A (p.Glu113=) | |
| 8 | g.96145194del | CA2781376674 | GDF6 | c.737del (p.Glu246GlyfsTer?) c.707-32del (n.707-32del) c.338del (p.Glu113GlyfsTer?) | |
| 8 | g.96145194T>A | CA371751964 | GDF6 | c.737A>T (p.Glu246Val) c.707-32A>T (n.707-32A>T) c.338A>T (p.Glu113Val) | gnomAD v4 |
| 8 | g.96145194T>C | CA371751965 | GDF6 | c.737A>G (p.Glu246Gly) c.707-32A>G (n.707-32A>G) c.338A>G (p.Glu113Gly) | gnomAD v4 |
| 8 | g.96145194T>G | CA371751966 | GDF6 | c.737A>C (p.Glu246Ala) c.707-32A>C (n.707-32A>C) c.338A>C (p.Glu113Ala) | |
| 8 | g.96145195C>A | CA371751968 | GDF6 | c.736G>T (p.Glu246Ter) c.706+30G>T (n.706+30G>T) c.337G>T (p.Glu113Ter) | gnomAD v4 |
| 8 | g.96145195C= | CA1804262138 | GDF6 | c.736G= (p.Glu246=) c.706+30G= (n.706+30G=) c.337G= (p.Glu113=) | |
| 8 | g.96145195C>G | CA371751969 | GDF6 | c.736G>C (p.Glu246Gln) c.706+30G>C (n.706+30G>C) c.337G>C (p.Glu113Gln) | dbSNP |
| 8 | g.96145195C>T | CA371751967 | GDF6 | c.736G>A (p.Glu246Lys) c.706+30G>A (n.706+30G>A) c.337G>A (p.Glu113Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145196G>A | CA462454619 | GDF6 | c.735C>T (p.Ala245=) c.706+29C>T (n.706+29C>T) c.336C>T (p.Ala112=) | gnomAD v4 |
| 8 | g.96145196G>C | CA462454621 | GDF6 | c.735C>G (p.Ala245=) c.706+29C>G (n.706+29C>G) c.336C>G (p.Ala112=) | dbSNP |
| 8 | g.96145196G= | CA1804262147 | GDF6 | c.735C= (p.Ala245=) c.706+29C= (n.706+29C=) c.336C= (p.Ala112=) | |
| 8 | g.96145196G>T | CA462454623 | GDF6 | c.735C>A (p.Ala245=) c.706+29C>A (n.706+29C>A) c.336C>A (p.Ala112=) | gnomAD v4 |
| 8 | g.96145197G>A | CA371751970 | GDF6 | c.734C>T (p.Ala245Val) c.706+28C>T (n.706+28C>T) c.335C>T (p.Ala112Val) | gnomAD v4 |
| 8 | g.96145197G>C | CA371751971 | GDF6 | c.734C>G (p.Ala245Gly) c.706+28C>G (n.706+28C>G) c.335C>G (p.Ala112Gly) | |
| 8 | g.96145197G>T | CA371751972 | GDF6 | c.734C>A (p.Ala245Asp) c.706+28C>A (n.706+28C>A) c.335C>A (p.Ala112Asp) | gnomAD v4 |
| 8 | g.96145198C>A | CA371751973 | GDF6 | c.733G>T (p.Ala245Ser) c.706+27G>T (n.706+27G>T) c.334G>T (p.Ala112Ser) | gnomAD v4 |
| 8 | g.96145198C= | CA1804262156 | GDF6 | c.733G= (p.Ala245=) c.706+27G= (n.706+27G=) c.334G= (p.Ala112=) | |
| 8 | g.96145198C>G | CA371751974 | GDF6 | c.733G>C (p.Ala245Pro) c.706+27G>C (n.706+27G>C) c.334G>C (p.Ala112Pro) | |
| 8 | g.96145198C>T | CA4815420 | GDF6 | c.733G>A (p.Ala245Thr) c.706+27G>A (n.706+27G>A) c.334G>A (p.Ala112Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96145199C>A | CA371751975 | GDF6 | c.732G>T (p.Glu244Asp) c.706+26G>T (n.706+26G>T) c.333G>T (p.Glu111Asp) | dbSNP gnomAD v4 |
| 8 | g.96145199C= | CA1804262168 | GDF6 | c.732G= (p.Glu244=) c.706+26G= (n.706+26G=) c.333G= (p.Glu111=) | |
| 8 | g.96145199C>G | CA371751976 | GDF6 | c.732G>C (p.Glu244Asp) c.706+26G>C (n.706+26G>C) c.333G>C (p.Glu111Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145199C>T | CA462454628 | GDF6 | c.732G>A (p.Glu244=) c.706+26G>A (n.706+26G>A) c.333G>A (p.Glu111=) | |
| 8 | g.96145200T>A | CA371751977 | GDF6 | c.731A>T (p.Glu244Val) c.706+25A>T (n.706+25A>T) c.332A>T (p.Glu111Val) | |
| 8 | g.96145200T>C | CA371751978 | GDF6 | c.731A>G (p.Glu244Gly) c.706+25A>G (n.706+25A>G) c.332A>G (p.Glu111Gly) | gnomAD v4 |
| 8 | g.96145200T>G | CA371751979 | GDF6 | c.731A>C (p.Glu244Ala) c.706+25A>C (n.706+25A>C) c.332A>C (p.Glu111Ala) | dbSNP |
| 8 | g.96145200T= | CA1804262174 | GDF6 | c.731A= (p.Glu244=) c.706+25A= (n.706+25A=) c.332A= (p.Glu111=) | |
| 8 | g.96145200_96145201delinsTC | CA1804262173 | GDF6 | c.730_731delinsGA (p.Glu244=) c.706+24_706+25delinsGA (n.706+24_706+25delinsGA) c.331_332delinsGA (p.Glu111=) | |
| 8 | g.96145201C>A | CA371751980 | GDF6 | c.730G>T (p.Glu244Ter) c.706+24G>T (n.706+24G>T) c.331G>T (p.Glu111Ter) | gnomAD v4 |
| 8 | g.96145201C>G | CA371751981 | GDF6 | c.730G>C (p.Glu244Gln) c.706+24G>C (n.706+24G>C) c.331G>C (p.Glu111Gln) | |
| 8 | g.96145201C>T | CA371751982 | GDF6 | c.730G>A (p.Glu244Lys) c.706+24G>A (n.706+24G>A) c.331G>A (p.Glu111Lys) | gnomAD v4 |
| 8 | g.96145204del | CA583845619 | GDF6 | c.730del (p.Glu244ArgfsTer?) c.706+24del (n.706+24del) c.331del (p.Glu111ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145201_96145221dup | CA1116878503 | GDF6 | c.710_730dup (p.Gly243_Glu244insGlyGlyGluLeuAspAlaGly) c.706+4_706+24dup (n.706+4_706+24dup) c.311_331dup (p.Gly110_Glu111insGlyGlyGluLeuAspAlaGly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96145202C>A | CA462454639 | GDF6 | c.729G>T (p.Gly243=) c.706+23G>T (n.706+23G>T) c.330G>T (p.Gly110=) | gnomAD v4 |
