Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.47325217C>A | CA376655927 | GDF2 | c.723C>A (p.Asp241Glu) | |
10 | g.47325217C>G | CA376655928 | GDF2 | c.723C>G (p.Asp241Glu) | |
10 | g.47325217C>T | CA469780880 | GDF2 | c.723C>T (p.Asp241=) | gnomAD v4 |
10 | g.47325218A= | CA1907806071 | GDF2 | c.724A= (p.Ile242=) | |
10 | g.47325218A>C | CA376655931 | GDF2 | c.724A>C (p.Ile242Leu) | |
10 | g.47325218A>G | CA376655933 | GDF2 | c.724A>G (p.Ile242Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47325218A>T | CA376655932 | GDF2 | c.724A>T (p.Ile242Phe) | |
10 | g.47325219T>A | CA376655934 | GDF2 | c.725T>A (p.Ile242Asn) | |
10 | g.47325219T>C | CA376655935 | GDF2 | c.725T>C (p.Ile242Thr) | |
10 | g.47325219T>G | CA376655936 | GDF2 | c.725T>G (p.Ile242Ser) | |
10 | g.47325220C>A | CA469780882 | GDF2 | c.726C>A (p.Ile242=) | |
10 | g.47325220C>G | CA376655937 | GDF2 | c.726C>G (p.Ile242Met) | |
10 | g.47325220C>T | CA469780883 | GDF2 | c.726C>T (p.Ile242=) | gnomAD v4 |
10 | g.47325220_47325221del | CA2695212008 | GDF2 | c.726_727del (p.Ile242MetfsTer18) | |
10 | g.47325221A= | CA1907806073 | GDF2 | c.727A= (p.Ser243=) | |
10 | g.47325221A>C | CA376655938 | GDF2 | c.727A>C (p.Ser243Arg) | gnomAD v4 |
10 | g.47325221A>G | CA376655939 | GDF2 | c.727A>G (p.Ser243Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47325221A>T | CA376655940 | GDF2 | c.727A>T (p.Ser243Cys) | |
10 | g.47325222G>A | CA5488038 | GDF2 | c.728G>A (p.Ser243Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47325222G>C | CA5488039 | GDF2 | c.728G>C (p.Ser243Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47325222G= | CA1907806075 | GDF2 | c.728G= (p.Ser243=) | |
10 | g.47325222G>T | CA206440665 | GDF2 | c.728G>T (p.Ser243Ile) | |
10 | g.47325223T>A | CA376655942 | GDF2 | c.729T>A (p.Ser243Arg) | |
10 | g.47325223T>C | CA469780887 | GDF2 | c.729T>C (p.Ser243=) | ClinVar |
10 | g.47325223T>G | CA376655941 | GDF2 | c.729T>G (p.Ser243Arg) | |
10 | g.47325224G>A | CA376655943 | GDF2 | c.730G>A (p.Val244Ile) | dbSNP |
10 | g.47325224G>C | CA376655944 | GDF2 | c.730G>C (p.Val244Leu) | |
10 | g.47325224G= | CA1907806077 | GDF2 | c.730G= (p.Val244=) | |
10 | g.47325224G>T | CA376655945 | GDF2 | c.730G>T (p.Val244Phe) | |
10 | g.47325225T>A | CA376655946 | GDF2 | c.731T>A (p.Val244Asp) | |
10 | g.47325225T>C | CA376655947 | GDF2 | c.731T>C (p.Val244Ala) | |
10 | g.47325225T>G | CA376655948 | GDF2 | c.731T>G (p.Val244Gly) | |
10 | g.47325226C>A | CA206440668 | GDF2 | c.732C>A (p.Val244=) | |
10 | g.47325226C= | CA1907806079 | GDF2 | c.732C= (p.Val244=) | |
10 | g.47325226C>G | CA206440672 | GDF2 | c.732C>G (p.Val244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47325226C>T | CA5488037 | GDF2 | c.732C>T (p.Val244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47325231del | CA2609045803 | GDF2 | c.737del (p.Pro246GlnfsTer27) | gnomAD v4 |
10 | g.47325230_47325231del | CA2609045804 | GDF2 | c.736_737del (p.Pro246ArgfsTer14) | gnomAD v4 |
10 | g.47325227C>A | CA376655949 | GDF2 | c.733C>A (p.Pro245Thr) | |
10 | g.47325227C>G | CA376655950 | GDF2 | c.733C>G (p.Pro245Ala) | |
10 | g.47325227C>T | CA376655951 | GDF2 | c.733C>T (p.Pro245Ser) | |
10 | g.47325228C>A | CA376655952 | GDF2 | c.734C>A (p.Pro245His) | |
10 | g.47325228C= | CA1907806081 | GDF2 | c.734C= (p.Pro245=) | |
10 | g.47325228C>G | CA376655953 | GDF2 | c.734C>G (p.Pro245Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.47325228C>T | CA376655954 | GDF2 | c.734C>T (p.Pro245Leu) | dbSNP |
10 | g.47325229C>A | CA469780897 | GDF2 | c.735C>A (p.Pro245=) | |
10 | g.47325229C>G | CA469780895 | GDF2 | c.735C>G (p.Pro245=) | |
10 | g.47325229C>T | CA469780894 | GDF2 | c.735C>T (p.Pro245=) | ClinVar gnomAD v4 |
10 | g.47325230C>A | CA376655955 | GDF2 | c.736C>A (p.Pro246Thr) | |
10 | g.47325230C>G | CA376655957 | GDF2 | c.736C>G (p.Pro246Ala) |