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 |
|---|---|---|---|---|---|
| 16 | g.30986515G>A | CA8017984 | HSD3B7 | c.415G>A (p.Gly139Ser) c.538G>A (p.Gly180Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986515G>C | CA395640330 | HSD3B7 | c.415G>C (p.Gly139Arg) c.538G>C (p.Gly180Arg) | |
| 16 | g.30986515G= | CA2216821985 | HSD3B7 | c.415G= (p.Gly139=) c.538G= (p.Gly180=) | |
| 16 | g.30986515G>T | CA395640332 | HSD3B7 | c.415G>T (p.Gly139Cys) c.538G>T (p.Gly180Cys) | |
| 16 | g.30986516G>A | CA395640334 | HSD3B7 | c.416G>A (p.Gly139Asp) c.539G>A (p.Gly180Asp) | |
| 16 | g.30986516G>C | CA395640335 | HSD3B7 | c.416G>C (p.Gly139Ala) c.539G>C (p.Gly180Ala) | |
| 16 | g.30986516G>T | CA395640336 | HSD3B7 | c.416G>T (p.Gly139Val) c.539G>T (p.Gly180Val) | |
| 16 | g.30986517T>A | CA494920637 | HSD3B7 | c.417T>A (p.Gly139=) c.540T>A (p.Gly180=) | |
| 16 | g.30986517T>C | CA494920638 | HSD3B7 | c.417T>C (p.Gly139=) c.540T>C (p.Gly180=) | gnomAD v4 |
| 16 | g.30986517T>G | CA8017985 | HSD3B7 | c.417T>G (p.Gly139=) c.540T>G (p.Gly180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986517T= | CA2216821995 | HSD3B7 | c.417T= (p.Gly139=) c.540T= (p.Gly180=) | |
| 16 | g.30986518C>A | CA395640342 | HSD3B7 | c.418C>A (p.His140Asn) c.541C>A (p.His181Asn) | |
| 16 | g.30986518C>G | CA395640340 | HSD3B7 | c.418C>G (p.His140Asp) c.541C>G (p.His181Asp) | |
| 16 | g.30986518C>T | CA395640338 | HSD3B7 | c.418C>T (p.His140Tyr) c.541C>T (p.His181Tyr) | |
| 16 | g.30986519A= | CA2216821999 | HSD3B7 | c.419A= (p.His140=) c.542A= (p.His181=) | |
| 16 | g.30986519A>C | CA395640343 | HSD3B7 | c.419A>C (p.His140Pro) c.542A>C (p.His181Pro) | |
| 16 | g.30986519A>G | CA395640345 | HSD3B7 | c.419A>G (p.His140Arg) c.542A>G (p.His181Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986519A>T | CA395640347 | HSD3B7 | c.419A>T (p.His140Leu) c.542A>T (p.His181Leu) | |
| 16 | g.30986520C>A | CA395640349 | HSD3B7 | c.420C>A (p.His140Gln) c.543C>A (p.His181Gln) | |
| 16 | g.30986520C= | CA2216822003 | HSD3B7 | c.420C= (p.His140=) c.543C= (p.His181=) | |
| 16 | g.30986520C>G | CA395640350 | HSD3B7 | c.420C>G (p.His140Gln) c.543C>G (p.His181Gln) | |
| 16 | g.30986520C>T | CA494920641 | HSD3B7 | c.420C>T (p.His140=) c.543C>T (p.His181=) | dbSNP gnomAD v4 |
| 16 | g.30986521C>A | CA395640351 | HSD3B7 | c.421C>A (p.Pro141Thr) c.544C>A (p.Pro182Thr) | |
| 16 | g.30986521C>G | CA395640352 | HSD3B7 | c.421C>G (p.Pro141Ala) c.544C>G (p.Pro182Ala) | |
| 16 | g.30986521C>T | CA395640354 | HSD3B7 | c.421C>T (p.Pro141Ser) c.544C>T (p.Pro182Ser) | gnomAD v4 COSMIC |