| 8 | g.96145202C= | CA1804262184 | GDF6 | c.729G= (p.Gly243=) c.706+23G= (n.706+23G=) c.330G= (p.Gly110=) | |
| 8 | g.96145202C>G | CA462454636 | GDF6 | c.729G>C (p.Gly243=) c.706+23G>C (n.706+23G>C) c.330G>C (p.Gly110=) | |
| 8 | g.96145202C>T | CA4815421 | GDF6 | c.729G>A (p.Gly243=) c.706+23G>A (n.706+23G>A) c.330G>A (p.Gly110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96145203C>A | CA181485039 | GDF6 | c.728G>T (p.Gly243Val) c.706+22G>T (n.706+22G>T) c.329G>T (p.Gly110Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145203C= | CA1804262191 | GDF6 | c.728G= (p.Gly243=) c.706+22G= (n.706+22G=) c.329G= (p.Gly110=) | |
| 8 | g.96145203C>G | CA371751983 | GDF6 | c.728G>C (p.Gly243Ala) c.706+22G>C (n.706+22G>C) c.329G>C (p.Gly110Ala) | |
| 8 | g.96145203C>T | CA371751984 | GDF6 | c.728G>A (p.Gly243Glu) c.706+22G>A (n.706+22G>A) c.329G>A (p.Gly110Glu) | gnomAD v4 |
| 8 | g.96145204C>A | CA181485040 | GDF6 | c.727G>T (p.Gly243Trp) c.706+21G>T (n.706+21G>T) c.328G>T (p.Gly110Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145204C= | CA1804262201 | GDF6 | c.727G= (p.Gly243=) c.706+21G= (n.706+21G=) c.328G= (p.Gly110=) | |
| 8 | g.96145204C>G | CA371751985 | GDF6 | c.727G>C (p.Gly243Arg) c.706+21G>C (n.706+21G>C) c.328G>C (p.Gly110Arg) | gnomAD v4 |
| 8 | g.96145204C>T | CA371751986 | GDF6 | c.727G>A (p.Gly243Arg) c.706+21G>A (n.706+21G>A) c.328G>A (p.Gly110Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145205G>A | CA181485041 | GDF6 | c.726C>T (p.Ala242=) c.706+20C>T (n.706+20C>T) c.327C>T (p.Ala109=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145205G>C | CA462454645 | GDF6 | c.726C>G (p.Ala242=) c.706+20C>G (n.706+20C>G) c.327C>G (p.Ala109=) | |
| 8 | g.96145205G= | CA1804262212 | GDF6 | c.726C= (p.Ala242=) c.706+20C= (n.706+20C=) c.327C= (p.Ala109=) | |
| 8 | g.96145205G>T | CA462454646 | GDF6 | c.726C>A (p.Ala242=) c.706+20C>A (n.706+20C>A) c.327C>A (p.Ala109=) | gnomAD v4 |
| 8 | g.96145206G>A | CA371751988 | GDF6 | c.725C>T (p.Ala242Val) c.706+19C>T (n.706+19C>T) c.326C>T (p.Ala109Val) | ClinVar |
| 8 | g.96145206G>C | CA10605452 | GDF6 | c.725C>G (p.Ala242Gly) c.706+19C>G (n.706+19C>G) c.326C>G (p.Ala109Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145206G= | CA1804262220 | GDF6 | c.725C= (p.Ala242=) c.706+19C= (n.706+19C=) c.326C= (p.Ala109=) | |
| 8 | g.96145206G>T | CA371751987 | GDF6 | c.725C>A (p.Ala242Asp) c.706+19C>A (n.706+19C>A) c.326C>A (p.Ala109Asp) | gnomAD v4 |
| 8 | g.96145207_96145208del | CA2687993838 | GDF6 | c.724_725del (p.Ala242ArgfsTer?) c.706+18_706+19del (n.706+18_706+19del) c.325_326del (p.Ala109ArgfsTer?) | gnomAD v4 |
| 8 | g.96145207C>A | CA371751989 | GDF6 | c.724G>T (p.Ala242Ser) c.706+18G>T (n.706+18G>T) c.325G>T (p.Ala109Ser) | gnomAD v4 |
| 8 | g.96145207C= | CA1804262231 | GDF6 | c.724G= (p.Ala242=) c.706+18G= (n.706+18G=) c.325G= (p.Ala109=) | |
| 8 | g.96145207C>G | CA371751990 | GDF6 | c.724G>C (p.Ala242Pro) c.706+18G>C (n.706+18G>C) c.325G>C (p.Ala109Pro) | ClinVar gnomAD v4 |
| 8 | g.96145207C>T | CA4815422 | GDF6 | c.724G>A (p.Ala242Thr) c.706+18G>A (n.706+18G>A) c.325G>A (p.Ala109Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145208G>A | CA462454648 | GDF6 | c.723C>T (p.Asp241=) c.706+17C>T (n.706+17C>T) c.324C>T (p.Asp108=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145208G>C | CA371751991 | GDF6 | c.723C>G (p.Asp241Glu) c.706+17C>G (n.706+17C>G) c.324C>G (p.Asp108Glu) | |
| 8 | g.96145208G= | CA1804262232 | GDF6 | c.723C= (p.Asp241=) c.706+17C= (n.706+17C=) c.324C= (p.Asp108=) | |
| 8 | g.96145208G>T | CA371751992 | GDF6 | c.723C>A (p.Asp241Glu) c.706+17C>A (n.706+17C>A) c.324C>A (p.Asp108Glu) | gnomAD v4 |
| 8 | g.96145209T>A | CA371751995 | GDF6 | c.722A>T (p.Asp241Val) c.706+16A>T (n.706+16A>T) c.323A>T (p.Asp108Val) | |
| 8 | g.96145209T>C | CA371751993 | GDF6 | c.722A>G (p.Asp241Gly) c.706+16A>G (n.706+16A>G) c.323A>G (p.Asp108Gly) | gnomAD v4 |
| 8 | g.96145209T>G | CA371751994 | GDF6 | c.722A>C (p.Asp241Ala) c.706+16A>C (n.706+16A>C) c.323A>C (p.Asp108Ala) | |
