Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.96145173T>A | CA119559 | GDF6 | c.758A>T (p.Gln253Leu) c.707-11A>T (n.707-11A>T) c.359A>T (p.Gln120Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145173T>C | CA371751927 | GDF6 | c.758A>G (p.Gln253Arg) c.707-11A>G (n.707-11A>G) c.359A>G (p.Gln120Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145173T>G | CA371751928 | GDF6 | c.758A>C (p.Gln253Pro) c.707-11A>C (n.707-11A>C) c.359A>C (p.Gln120Pro) | gnomAD v4 |
8 | g.96145173T= | CA1804262041 | GDF6 | c.758A= (p.Gln253=) c.707-11A= (n.707-11A=) c.359A= (p.Gln120=) | |
8 | g.96145174G>A | CA371751931 | GDF6 | c.757C>T (p.Gln253Ter) c.707-12C>T (n.707-12C>T) c.358C>T (p.Gln120Ter) | gnomAD v4 |
8 | g.96145174G>C | CA371751930 | GDF6 | c.757C>G (p.Gln253Glu) c.707-12C>G (n.707-12C>G) c.358C>G (p.Gln120Glu) | |
8 | g.96145174G>T | CA371751929 | GDF6 | c.757C>A (p.Gln253Lys) c.707-12C>A (n.707-12C>A) c.358C>A (p.Gln120Lys) | gnomAD v4 |
8 | g.96145177del | CA2687993836 | GDF6 | c.757del (p.Gln253SerfsTer?) c.707-12del (n.707-12del) c.358del (p.Gln120SerfsTer?) | gnomAD v4 |
8 | g.96145175G>A | CA4815413 | GDF6 | c.756C>T (p.Pro252=) c.707-13C>T (n.707-13C>T) c.357C>T (p.Pro119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.96145175G>C | CA462454582 | GDF6 | c.756C>G (p.Pro252=) c.707-13C>G (n.707-13C>G) c.357C>G (p.Pro119=) | |
8 | g.96145175G= | CA1804262052 | GDF6 | c.756C= (p.Pro252=) c.707-13C= (n.707-13C=) c.357C= (p.Pro119=) | |
8 | g.96145175G>T | CA462454583 | GDF6 | c.756C>A (p.Pro252=) c.707-13C>A (n.707-13C>A) c.357C>A (p.Pro119=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145176G>A | CA371751933 | GDF6 | c.755C>T (p.Pro252Leu) c.707-14C>T (n.707-14C>T) c.356C>T (p.Pro119Leu) | gnomAD v4 |
8 | g.96145176G>C | CA371751932 | GDF6 | c.755C>G (p.Pro252Arg) c.707-14C>G (n.707-14C>G) c.356C>G (p.Pro119Arg) | ClinVar |
8 | g.96145176G>T | CA371751934 | GDF6 | c.755C>A (p.Pro252His) c.707-14C>A (n.707-14C>A) c.356C>A (p.Pro119His) | gnomAD v4 |
8 | g.96145177G>A | CA371751935 | GDF6 | c.754C>T (p.Pro252Ser) c.707-15C>T (n.707-15C>T) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.96145177G>C | CA371751936 | GDF6 | c.754C>G (p.Pro252Ala) c.707-15C>G (n.707-15C>G) c.355C>G (p.Pro119Ala) | |
8 | g.96145177G= | CA1804262061 | GDF6 | c.754C= (p.Pro252=) c.707-15C= (n.707-15C=) c.355C= (p.Pro119=) | |
8 | g.96145177G>T | CA371751937 | GDF6 | c.754C>A (p.Pro252Thr) c.707-15C>A (n.707-15C>A) c.355C>A (p.Pro119Thr) | gnomAD v4 |
8 | g.96145178T>A | CA462454584 | GDF6 | c.753A>T (p.Gly251=) c.707-16A>T (n.707-16A>T) c.354A>T (p.Gly118=) | gnomAD v4 |
8 | g.96145178T>C | CA462454585 | GDF6 | c.753A>G (p.Gly251=) c.707-16A>G (n.707-16A>G) c.354A>G (p.Gly118=) | |
8 | g.96145178T>G | CA462454586 | GDF6 | c.753A>C (p.Gly251=) c.707-16A>C (n.707-16A>C) c.354A>C (p.Gly118=) | gnomAD v4 |
8 | g.96145179C>A | CA371751938 | GDF6 | c.752G>T (p.Gly251Val) c.707-17G>T (n.707-17G>T) c.353G>T (p.Gly118Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.96145179C= | CA1804262068 | GDF6 | c.752G= (p.Gly251=) c.707-17G= (n.707-17G=) c.353G= (p.Gly118=) | |
8 | g.96145179C>G | CA371751939 | GDF6 | c.752G>C (p.Gly251Ala) c.707-17G>C (n.707-17G>C) c.353G>C (p.Gly118Ala) | |
8 | g.96145179C>T | CA371751940 | GDF6 | c.752G>A (p.Gly251Glu) c.707-17G>A (n.707-17G>A) c.353G>A (p.Gly118Glu) | |
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.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) |