Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52038205_52038273del | CA2670614559 | SGCB | c.-8_33+28del | gnomAD v4 |
4 | g.52038206_52038268del | CA2670614562 | SGCB | c.-3_33+27del | gnomAD v4 |
4 | g.52038205_52038250del | CA2670614565 | SGCB | c.14_33+26del | gnomAD v4 |
4 | g.52038211_52038279del | CA2670614576 | SGCB | c.-15_33+21del | gnomAD v4 |
4 | g.52038211_52038273del | CA2670614579 | SGCB | c.-10_33+20del | gnomAD v4 |
4 | g.52038226_52038231delinsCCTGTT | CA1457434171 | SGCB | c.29_33+1delinsAACAGG c.15_19+1delinsAACAGG | |
4 | g.52038230_52038234del | CA16040956 | SGCB | c.29_33del (p.Glu10AlafsTer13) c.15_19del c.29_33del (p.Glu10AspfsTer17) | ClinVar dbSNP |
4 | g.52038229G>A | CA10604818 | SGCB | c.31C>T (p.Gln11Ter) c.17C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038229G>C | CA2918525 | SGCB | c.31C>G (p.Gln11Glu) c.17C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038229G= | CA1457434174 | SGCB | c.31C= (p.Gln11=) c.17C= | |
4 | g.52038229G>T | CA356878672 | SGCB | c.31C>A (p.Gln11Lys) c.17C>A | gnomAD v4 |
4 | g.52038230T>A | CA356878673 | SGCB | c.30A>T (p.Glu10Asp) c.16A>T | gnomAD v4 |
4 | g.52038230T>C | CA439274983 | SGCB | c.30A>G (p.Glu10=) c.16A>G | gnomAD v4 |
4 | g.52038230T>G | CA356878674 | SGCB | c.30A>C (p.Glu10Asp) c.16A>C | gnomAD v4 |
4 | g.52038231del | CA2524524599 | SGCB | c.30del (p.Glu10AspfsTer9) c.16del c.30del (p.Glu10AspfsTer3) | ClinVar dbSNP gnomAD v4 |
4 | g.52038231T>A | CA356878677 | SGCB | c.29A>T (p.Glu10Val) c.15A>T | gnomAD v4 |
4 | g.52038231T>C | CA356878675 | SGCB | c.29A>G (p.Glu10Gly) c.15A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038231T>G | CA356878676 | SGCB | c.29A>C (p.Glu10Ala) c.15A>C | dbSNP |
4 | g.52038231T= | CA1457434175 | SGCB | c.29A= (p.Glu10=) c.15A= | |
4 | g.52038232C>A | CA356878678 | SGCB | c.28G>T (p.Glu10Ter) c.14G>T | ClinVar dbSNP gnomAD v4 |
4 | g.52038232C= | CA1457434176 | SGCB | c.28G= (p.Glu10=) c.14G= | |
4 | g.52038232C>G | CA356878679 | SGCB | c.28G>C (p.Glu10Gln) c.14G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038232C>T | CA356878680 | SGCB | c.28G>A (p.Glu10Lys) c.14G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038233T>A | CA439274984 | SGCB | c.27A>T (p.Ala9=) c.13A>T | gnomAD v4 |
4 | g.52038233T>C | CA439274985 | SGCB | c.27A>G (p.Ala9=) c.13A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038233T>G | CA439274986 | SGCB | c.27A>C (p.Ala9=) c.13A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038233T= | CA1457434177 | SGCB | c.27A= (p.Ala9=) c.13A= | |
4 | g.52038234G>A | CA356878681 | SGCB | c.26C>T (p.Ala9Val) c.12C>T | ClinVar gnomAD v4 |
4 | g.52038234G>C | CA356878682 | SGCB | c.26C>G (p.Ala9Gly) c.12C>G | gnomAD v4 |
4 | g.52038234G>T | CA356878683 | SGCB | c.26C>A (p.Ala9Glu) c.12C>A | gnomAD v4 |
4 | g.52038236_52038238dup | CA2670614611 | SGCB | c.24_26dup (p.Ala9_Glu10insAla) c.10_12dup | gnomAD v4 |
4 | g.52038236_52038238del | CA2670614613 | SGCB | c.24_26del (p.Ala9del) c.10_12del | gnomAD v4 |
4 | g.52038236_52038250del | CA2670614612 | SGCB | c.12_26del (p.Ala5_Ala9del) | gnomAD v4 |
4 | g.52038235C>A | CA356878684 | SGCB | c.25G>T (p.Ala9Ser) c.11G>T | gnomAD v4 |
4 | g.52038235C>G | CA356878685 | SGCB | c.25G>C (p.Ala9Pro) c.11G>C | |
4 | g.52038235C>T | CA356878686 | SGCB | c.25G>A (p.Ala9Thr) c.11G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038236A= | CA1457434178 | SGCB | c.24T= (p.Ala8=) c.10T= | |
4 | g.52038236A>C | CA439274987 | SGCB | c.24T>G (p.Ala8=) c.10T>G | gnomAD v4 |
4 | g.52038236A>G | CA439274988 | SGCB | c.24T>C (p.Ala8=) c.10T>C | ClinVar dbSNP gnomAD v4 |
4 | g.52038236A>T | CA439274989 | SGCB | c.24T>A (p.Ala8=) c.10T>A | gnomAD v4 |
4 | g.52038236dup | CA913106909 | SGCB | c.24dup (p.Ala9CysfsTer16) c.10dup c.24dup (p.Ala9CysfsTer20) | |
4 | g.52038236_52038245delinsAGCCGCCGCC | CA1457434179 | SGCB | c.15_24delinsGGCGGCGGCT (p.Ala5=) c.1_10delinsGGCGGCGGCT | |
4 | g.52038237G>A | CA356878688 | SGCB | c.23C>T (p.Ala8Val) c.9C>T | dbSNP gnomAD v4 |
4 | g.52038237G>C | CA356878689 | SGCB | c.23C>G (p.Ala8Gly) c.9C>G | dbSNP gnomAD v4 |
4 | g.52038237G= | CA1457434181 | SGCB | c.23C= (p.Ala8=) c.9C= | |
4 | g.52038237G>T | CA356878687 | SGCB | c.23C>A (p.Ala8Asp) c.9C>A | gnomAD v4 |
4 | g.52038248_52038250dup | CA238567 | SGCB | c.21_23dup (p.Ala8_Ala9insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038245_52038250dup | CA10604499 | SGCB | c.18_23dup (p.Ala8_Ala9insAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038248_52038250del | CA2918526 | SGCB | c.21_23del (p.Ala8del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038245_52038250del | CA2670614615 | SGCB | c.18_23del (p.Ala7_Ala8del) | gnomAD v4 |