| 8 | g.96145210C>A | CA371751996 | GDF6 | c.721G>T (p.Asp241Tyr) c.706+15G>T (n.706+15G>T) c.322G>T (p.Asp108Tyr) | gnomAD v4 |
| 8 | g.96145210C>G | CA371751997 | GDF6 | c.721G>C (p.Asp241His) c.706+15G>C (n.706+15G>C) c.322G>C (p.Asp108His) | gnomAD v4 |
| 8 | g.96145210C>T | CA371751998 | GDF6 | c.721G>A (p.Asp241Asn) c.706+15G>A (n.706+15G>A) c.322G>A (p.Asp108Asn) | |
| 8 | g.96145211C>A | CA462454654 | GDF6 | c.720G>T (p.Leu240=) c.706+14G>T (n.706+14G>T) c.321G>T (p.Leu107=) | gnomAD v4 |
| 8 | g.96145211C>G | CA462454655 | GDF6 | c.720G>C (p.Leu240=) c.706+14G>C (n.706+14G>C) c.321G>C (p.Leu107=) | |
| 8 | g.96145211C>T | CA462454656 | GDF6 | c.720G>A (p.Leu240=) c.706+14G>A (n.706+14G>A) c.321G>A (p.Leu107=) | gnomAD v4 |
| 8 | g.96145212A= | CA1804262240 | GDF6 | c.719T= (p.Leu240=) c.706+13T= (n.706+13T=) c.320T= (p.Leu107=) | |
| 8 | g.96145212A>C | CA371751999 | GDF6 | c.719T>G (p.Leu240Arg) c.706+13T>G (n.706+13T>G) c.320T>G (p.Leu107Arg) | |
| 8 | g.96145212A>G | CA181485042 | GDF6 | c.719T>C (p.Leu240Pro) c.706+13T>C (n.706+13T>C) c.320T>C (p.Leu107Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145212A>T | CA371752000 | GDF6 | c.719T>A (p.Leu240Gln) c.706+13T>A (n.706+13T>A) c.320T>A (p.Leu107Gln) | gnomAD v4 |
| 8 | g.96145213G>A | CA462454767 | GDF6 | c.718C>T (p.Leu240=) c.706+12C>T (n.706+12C>T) c.319C>T (p.Leu107=) | gnomAD v4 |
| 8 | g.96145213G>C | CA371752001 | GDF6 | c.718C>G (p.Leu240Val) c.706+12C>G (n.706+12C>G) c.319C>G (p.Leu107Val) | gnomAD v4 |
| 8 | g.96145213G>T | CA371752002 | GDF6 | c.718C>A (p.Leu240Met) c.706+12C>A (n.706+12C>A) c.319C>A (p.Leu107Met) | |
| 8 | g.96145214C>A | CA371752003 | GDF6 | c.717G>T (p.Glu239Asp) c.706+11G>T (n.706+11G>T) c.318G>T (p.Glu106Asp) | gnomAD v4 |
| 8 | g.96145214C>G | CA371752004 | GDF6 | c.717G>C (p.Glu239Asp) c.706+11G>C (n.706+11G>C) c.318G>C (p.Glu106Asp) | |
| 8 | g.96145214C>T | CA462454775 | GDF6 | c.717G>A (p.Glu239=) c.706+11G>A (n.706+11G>A) c.318G>A (p.Glu106=) | |
| 8 | g.96145215T>A | CA371752005 | GDF6 | c.716A>T (p.Glu239Val) c.706+10A>T (n.706+10A>T) c.317A>T (p.Glu106Val) | |
| 8 | g.96145215T>C | CA181485043 | GDF6 | c.716A>G (p.Glu239Gly) c.706+10A>G (n.706+10A>G) c.317A>G (p.Glu106Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145215T>G | CA371752006 | GDF6 | c.716A>C (p.Glu239Ala) c.706+10A>C (n.706+10A>C) c.317A>C (p.Glu106Ala) | |
| 8 | g.96145215T= | CA1804262252 | GDF6 | c.716A= (p.Glu239=) c.706+10A= (n.706+10A=) c.317A= (p.Glu106=) | |
| 8 | g.96145216C>A | CA371752007 | GDF6 | c.715G>T (p.Glu239Ter) c.706+9G>T (n.706+9G>T) c.316G>T (p.Glu106Ter) | |
| 8 | g.96145216C= | CA1804262262 | GDF6 | c.715G= (p.Glu239=) c.706+9G= (n.706+9G=) c.316G= (p.Glu106=) | |
| 8 | g.96145216C>G | CA371752009 | GDF6 | c.715G>C (p.Glu239Gln) c.706+9G>C (n.706+9G>C) c.316G>C (p.Glu106Gln) | |
| 8 | g.96145216C>T | CA371752008 | GDF6 | c.715G>A (p.Glu239Lys) c.706+9G>A (n.706+9G>A) c.316G>A (p.Glu106Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145217G>A | CA462454782 | GDF6 | c.714C>T (p.Gly238=) c.706+8C>T (n.706+8C>T) c.315C>T (p.Gly105=) | gnomAD v4 |
| 8 | g.96145217G>C | CA462454784 | GDF6 | c.714C>G (p.Gly238=) c.706+8C>G (n.706+8C>G) c.315C>G (p.Gly105=) | dbSNP gnomAD v4 |
| 8 | g.96145217G= | CA1804262275 | GDF6 | c.714C= (p.Gly238=) c.706+8C= (n.706+8C=) c.315C= (p.Gly105=) | |
| 8 | g.96145217G>T | CA462454786 | GDF6 | c.714C>A (p.Gly238=) c.706+8C>A (n.706+8C>A) c.315C>A (p.Gly105=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145218C>A | CA371752010 | GDF6 | c.713G>T (p.Gly238Val) c.706+7G>T (n.706+7G>T) c.314G>T (p.Gly105Val) | gnomAD v4 |
| 8 | g.96145218C>G | CA371752011 | GDF6 | c.713G>C (p.Gly238Ala) c.706+7G>C (n.706+7G>C) c.314G>C (p.Gly105Ala) | |
| 8 | g.96145218C>T | CA371752012 | GDF6 | c.713G>A (p.Gly238Asp) c.706+7G>A (n.706+7G>A) c.314G>A (p.Gly105Asp) | gnomAD v4 |
| 8 | g.96145219C>A | CA371752013 | GDF6 | c.712G>T (p.Gly238Cys) c.706+6G>T (n.706+6G>T) c.313G>T (p.Gly105Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145219C= | CA1804262285 | GDF6 | c.712G= (p.Gly238=) c.706+6G= (n.706+6G=) c.313G= (p.Gly105=) | |
| 8 | g.96145219C>G | CA371752014 | GDF6 | c.712G>C (p.Gly238Arg) c.706+6G>C (n.706+6G>C) c.313G>C (p.Gly105Arg) | |
| 8 | g.96145219C>T | CA371752015 | GDF6 | c.712G>A (p.Gly238Ser) c.706+6G>A (n.706+6G>A) c.313G>A (p.Gly105Ser) | |