| 16 | g.30986522C>A | CA395640356 | HSD3B7 | c.422C>A (p.Pro141His) c.545C>A (p.Pro182His) | |
| 16 | g.30986522C>G | CA395640358 | HSD3B7 | c.422C>G (p.Pro141Arg) c.545C>G (p.Pro182Arg) | |
| 16 | g.30986522C>T | CA395640359 | HSD3B7 | c.422C>T (p.Pro141Leu) c.545C>T (p.Pro182Leu) | |
| 16 | g.30986523C>A | CA8017986 | HSD3B7 | c.423C>A (p.Pro141=) c.546C>A (p.Pro182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986523C= | CA2216822009 | HSD3B7 | c.423C= (p.Pro141=) c.546C= (p.Pro182=) | |
| 16 | g.30986523C>G | CA494920643 | HSD3B7 | c.423C>G (p.Pro141=) c.546C>G (p.Pro182=) | |
| 16 | g.30986523C>T | CA494920645 | HSD3B7 | c.423C>T (p.Pro141=) c.546C>T (p.Pro182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986524T>A | CA395640362 | HSD3B7 | c.424T>A (p.Phe142Ile) c.547T>A (p.Phe183Ile) | |
| 16 | g.30986524T>C | CA395640364 | HSD3B7 | c.424T>C (p.Phe142Leu) c.547T>C (p.Phe183Leu) | |
| 16 | g.30986524T>G | CA395640363 | HSD3B7 | c.424T>G (p.Phe142Val) c.547T>G (p.Phe183Val) | |
| 16 | g.30986525T>A | CA395640366 | HSD3B7 | c.425T>A (p.Phe142Tyr) c.548T>A (p.Phe183Tyr) | |
| 16 | g.30986525T>C | CA395640369 | HSD3B7 | c.425T>C (p.Phe142Ser) c.548T>C (p.Phe183Ser) | |
| 16 | g.30986525T>G | CA395640368 | HSD3B7 | c.425T>G (p.Phe142Cys) c.548T>G (p.Phe183Cys) | |
| 16 | g.30986526C>A | CA395640371 | HSD3B7 | c.426C>A (p.Phe142Leu) c.549C>A (p.Phe183Leu) | |
| 16 | g.30986526C= | CA2216822018 | HSD3B7 | c.426C= (p.Phe142=) c.549C= (p.Phe183=) | |
| 16 | g.30986526C>G | CA395640374 | HSD3B7 | c.426C>G (p.Phe142Leu) c.549C>G (p.Phe183Leu) | |
| 16 | g.30986526C>T | CA280561940 | HSD3B7 | c.426C>T (p.Phe142=) c.549C>T (p.Phe183=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986527T>A | CA395640376 | HSD3B7 | c.427T>A (p.Tyr143Asn) c.550T>A (p.Tyr184Asn) | |
| 16 | g.30986527T>C | CA395640379 | HSD3B7 | c.427T>C (p.Tyr143His) c.550T>C (p.Tyr184His) | |
| 16 | g.30986527T>G | CA395640378 | HSD3B7 | c.427T>G (p.Tyr143Asp) c.550T>G (p.Tyr184Asp) | |
| 16 | g.30986528A>C | CA395640381 | HSD3B7 | c.428A>C (p.Tyr143Ser) c.551A>C (p.Tyr184Ser) | |
| 16 | g.30986528A>G | CA395640383 | HSD3B7 | c.428A>G (p.Tyr143Cys) c.551A>G (p.Tyr184Cys) | gnomAD v4 |
| 16 | g.30986528A>T | CA395640385 | HSD3B7 | c.428A>T (p.Tyr143Phe) c.551A>T (p.Tyr184Phe) | |
| 16 | g.30986529C>A | CA395640386 | HSD3B7 | c.429C>A (p.Tyr143Ter) c.552C>A (p.Tyr184Ter) | |
| 16 | g.30986529C= | CA2216822024 | HSD3B7 | c.429C= (p.Tyr143=) c.552C= (p.Tyr184=) | |
| 16 | g.30986529C>G | CA395640388 | HSD3B7 | c.429C>G (p.Tyr143Ter) c.552C>G (p.Tyr184Ter) | |
