UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52029825_52033601del | CA2580101945 | SGCB | c.75_284del c.61_367del c.42_361del c.34-3736_74del | ClinVar |
| 4 | g.52033431_52033640del | CA915940542 | SGCB | c.34_243del (p.Gln12_Ile81del) c.20_229del c.1_210del (p.Gln1_Ile70del) c.34-3777_34-3568del (n.34-3777_34-3568del) | |
| 4 | g.52033587_52033589del | CA2918506 | SGCB | c.87_89del (p.Arg30del) c.73_75del c.54_56del (p.Arg19del) c.34-3724_34-3722del (n.34-3724_34-3722del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52033587_52033592delinsTCTCTC | CA1457431780 | SGCB | c.82_87delinsGAGAGA (p.Glu28=) c.68_73delinsGAGAGA c.49_54delinsGAGAGA (p.Glu17=) c.34-3729_34-3724delinsGAGAGA (n.34-3729_34-3724delinsGAGAGA) | |
| 4 | g.52033588_52033592del | CA658657384 | SGCB | c.82_86del (p.Glu28LysfsTer5) c.68_72del c.49_53del (p.Glu17LysfsTer5) c.34-3729_34-3725del (n.34-3729_34-3725del) | ClinVar dbSNP |
| 4 | g.52033589T>A | CA2918507 | SGCB | c.85A>T (p.Arg29Ter) c.71A>T c.52A>T (p.Arg18Ter) c.34-3726A>T (n.34-3726A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52033589T>C | CA356878121 | SGCB | c.85A>G (p.Arg29Gly) c.71A>G c.52A>G (p.Arg18Gly) c.34-3726A>G (n.34-3726A>G) | |
| 4 | g.52033589T>G | CA439274819 | SGCB | c.85A>C (p.Arg29=) c.71A>C c.52A>C (p.Arg18=) c.34-3726A>C (n.34-3726A>C) | |
| 4 | g.52033589T= | CA1457431781 | SGCB | c.85A= (p.Arg29=) c.71A= c.52A= (p.Arg18=) c.34-3726A= (n.34-3726A=) | |
| 4 | g.52033589dup | CA2573137901 | SGCB | c.85dup (p.Arg29LysfsTer6) c.71dup c.52dup (p.Arg18LysfsTer6) c.34-3726dup (n.34-3726dup) | ClinVar dbSNP |
| 4 | g.52033590C>A | CA356878122 | SGCB | c.84G>T (p.Glu28Asp) c.70G>T c.51G>T (p.Glu17Asp) c.34-3727G>T (n.34-3727G>T) | |
| 4 | g.52033590C>G | CA356878123 | SGCB | c.84G>C (p.Glu28Asp) c.70G>C c.51G>C (p.Glu17Asp) c.34-3727G>C (n.34-3727G>C) | |
| 4 | g.52033590C>T | CA439274820 | SGCB | c.84G>A (p.Glu28=) c.70G>A c.51G>A (p.Glu17=) c.34-3727G>A (n.34-3727G>A) | |
| 4 | g.52033591T>A | CA356878125 | SGCB | c.83A>T (p.Glu28Val) c.69A>T c.50A>T (p.Glu17Val) c.34-3728A>T (n.34-3728A>T) | |
| 4 | g.52033591T>C | CA96786828 | SGCB | c.83A>G (p.Glu28Gly) c.69A>G c.50A>G (p.Glu17Gly) c.34-3728A>G (n.34-3728A>G) | dbSNP |
| 4 | g.52033591T>G | CA356878124 | SGCB | c.83A>C (p.Glu28Ala) c.69A>C c.50A>C (p.Glu17Ala) c.34-3728A>C (n.34-3728A>C) | |
| 4 | g.52033591T= | CA1457431782 | SGCB | c.83A= (p.Glu28=) c.69A= c.50A= (p.Glu17=) c.34-3728A= (n.34-3728A=) | |
| 4 | g.52033592C>A | CA2918508 | SGCB | c.82G>T (p.Glu28Ter) c.68G>T c.49G>T (p.Glu17Ter) c.34-3729G>T (n.34-3729G>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.52033592C= | CA1457431783 | SGCB | c.82G= (p.Glu28=) c.68G= c.49G= (p.Glu17=) c.34-3729G= (n.34-3729G=) | |
| 4 | g.52033592C>G | CA356878126 | SGCB | c.82G>C (p.Glu28Gln) c.68G>C c.49G>C (p.Glu17Gln) c.34-3729G>C (n.34-3729G>C) | |
| 4 | g.52033592C>T | CA356878127 | SGCB | c.82G>A (p.Glu28Lys) c.68G>A c.49G>A (p.Glu17Lys) c.34-3729G>A (n.34-3729G>A) | |
| 4 | g.52033593A= | CA1457431784 | SGCB | c.81T= (p.Val27=) c.67T= c.48T= (p.Val16=) c.34-3730T= (n.34-3730T=) | |
| 4 | g.52033593A>C | CA439274822 | SGCB | c.81T>G (p.Val27=) c.67T>G c.48T>G (p.Val16=) c.34-3730T>G (n.34-3730T>G) | |
| 4 | g.52033593A>G | CA439274821 | SGCB | c.81T>C (p.Val27=) c.67T>C c.48T>C (p.Val16=) c.34-3730T>C (n.34-3730T>C) | |