| 8 | g.96145219_96145220insTGG | CA2687993840 | GDF6 | c.711_712insCCA (p.Trp237_Gly238insPro) c.706+5_706+6insCCA (n.706+5_706+6insCCA) c.312_313insCCA (p.Trp104_Gly105insPro) | gnomAD v4 |
| 8 | g.96145220C>A | CA371752016 | GDF6 | c.711G>T (p.Trp237Cys) c.706+5G>T (n.706+5G>T) c.312G>T (p.Trp104Cys) | gnomAD v4 |
| 8 | g.96145220C>G | CA371752017 | GDF6 | c.711G>C (p.Trp237Cys) c.706+5G>C (n.706+5G>C) c.312G>C (p.Trp104Cys) | gnomAD v4 |
| 8 | g.96145220C>T | CA371752018 | GDF6 | c.711G>A (p.Trp237Ter) c.706+5G>A (n.706+5G>A) c.312G>A (p.Trp104Ter) | gnomAD v4 |
| 8 | g.96145221C>A | CA371752019 | GDF6 | c.710G>T (p.Trp237Leu) c.706+4G>T (n.706+4G>T) c.311G>T (p.Trp104Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145221C= | CA1804262287 | GDF6 | c.710G= (p.Trp237=) c.706+4G= (n.706+4G=) c.311G= (p.Trp104=) | |
| 8 | g.96145221C>G | CA371752020 | GDF6 | c.710G>C (p.Trp237Ser) c.706+4G>C (n.706+4G>C) c.311G>C (p.Trp104Ser) | |
| 8 | g.96145221C>T | CA371752021 | GDF6 | c.710G>A (p.Trp237Ter) c.706+4G>A (n.706+4G>A) c.311G>A (p.Trp104Ter) | gnomAD v4 |
| 8 | g.96145222A= | CA1804262294 | GDF6 | c.709T= (p.Trp237=) c.706+3T= (n.706+3T=) c.310T= (p.Trp104=) | |
| 8 | g.96145222A>C | CA181485044 | GDF6 | c.709T>G (p.Trp237Gly) c.706+3T>G (n.706+3T>G) c.310T>G (p.Trp104Gly) | dbSNP gnomAD v4 |
| 8 | g.96145222A>G | CA371752022 | GDF6 | c.709T>C (p.Trp237Arg) c.706+3T>C (n.706+3T>C) c.310T>C (p.Trp104Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145222A>T | CA371752023 | GDF6 | c.709T>A (p.Trp237Arg) c.706+3T>A (n.706+3T>A) c.310T>A (p.Trp104Arg) | |
| 8 | g.96145223T>A | CA371752024 | GDF6 | c.708A>T (p.Ala236=) c.706+2A>T (n.706+2A>T) c.309A>T (p.Ala103=) | |
| 8 | g.96145223T>C | CA371752025 | GDF6 | c.708A>G (p.Ala236=) c.706+2A>G (n.706+2A>G) c.309A>G (p.Ala103=) | gnomAD v4 |
| 8 | g.96145223T>G | CA371752026 | GDF6 | c.708A>C (p.Ala236=) c.706+2A>C (n.706+2A>C) c.309A>C (p.Ala103=) | |
| 8 | g.96145224G>A | CA4815423 | GDF6 | c.707C>T (p.Ala236Val) c.706+1C>T (n.706+1C>T) c.308C>T (p.Ala103Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96145224G>C | CA371752027 | GDF6 | c.707C>G (p.Ala236Gly) c.706+1C>G (n.706+1C>G) c.308C>G (p.Ala103Gly) | |
| 8 | g.96145224G= | CA1804262299 | GDF6 | c.707C= (p.Ala236=) c.706+1C= (n.706+1C=) c.308C= (p.Ala103=) | |
| 8 | g.96145224G>T | CA371752028 | GDF6 | c.707C>A (p.Ala236Glu) c.706+1C>A (n.706+1C>A) c.308C>A (p.Ala103Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145225C>A | CA181485045 | GDF6 | c.706G>T (p.Ala236Ser) c.307G>T (p.Ala103Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145225C= | CA1804262302 | GDF6 | c.706G= (p.Ala236=) c.307G= (p.Ala103=) | |
| 8 | g.96145225C>G | CA371752029 | GDF6 | c.706G>C (p.Ala236Pro) c.307G>C (p.Ala103Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96145225C>T | CA371752030 | GDF6 | c.706G>A (p.Ala236Thr) c.307G>A (p.Ala103Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145226G>A | CA462454802 | GDF6 | c.705C>T (p.Ala235=) c.306C>T (p.Ala102=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145226G>C | CA462454803 | GDF6 | c.705C>G (p.Ala235=) c.306C>G (p.Ala102=) | |
| 8 | g.96145226G= | CA1804262307 | GDF6 | c.705C= (p.Ala235=) c.306C= (p.Ala102=) | |
| 8 | g.96145226G>T | CA462454804 | GDF6 | c.705C>A (p.Ala235=) c.306C>A (p.Ala102=) | gnomAD v4 |
| 8 | g.96145227G>A | CA371752031 | GDF6 | c.704C>T (p.Ala235Val) c.305C>T (p.Ala102Val) | gnomAD v4 |
| 8 | g.96145227G>C | CA371752032 | GDF6 | c.704C>G (p.Ala235Gly) c.305C>G (p.Ala102Gly) | |
| 8 | g.96145227G= | CA1804262315 | GDF6 | c.704C= (p.Ala235=) c.305C= (p.Ala102=) | |
| 8 | g.96145227G>T | CA371752033 | GDF6 | c.704C>A (p.Ala235Asp) c.305C>A (p.Ala102Asp) | dbSNP gnomAD v4 |
| 8 | g.96145228C>A | CA371752035 | GDF6 | c.703G>T (p.Ala235Ser) c.304G>T (p.Ala102Ser) | gnomAD v4 COSMIC |
| 8 | g.96145228C= | CA1804262324 | GDF6 | c.703G= (p.Ala235=) c.304G= (p.Ala102=) | |
| 8 | g.96145228C>G | CA371752036 | GDF6 | c.703G>C (p.Ala235Pro) c.304G>C (p.Ala102Pro) | gnomAD v4 |
| 8 | g.96145228C>T | CA371752034 | GDF6 | c.703G>A (p.Ala235Thr) c.304G>A (p.Ala102Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145229C>A | CA462454811 | GDF6 | c.702G>T (p.Arg234=) c.303G>T (p.Arg101=) | gnomAD v4 |