| 16 | g.30986529C>T | CA494920649 | HSD3B7 | c.429C>T (p.Tyr143=) c.552C>T (p.Tyr184=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986530A>C | CA494920651 | HSD3B7 | c.430A>C (p.Arg144=) c.553A>C (p.Arg185=) | |
| 16 | g.30986530A>G | CA395640390 | HSD3B7 | c.430A>G (p.Arg144Gly) c.553A>G (p.Arg185Gly) | gnomAD v4 |
| 16 | g.30986530A>T | CA395640392 | HSD3B7 | c.430A>T (p.Arg144Trp) c.553A>T (p.Arg185Trp) | |
| 16 | g.30986531G>A | CA395640394 | HSD3B7 | c.431G>A (p.Arg144Lys) c.554G>A (p.Arg185Lys) | |
| 16 | g.30986531G>C | CA395640396 | HSD3B7 | c.431G>C (p.Arg144Thr) c.554G>C (p.Arg185Thr) | gnomAD v4 |
| 16 | g.30986531G>T | CA395640397 | HSD3B7 | c.431G>T (p.Arg144Met) c.554G>T (p.Arg185Met) | |
| 16 | g.30986532G>A | CA395640403 | HSD3B7 | c.431+1G>A (n.431+1G>A) c.554+1G>A (n.554+1G>A) | gnomAD v4 |
| 16 | g.30986532G>C | CA395640401 | HSD3B7 | c.431+1G>C (n.431+1G>C) c.554+1G>C (n.554+1G>C) | |
| 16 | g.30986532G>T | CA395640399 | HSD3B7 | c.431+1G>T (n.431+1G>T) c.554+1G>T (n.554+1G>T) | |
| 16 | g.30986533T>A | CA395640404 | HSD3B7 | c.431+2T>A (n.431+2T>A) c.554+2T>A (n.554+2T>A) | |
| 16 | g.30986533T>C | CA395640406 | HSD3B7 | c.431+2T>C (n.431+2T>C) c.554+2T>C (n.554+2T>C) | ClinVar |
| 16 | g.30986533T>G | CA395640408 | HSD3B7 | c.431+2T>G (n.431+2T>G) c.554+2T>G (n.554+2T>G) | |
| 16 | g.30986533dup | CA2695223278 | HSD3B7 | c.431+2dup (n.431+2dup) c.554+2dup (n.554+2dup) | |
| 16 | g.30986534G>A | CA280561943 | HSD3B7 | c.431+3G>A (n.431+3G>A) c.554+3G>A (n.554+3G>A) | dbSNP |
| 16 | g.30986534G= | CA2216822029 | HSD3B7 | c.431+3G= (n.431+3G=) c.554+3G= (n.554+3G=) | |
| 16 | g.30986535_30986536del | CA2575973591 | HSD3B7 | c.431+4_431+5del (n.431+4_431+5del) c.554+4_554+5del (n.554+4_554+5del) | |
| 16 | g.30986535A= | CA2216822036 | HSD3B7 | c.431+4A= (n.431+4A=) c.554+4A= (n.554+4A=) | |
| 16 | g.30986535A>G | CA622171154 | HSD3B7 | c.431+4A>G (n.431+4A>G) c.554+4A>G (n.554+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986535A>T | CA2632803631 | HSD3B7 | c.431+4A>T (n.431+4A>T) c.554+4A>T (n.554+4A>T) | gnomAD v4 |
| 16 | g.30986536G>A | CA622171155 | HSD3B7 | c.431+5G>A (n.431+5G>A) c.554+5G>A (n.554+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986536G= | CA2216822039 | HSD3B7 | c.431+5G= (n.431+5G=) c.554+5G= (n.554+5G=) | |
| 16 | g.30986537T>C | CA2216822042 | HSD3B7 | c.431+6T>C (n.431+6T>C) c.554+6T>C (n.554+6T>C) | dbSNP |
| 16 | g.30986537T= | CA2216822041 | HSD3B7 | c.431+6T= (n.431+6T=) c.554+6T= (n.554+6T=) | |