| 4 | g.52033593A>T | CA2918509 | SGCB | c.81T>A (p.Val27=) c.67T>A c.48T>A (p.Val16=) c.34-3730T>A (n.34-3730T>A) | dbSNP ExAC |
| 4 | g.52033594A>C | CA356878128 | SGCB | c.80T>G (p.Val27Gly) c.66T>G c.47T>G (p.Val16Gly) c.34-3731T>G (n.34-3731T>G) | |
| 4 | g.52033594A>G | CA356878129 | SGCB | c.80T>C (p.Val27Ala) c.66T>C c.47T>C (p.Val16Ala) c.34-3731T>C (n.34-3731T>C) | |
| 4 | g.52033594A>T | CA356878130 | SGCB | c.80T>A (p.Val27Asp) c.66T>A c.47T>A (p.Val16Asp) c.34-3731T>A (n.34-3731T>A) | |
| 4 | g.52033595C>A | CA356878131 | SGCB | c.79G>T (p.Val27Phe) c.65G>T c.46G>T (p.Val16Phe) c.34-3732G>T (n.34-3732G>T) | gnomAD v4 |
| 4 | g.52033595C>G | CA356878133 | SGCB | c.79G>C (p.Val27Leu) c.65G>C c.46G>C (p.Val16Leu) c.34-3732G>C (n.34-3732G>C) | |
| 4 | g.52033595C>T | CA356878132 | SGCB | c.79G>A (p.Val27Ile) c.65G>A c.46G>A (p.Val16Ile) c.34-3732G>A (n.34-3732G>A) | |
| 4 | g.52033596A= | CA1457431785 | SGCB | c.78T= (p.Ala26=) c.64T= c.45T= (p.Ala15=) c.34-3733T= (n.34-3733T=) | |
| 4 | g.52033596A>C | CA439274823 | SGCB | c.78T>G (p.Ala26=) c.64T>G c.45T>G (p.Ala15=) c.34-3733T>G (n.34-3733T>G) | |
| 4 | g.52033596A>G | CA439274825 | SGCB | c.78T>C (p.Ala26=) c.64T>C c.45T>C (p.Ala15=) c.34-3733T>C (n.34-3733T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.52033596A>T | CA439274824 | SGCB | c.78T>A (p.Ala26=) c.64T>A c.45T>A (p.Ala15=) c.34-3733T>A (n.34-3733T>A) | |
| 4 | g.52033596_52033597insT | CA2918510 | SGCB | c.77_78insA (p.Val27CysfsTer2) c.63_64insA c.44_45insA (p.Val16CysfsTer2) c.34-3734_34-3733insA (n.34-3734_34-3733insA) | dbSNP ExAC |
| 4 | g.52033597G>A | CA356878134 | SGCB | c.77C>T (p.Ala26Val) c.63C>T c.44C>T (p.Ala15Val) c.34-3734C>T (n.34-3734C>T) | |
| 4 | g.52033597G>C | CA356878135 | SGCB | c.77C>G (p.Ala26Gly) c.63C>G c.44C>G (p.Ala15Gly) c.34-3734C>G (n.34-3734C>G) | |
| 4 | g.52033597G>T | CA356878136 | SGCB | c.77C>A (p.Ala26Asp) c.63C>A c.44C>A (p.Ala15Asp) c.34-3734C>A (n.34-3734C>A) | |
| 4 | g.52033598C>A | CA356878138 | SGCB | c.76G>T (p.Ala26Ser) c.62G>T c.43G>T (p.Ala15Ser) c.34-3735G>T (n.34-3735G>T) | |
| 4 | g.52033598C= | CA1457431786 | SGCB | c.76G= (p.Ala26=) c.62G= c.43G= (p.Ala15=) c.34-3735G= (n.34-3735G=) | |
| 4 | g.52033598C>G | CA356878137 | SGCB | c.76G>C (p.Ala26Pro) c.62G>C c.43G>C (p.Ala15Pro) c.34-3735G>C (n.34-3735G>C) | gnomAD v4 |
| 4 | g.52033598C>T | CA2918511 | SGCB | c.76G>A (p.Ala26Thr) c.62G>A c.43G>A (p.Ala15Thr) c.34-3735G>A (n.34-3735G>A) | dbSNP ExAC |
| 4 | g.52033598_52033599insACGA | CA2580071060 | SGCB | c.75_76insTCGT (p.Ala26SerfsTer4) c.61_62insTCGT c.42_43insTCGT (p.Ala15SerfsTer4) c.34-3736_34-3735insTCGT (n.34-3736_34-3735insTCGT) | ClinVar |
| 4 | g.52033599C>A | CA356878139 | SGCB | c.75G>T (p.Lys25Asn) c.61G>T c.42G>T (p.Lys14Asn) c.34-3736G>T (n.34-3736G>T) | |
| 4 | g.52033599C>G | CA356878140 | SGCB | c.75G>C (p.Lys25Asn) c.61G>C c.42G>C (p.Lys14Asn) c.34-3736G>C (n.34-3736G>C) | |
| 4 | g.52033599C>T | CA439274826 | SGCB | c.75G>A (p.Lys25=) c.61G>A c.42G>A (p.Lys14=) c.34-3736G>A (n.34-3736G>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.52033600T>A | CA356878141 | SGCB | c.74A>T (p.Lys25Met) c.60A>T c.41A>T (p.Lys14Met) c.34-3737A>T (n.34-3737A>T) | |
| 4 | g.52033600T>C | CA356878142 | SGCB | c.74A>G (p.Lys25Arg) c.60A>G c.41A>G (p.Lys14Arg) c.34-3737A>G (n.34-3737A>G) | |
| 4 | g.52033600T>G | CA356878143 | SGCB | c.74A>C (p.Lys25Thr) c.60A>C c.41A>C (p.Lys14Thr) c.34-3737A>C (n.34-3737A>C) |