| 8 | g.96145229C>G | CA462454812 | GDF6 | c.702G>C (p.Arg234=) c.303G>C (p.Arg101=) | gnomAD v4 |
| 8 | g.96145229C>T | CA462454814 | GDF6 | c.702G>A (p.Arg234=) c.303G>A (p.Arg101=) | |
| 8 | g.96145230C>A | CA4815424 | GDF6 | c.701G>T (p.Arg234Leu) c.302G>T (p.Arg101Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145230C= | CA1804262330 | GDF6 | c.701G= (p.Arg234=) c.302G= (p.Arg101=) | |
| 8 | g.96145230C>G | CA371752037 | GDF6 | c.701G>C (p.Arg234Pro) c.302G>C (p.Arg101Pro) | |
| 8 | g.96145230C>T | CA371752038 | GDF6 | c.701G>A (p.Arg234Gln) c.302G>A (p.Arg101Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.96145231G>A | CA371752039 | GDF6 | c.700C>T (p.Arg234Trp) c.301C>T (p.Arg101Trp) | gnomAD v4 |
| 8 | g.96145231G>C | CA371752040 | GDF6 | c.700C>G (p.Arg234Gly) c.301C>G (p.Arg101Gly) | gnomAD v4 |
| 8 | g.96145231G= | CA1804262341 | GDF6 | c.700C= (p.Arg234=) c.301C= (p.Arg101=) | |
| 8 | g.96145231G>T | CA181485046 | GDF6 | c.700C>A (p.Arg234=) c.301C>A (p.Arg101=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145232C>A | CA462454820 | GDF6 | c.699G>T (p.Leu233=) c.300G>T (p.Leu100=) | gnomAD v4 |
| 8 | g.96145232C>G | CA462454822 | GDF6 | c.699G>C (p.Leu233=) c.300G>C (p.Leu100=) | gnomAD v4 |
| 8 | g.96145232C>T | CA462454824 | GDF6 | c.699G>A (p.Leu233=) c.300G>A (p.Leu100=) | gnomAD v4 |
| 8 | g.96145233A>C | CA371752041 | GDF6 | c.698T>G (p.Leu233Arg) c.299T>G (p.Leu100Arg) | |
| 8 | g.96145233A>G | CA371752042 | GDF6 | c.698T>C (p.Leu233Pro) c.299T>C (p.Leu100Pro) | gnomAD v4 |
| 8 | g.96145233A>T | CA371752043 | GDF6 | c.698T>A (p.Leu233Gln) c.299T>A (p.Leu100Gln) | gnomAD v4 |
| 8 | g.96145234G>A | CA462454826 | GDF6 | c.697C>T (p.Leu233=) c.298C>T (p.Leu100=) | gnomAD v4 |
| 8 | g.96145234G>C | CA371752044 | GDF6 | c.697C>G (p.Leu233Val) c.298C>G (p.Leu100Val) | gnomAD v4 |
| 8 | g.96145234G>T | CA371752045 | GDF6 | c.697C>A (p.Leu233Met) c.298C>A (p.Leu100Met) | gnomAD v4 |
| 8 | g.96145235C>A | CA371752046 | GDF6 | c.696G>T (p.Glu232Asp) c.297G>T (p.Glu99Asp) | gnomAD v4 |
| 8 | g.96145235C>G | CA371752047 | GDF6 | c.696G>C (p.Glu232Asp) c.297G>C (p.Glu99Asp) | |
| 8 | g.96145235C>T | CA462454828 | GDF6 | c.696G>A (p.Glu232=) c.297G>A (p.Glu99=) | gnomAD v4 |
| 8 | g.96145236T>A | CA371752048 | GDF6 | c.695A>T (p.Glu232Val) c.296A>T (p.Glu99Val) | gnomAD v4 |
| 8 | g.96145236T>C | CA371752049 | GDF6 | c.695A>G (p.Glu232Gly) c.296A>G (p.Glu99Gly) | gnomAD v4 |
| 8 | g.96145236T>G | CA371752050 | GDF6 | c.695A>C (p.Glu232Ala) c.296A>C (p.Glu99Ala) | |
| 8 | g.96145237C>A | CA371752051 | GDF6 | c.694G>T (p.Glu232Ter) c.295G>T (p.Glu99Ter) | gnomAD v4 |
| 8 | g.96145237C= | CA1804262349 | GDF6 | c.694G= (p.Glu232=) c.295G= (p.Glu99=) | |
| 8 | g.96145237C>G | CA371752052 | GDF6 | c.694G>C (p.Glu232Gln) c.295G>C (p.Glu99Gln) | |
| 8 | g.96145237C>T | CA371752053 | GDF6 | c.694G>A (p.Glu232Lys) c.295G>A (p.Glu99Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145238C>A | CA371752055 | GDF6 | c.693G>T (p.Leu231Phe) c.294G>T (p.Leu98Phe) | |
| 8 | g.96145238C>G | CA371752054 | GDF6 | c.693G>C (p.Leu231Phe) c.294G>C (p.Leu98Phe) | |
| 8 | g.96145238C>T | CA462454835 | GDF6 | c.693G>A (p.Leu231=) c.294G>A (p.Leu98=) | gnomAD v4 |
| 8 | g.96145239A>C | CA371752056 | GDF6 | c.692T>G (p.Leu231Trp) c.293T>G (p.Leu98Trp) | |
| 8 | g.96145239A>G | CA371752057 | GDF6 | c.692T>C (p.Leu231Ser) c.293T>C (p.Leu98Ser) | gnomAD v4 |
| 8 | g.96145239A>T | CA371752058 | GDF6 | c.692T>A (p.Leu231Ter) c.293T>A (p.Leu98Ter) | |
| 8 | g.96145240A>C | CA371752059 | GDF6 | c.691T>G (p.Leu231Val) c.292T>G (p.Leu98Val) | |
| 8 | g.96145240A>G | CA462454844 | GDF6 | c.691T>C (p.Leu231=) c.292T>C (p.Leu98=) | gnomAD v4 |
| 8 | g.96145240A>T | CA371752060 | GDF6 | c.691T>A (p.Leu231Met) c.292T>A (p.Leu98Met) | |
| 8 | g.96145241G>A | CA462454845 | GDF6 | c.690C>T (p.Cys230=) c.291C>T (p.Cys97=) | |
| 8 | g.96145241G>C | CA371752061 | GDF6 | c.690C>G (p.Cys230Trp) c.291C>G (p.Cys97Trp) | |
| 8 | g.96145241G>T | CA371752062 | GDF6 | c.690C>A (p.Cys230Ter) c.291C>A (p.Cys97Ter) | gnomAD v4 |
| 8 | g.96145242C>A | CA371752063 | GDF6 | c.689G>T (p.Cys230Phe) c.290G>T (p.Cys97Phe) | gnomAD v4 |
| 8 | g.96145242C= | CA1804262356 | GDF6 | c.689G= (p.Cys230=) c.290G= (p.Cys97=) | |
