Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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) |