| 8 | g.96145242C>G | CA371752064 | GDF6 | c.689G>C (p.Cys230Ser) c.290G>C (p.Cys97Ser) | |
| 8 | g.96145242C>T | CA371752065 | GDF6 | c.689G>A (p.Cys230Tyr) c.290G>A (p.Cys97Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96145243A>C | CA371752066 | GDF6 | c.688T>G (p.Cys230Gly) c.289T>G (p.Cys97Gly) | |
| 8 | g.96145243A>G | CA371752067 | GDF6 | c.688T>C (p.Cys230Arg) c.289T>C (p.Cys97Arg) | gnomAD v4 |
| 8 | g.96145243A>T | CA371752068 | GDF6 | c.688T>A (p.Cys230Ser) c.289T>A (p.Cys97Ser) | |
| 8 | g.96145244C>A | CA462454852 | GDF6 | c.687G>T (p.Leu229=) c.288G>T (p.Leu96=) | |
| 8 | g.96145244C>G | CA462454853 | GDF6 | c.687G>C (p.Leu229=) c.288G>C (p.Leu96=) | |
| 8 | g.96145244C>T | CA462454854 | GDF6 | c.687G>A (p.Leu229=) c.288G>A (p.Leu96=) | gnomAD v4 |
| 8 | g.96145245A>C | CA371752071 | GDF6 | c.686T>G (p.Leu229Arg) c.287T>G (p.Leu96Arg) | |
| 8 | g.96145245A>G | CA371752070 | GDF6 | c.686T>C (p.Leu229Pro) c.287T>C (p.Leu96Pro) | gnomAD v4 |
| 8 | g.96145245A>T | CA371752069 | GDF6 | c.686T>A (p.Leu229Gln) c.287T>A (p.Leu96Gln) | gnomAD v4 |
| 8 | g.96145246G>A | CA462454857 | GDF6 | c.685C>T (p.Leu229=) c.286C>T (p.Leu96=) | dbSNP gnomAD v4 |
| 8 | g.96145246G>C | CA371752073 | GDF6 | c.685C>G (p.Leu229Val) c.286C>G (p.Leu96Val) | |
| 8 | g.96145246G= | CA1804262359 | GDF6 | c.685C= (p.Leu229=) c.286C= (p.Leu96=) | |
| 8 | g.96145246G>T | CA371752072 | GDF6 | c.685C>A (p.Leu229Met) c.286C>A (p.Leu96Met) | dbSNP gnomAD v4 |
| 8 | g.96145247C>A | CA181485047 | GDF6 | c.684G>T (p.Gln228His) c.285G>T (p.Gln95His) | dbSNP gnomAD v4 |
| 8 | g.96145247C= | CA1804262364 | GDF6 | c.684G= (p.Gln228=) c.285G= (p.Gln95=) | |
| 8 | g.96145247C>G | CA371752074 | GDF6 | c.684G>C (p.Gln228His) c.285G>C (p.Gln95His) | ClinVar dbSNP |
| 8 | g.96145247C>T | CA462454862 | GDF6 | c.684G>A (p.Gln228=) c.285G>A (p.Gln95=) | gnomAD v4 |
| 8 | g.96145248T>A | CA371752075 | GDF6 | c.683A>T (p.Gln228Leu) c.284A>T (p.Gln95Leu) | |
| 8 | g.96145248T>C | CA371752076 | GDF6 | c.683A>G (p.Gln228Arg) c.284A>G (p.Gln95Arg) | dbSNP gnomAD v2 |
| 8 | g.96145248T>G | CA371752077 | GDF6 | c.683A>C (p.Gln228Pro) c.284A>C (p.Gln95Pro) | |
| 8 | g.96145248T= | CA1804262372 | GDF6 | c.683A= (p.Gln228=) c.284A= (p.Gln95=) | |
| 8 | g.96145249G>A | CA371752080 | GDF6 | c.682C>T (p.Gln228Ter) c.283C>T (p.Gln95Ter) | ClinVar gnomAD v4 |
| 8 | g.96145249G>C | CA371752078 | GDF6 | c.682C>G (p.Gln228Glu) c.283C>G (p.Gln95Glu) | |
| 8 | g.96145249G>T | CA371752079 | GDF6 | c.682C>A (p.Gln228Lys) c.283C>A (p.Gln95Lys) | dbSNP gnomAD v4 |
| 8 | g.96145250C>A | CA371752081 | GDF6 | c.681G>T (p.Lys227Asn) c.282G>T (p.Lys94Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145250C= | CA1804262381 | GDF6 | c.681G= (p.Lys227=) c.282G= (p.Lys94=) | |
| 8 | g.96145250C>G | CA371752082 | GDF6 | c.681G>C (p.Lys227Asn) c.282G>C (p.Lys94Asn) | |
| 8 | g.96145250C>T | CA181485048 | GDF6 | c.681G>A (p.Lys227=) c.282G>A (p.Lys94=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145251T>A | CA371752083 | GDF6 | c.680A>T (p.Lys227Met) c.281A>T (p.Lys94Met) | |
| 8 | g.96145251T>C | CA371752084 | GDF6 | c.680A>G (p.Lys227Arg) c.281A>G (p.Lys94Arg) | |
| 8 | g.96145251T>G | CA371752085 | GDF6 | c.680A>C (p.Lys227Thr) c.281A>C (p.Lys94Thr) | gnomAD v4 |
| 8 | g.96145252del | CA2687993843 | GDF6 | c.680del (p.Lys227SerfsTer?) c.281del (p.Lys94SerfsTer?) | gnomAD v4 |
| 8 | g.96145252T>A | CA371752086 | GDF6 | c.679A>T (p.Lys227Ter) c.280A>T (p.Lys94Ter) | gnomAD v4 |
| 8 | g.96145252T>C | CA371752088 | GDF6 | c.679A>G (p.Lys227Glu) c.280A>G (p.Lys94Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145252T>G | CA371752087 | GDF6 | c.679A>C (p.Lys227Gln) c.280A>C (p.Lys94Gln) | |
| 8 | g.96145252T= | CA1804262391 | GDF6 | c.679A= (p.Lys227=) c.280A= (p.Lys94=) | |
| 8 | g.96145253C>A | CA371752089 | GDF6 | c.678G>T (p.Trp226Cys) c.279G>T (p.Trp93Cys) | gnomAD v4 |
| 8 | g.96145253C>G | CA371752090 | GDF6 | c.678G>C (p.Trp226Cys) c.279G>C (p.Trp93Cys) | gnomAD v4 |
| 8 | g.96145253C>T | CA371752091 | GDF6 | c.678G>A (p.Trp226Ter) c.279G>A (p.Trp93Ter) | gnomAD v4 |
| 8 | g.96145254C>A | CA371752092 | GDF6 | c.677G>T (p.Trp226Leu) c.278G>T (p.Trp93Leu) | gnomAD v4 |
| 8 | g.96145254C>G | CA371752093 | GDF6 | c.677G>C (p.Trp226Ser) c.278G>C (p.Trp93Ser) | |
| 8 | g.96145254C>T | CA371752094 | GDF6 | c.677G>A (p.Trp226Ter) c.278G>A (p.Trp93Ter) | gnomAD v4 |
| 8 | g.96145255A= | CA1804262402 | GDF6 | c.676T= (p.Trp226=) c.277T= (p.Trp93=) | |
| 8 | g.96145255A>C | CA371752095 | GDF6 | c.676T>G (p.Trp226Gly) c.277T>G (p.Trp93Gly) | |
| 8 | g.96145255A>G | CA371752096 | GDF6 | c.676T>C (p.Trp226Arg) c.277T>C (p.Trp93Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145255A>T | CA371752097 | GDF6 | c.676T>A (p.Trp226Arg) c.277T>A (p.Trp93Arg) | gnomAD v4 |
| 8 | g.96145256G>A | CA462454881 | GDF6 | c.675C>T (p.Pro225=) c.276C>T (p.Pro92=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145256G>C | CA462454880 | GDF6 | c.675C>G (p.Pro225=) c.276C>G (p.Pro92=) | |
| 8 | g.96145256G= | CA1804262411 | GDF6 | c.675C= (p.Pro225=) c.276C= (p.Pro92=) | |
| 8 | g.96145256G>T | CA462454878 | GDF6 | c.675C>A (p.Pro225=) c.276C>A (p.Pro92=) | |
| 8 | g.96145257G>A | CA371752098 | GDF6 | c.674C>T (p.Pro225Leu) c.275C>T (p.Pro92Leu) | gnomAD v4 |
| 8 | g.96145257G>C | CA371752099 | GDF6 | c.674C>G (p.Pro225Arg) c.275C>G (p.Pro92Arg) | |
| 8 | g.96145257G>T | CA371752100 | GDF6 | c.674C>A (p.Pro225His) c.275C>A (p.Pro92His) | gnomAD v4 |
| 8 | g.96145258G>A | CA371752102 | GDF6 | c.673C>T (p.Pro225Ser) c.274C>T (p.Pro92Ser) | dbSNP gnomAD v4 |
| 8 | g.96145258G>C | CA371752103 | GDF6 | c.673C>G (p.Pro225Ala) c.274C>G (p.Pro92Ala) | gnomAD v4 |
| 8 | g.96145258G>T | CA371752101 | GDF6 | c.673C>A (p.Pro225Thr) c.274C>A (p.Pro92Thr) | gnomAD v4 |
| 8 | g.96145259C>A | CA371752104 | GDF6 | c.672G>T (p.Gln224His) c.273G>T (p.Gln91His) | gnomAD v4 |
| 8 | g.96145259C= | CA1804262417 | GDF6 | c.672G= (p.Gln224=) c.273G= (p.Gln91=) | |
| 8 | g.96145259C>G | CA371752105 | GDF6 | c.672G>C (p.Gln224His) c.273G>C (p.Gln91His) | |
| 8 | g.96145259C>T | CA462454890 | GDF6 | c.672G>A (p.Gln224=) c.273G>A (p.Gln91=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145260T>A | CA371752106 | GDF6 | c.671A>T (p.Gln224Leu) c.272A>T (p.Gln91Leu) | gnomAD v4 |
| 8 | g.96145260T>C | CA371752107 | GDF6 | c.671A>G (p.Gln224Arg) c.272A>G (p.Gln91Arg) | |
| 8 | g.96145260T>G | CA371752108 | GDF6 | c.671A>C (p.Gln224Pro) c.272A>C (p.Gln91Pro) | |
| 8 | g.96145261G>A | CA371752109 | GDF6 | c.670C>T (p.Gln224Ter) c.271C>T (p.Gln91Ter) | |
| 8 | g.96145261G>C | CA371752110 | GDF6 | c.670C>G (p.Gln224Glu) c.271C>G (p.Gln91Glu) | dbSNP gnomAD v4 |
| 8 | g.96145261G= | CA1804262421 | GDF6 | c.670C= (p.Gln224=) c.271C= (p.Gln91=) | |
| 8 | g.96145261G>T | CA371752111 | GDF6 | c.670C>A (p.Gln224Lys) c.271C>A (p.Gln91Lys) | gnomAD v4 |
| 8 | g.96145262G>A | CA462454893 | GDF6 | c.669C>T (p.His223=) c.270C>T (p.His90=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96145262G>C | CA371752112 | GDF6 | c.669C>G (p.His223Gln) c.270C>G (p.His90Gln) | |
| 8 | g.96145262G= | CA1804262427 | GDF6 | c.669C= (p.His223=) c.270C= (p.His90=) | |
| 8 | g.96145262G>T | CA371752113 | GDF6 | c.669C>A (p.His223Gln) c.270C>A (p.His90Gln) | gnomAD v4 |
| 8 | g.96145263T>A | CA371752114 | GDF6 | c.668A>T (p.His223Leu) c.269A>T (p.His90Leu) | |
| 8 | g.96145263T>C | CA371752115 | GDF6 | c.668A>G (p.His223Arg) c.269A>G (p.His90Arg) | |
| 8 | g.96145263T>G | CA371752116 | GDF6 | c.668A>C (p.His223Pro) c.269A>C (p.His90Pro) | |
| 8 | g.96145264G>A | CA371752119 | GDF6 | c.667C>T (p.His223Tyr) c.268C>T (p.His90Tyr) | |
| 8 | g.96145264G>C | CA371752118 | GDF6 | c.667C>G (p.His223Asp) c.268C>G (p.His90Asp) | |
| 8 | g.96145264G>T | CA371752117 | GDF6 | c.667C>A (p.His223Asn) c.268C>A (p.His90Asn) | |
| 8 | g.96145265G>A | CA462454895 | GDF6 | c.666C>T (p.Arg222=) c.267C>T (p.Arg89=) | gnomAD v4 |
| 8 | g.96145265G>C | CA462454896 | GDF6 | c.666C>G (p.Arg222=) c.267C>G (p.Arg89=) | |
| 8 | g.96145265G>T | CA462454897 | GDF6 | c.666C>A (p.Arg222=) c.267C>A (p.Arg89=) | gnomAD v4 |
| 8 | g.96145266C>A | CA371752120 | GDF6 | c.665G>T (p.Arg222Leu) c.266G>T (p.Arg89Leu) | gnomAD v4 |
| 8 | g.96145266C= | CA1804262431 | GDF6 | c.665G= (p.Arg222=) c.266G= (p.Arg89=) | |
| 8 | g.96145266C>G | CA371752121 | GDF6 | c.665G>C (p.Arg222Pro) c.266G>C (p.Arg89Pro) | |
| 8 | g.96145266C>T | CA371752122 | GDF6 | c.665G>A (p.Arg222His) c.266G>A (p.Arg89His) | dbSNP gnomAD v4 |
| 8 | g.96145267G>A | CA371752123 | GDF6 | c.664C>T (p.Arg222Cys) c.265C>T (p.Arg89Cys) | gnomAD v4 |
| 8 | g.96145267G>C | CA371752124 | GDF6 | c.664C>G (p.Arg222Gly) c.265C>G (p.Arg89Gly) | |
| 8 | g.96145267G>T | CA371752125 | GDF6 | c.664C>A (p.Arg222Ser) c.265C>A (p.Arg89Ser) | gnomAD v4 |
| 8 | g.96145268C>A | CA462454912 | GDF6 | c.663G>T (p.Leu221=) c.264G>T (p.Leu88=) | gnomAD v4 |
| 8 | g.96145268C>G | CA462454914 | GDF6 | c.663G>C (p.Leu221=) c.264G>C (p.Leu88=) | |
| 8 | g.96145268C>T | CA462454916 | GDF6 | c.663G>A (p.Leu221=) c.264G>A (p.Leu88=) | |
| 8 | g.96145269A>C | CA371752126 | GDF6 | c.662T>G (p.Leu221Arg) c.263T>G (p.Leu88Arg) | |
| 8 | g.96145269A>G | CA371752127 | GDF6 | c.662T>C (p.Leu221Pro) c.263T>C (p.Leu88Pro) | gnomAD v4 |
| 8 | g.96145269A>T | CA371752128 | GDF6 | c.662T>A (p.Leu221Gln) c.263T>A (p.Leu88Gln) | gnomAD v4 |
| 8 | g.96145270G>A | CA462454919 | GDF6 | c.661C>T (p.Leu221=) c.262C>T (p.Leu88=) | |
| 8 | g.96145270G>C | CA371752129 | GDF6 | c.661C>G (p.Leu221Val) c.262C>G (p.Leu88Val) | |
| 8 | g.96145270G>T | CA371752130 | GDF6 | c.661C>A (p.Leu221Met) c.262C>A (p.Leu88Met) | |
| 8 | g.96145271G>A | CA462454925 | GDF6 | c.660C>T (p.Gly220=) c.261C>T (p.Gly87=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96145271G>C | CA462454924 | GDF6 | c.660C>G (p.Gly220=) c.261C>G (p.Gly87=) | |
| 8 | g.96145271G= | CA1804262435 | GDF6 | c.660C= (p.Gly220=) c.261C= (p.Gly87=) | |
| 8 | g.96145271G>T | CA462454923 | GDF6 | c.660C>A (p.Gly220=) c.261C>A (p.Gly87=) | gnomAD v4 |
| 8 | g.96145272C>A | CA371752131 | GDF6 | c.659G>T (p.Gly220Val) c.260G>T (p.Gly87Val) | gnomAD v4 COSMIC |
| 8 | g.96145272C>G | CA371752132 | GDF6 | c.659G>C (p.Gly220Ala) c.260G>C (p.Gly87Ala) | |
| 8 | g.96145272C>T | CA371752133 | GDF6 | c.659G>A (p.Gly220Asp) c.260G>A (p.Gly87Asp) | |
| 8 | g.96145273C>A | CA371752135 | GDF6 | c.658G>T (p.Gly220Cys) c.259G>T (p.Gly87Cys) | gnomAD v4 |
| 8 | g.96145273C>G | CA371752136 | GDF6 | c.658G>C (p.Gly220Arg) c.259G>C (p.Gly87Arg) | |
| 8 | g.96145273C>T | CA371752134 | GDF6 | c.658G>A (p.Gly220Ser) c.259G>A (p.Gly87Ser) | |
| 8 | g.96145274C>A | CA181485049 | GDF6 | c.657G>T (p.Gln219His) c.258G>T (p.Gln86His) | dbSNP |
| 8 | g.96145274C= | CA1804262448 | GDF6 | c.657G= (p.Gln219=) c.258G= (p.Gln86=) | |
| 8 | g.96145274C>G | CA371752137 | GDF6 | c.657G>C (p.Gln219His) c.258G>C (p.Gln86His) | |
| 8 | g.96145274C>T | CA181485050 | GDF6 | c.657G>A (p.Gln219=) c.258G>A (p.Gln86=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96145275T>A | CA371752138 | GDF6 | c.656A>T (p.Gln219Leu) c.257A>T (p.Gln86Leu) | gnomAD v4 |
| 8 | g.96145275T>C | CA371752139 | GDF6 | c.656A>G (p.Gln219Arg) c.257A>G (p.Gln86Arg) | gnomAD v4 |
| 8 | g.96145275T>G | CA371752140 | GDF6 | c.656A>C (p.Gln219Pro) c.257A>C (p.Gln86Pro) | |
| 8 | g.96145276G>A | CA371752141 | GDF6 | c.655C>T (p.Gln219Ter) c.256C>T (p.Gln86Ter) | gnomAD v4 |
| 8 | g.96145276G>C | CA371752142 | GDF6 | c.655C>G (p.Gln219Glu) c.256C>G (p.Gln86Glu) | |
| 8 | g.96145276G>T | CA371752143 | GDF6 | c.655C>A (p.Gln219Lys) c.256C>A (p.Gln86Lys) | |
| 8 | g.96145277C>A | CA371752144 | GDF6 | c.654G>T (p.Trp218Cys) c.255G>T (p.Trp85Cys) | gnomAD v4 |
| 8 | g.96145277C>G | CA371752145 | GDF6 | c.654G>C (p.Trp218Cys) c.255G>C (p.Trp85Cys) | |
| 8 | g.96145277C>T | CA371752146 | GDF6 | c.654G>A (p.Trp218Ter) c.255G>A (p.Trp85Ter) | gnomAD v4 |
| 8 | g.96145278C>A | CA371752149 | GDF6 | c.653G>T (p.Trp218Leu) c.254G>T (p.Trp85Leu) | gnomAD v4 |
| 8 | g.96145278C>G | CA371752147 | GDF6 | c.653G>C (p.Trp218Ser) c.254G>C (p.Trp85Ser) | |
| 8 | g.96145278C>T | CA371752148 | GDF6 | c.653G>A (p.Trp218Ter) c.254G>A (p.Trp85Ter) | gnomAD v4 |
| 8 | g.96145279A= | CA1804262454 | GDF6 | c.652T= (p.Trp218=) c.253T= (p.Trp85=) | |
| 8 | g.96145279A>C | CA371752150 | GDF6 | c.652T>G (p.Trp218Gly) c.253T>G (p.Trp85Gly) | dbSNP gnomAD v4 |
| 8 | g.96145279A>G | CA371752151 | GDF6 | c.652T>C (p.Trp218Arg) c.253T>C (p.Trp85Arg) | dbSNP gnomAD v4 |
| 8 | g.96145279A>T | CA371752152 | GDF6 | c.652T>A (p.Trp218Arg) c.253T>A (p.Trp85Arg) | gnomAD v4 |
| 8 | g.96145280C>A | CA462454953 | GDF6 | c.651G>T (p.Val217=) c.252G>T (p.Val84=) | gnomAD v4 |
| 8 | g.96145280C>G | CA462454955 | GDF6 | c.651G>C (p.Val217=) c.252G>C (p.Val84=) | |
| 8 | g.96145280C>T | CA462454958 | GDF6 | c.651G>A (p.Val217=) c.252G>A (p.Val84=) | gnomAD v4 |