| 16 | g.30986538G>A | CA2632803634 | HSD3B7 | c.431+7G>A (n.431+7G>A) c.554+7G>A (n.554+7G>A) | gnomAD v4 |
| 16 | g.30986538G= | CA2216822044 | HSD3B7 | c.431+7G= (n.431+7G=) c.554+7G= (n.554+7G=) | |
| 16 | g.30986538_30986539insA | CA622171156 | HSD3B7 | c.431+7_431+8insA (n.431+7_431+8insA) c.554+7_554+8insA (n.554+7_554+8insA) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986543G>A | CA622171157 | HSD3B7 | c.431+12G>A (n.431+12G>A) c.554+12G>A (n.554+12G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986543G= | CA2216822056 | HSD3B7 | c.431+12G= (n.431+12G=) c.554+12G= (n.554+12G=) | |
| 16 | g.30986543G>T | CA2632803640 | HSD3B7 | c.431+12G>T (n.431+12G>T) c.554+12G>T (n.554+12G>T) | gnomAD v4 |
| 16 | g.30986544C= | CA2216822062 | HSD3B7 | c.431+13C= (n.431+13C=) c.554+13C= (n.554+13C=) | |
| 16 | g.30986544C>G | CA622171158 | HSD3B7 | c.431+13C>G (n.431+13C>G) c.554+13C>G (n.554+13C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986544C>T | CA622171159 | HSD3B7 | c.431+13C>T (n.431+13C>T) c.554+13C>T (n.554+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986545C>A | CA8017987 | HSD3B7 | c.431+14C>A (n.431+14C>A) c.554+14C>A (n.554+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986545C= | CA2216822064 | HSD3B7 | c.431+14C= (n.431+14C=) c.554+14C= (n.554+14C=) | |
| 16 | g.30986545C>T | CA2216822067 | HSD3B7 | c.431+14C>T (n.431+14C>T) c.554+14C>T (n.554+14C>T) | dbSNP gnomAD v4 |
| 16 | g.30986546C>T | CA2632803650 | HSD3B7 | c.431+15C>T (n.431+15C>T) c.554+15C>T (n.554+15C>T) | gnomAD v4 |
| 16 | g.30986547T>G | CA622171160 | HSD3B7 | c.431+16T>G (n.431+16T>G) c.554+16T>G (n.554+16T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986547T= | CA2216822068 | HSD3B7 | c.431+16T= (n.431+16T=) c.554+16T= (n.554+16T=) | |
| 16 | g.30986548C= | CA2216822074 | HSD3B7 | c.431+17C= (n.431+17C=) c.554+17C= (n.554+17C=) | |
| 16 | g.30986548C>T | CA8017988 | HSD3B7 | c.431+17C>T (n.431+17C>T) c.554+17C>T (n.554+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986549T>C | CA622171161 | HSD3B7 | c.431+18T>C (n.431+18T>C) c.554+18T>C (n.554+18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986549T= | CA2216822080 | HSD3B7 | c.431+18T= (n.431+18T=) c.554+18T= (n.554+18T=) | |
| 16 | g.30986554C= | CA2216822085 | HSD3B7 | c.431+23C= (n.431+23C=) c.554+23C= (n.554+23C=) | |
| 16 | g.30986554C>T | CA719897775 | HSD3B7 | c.431+23C>T (n.431+23C>T) c.554+23C>T (n.554+23C>T) | dbSNP |
| 16 | g.30986556C= | CA2216822090 | HSD3B7 | c.431+25C= (n.431+25C=) c.554+25C= (n.554+25C=) | |
| 16 | g.30986556C>G | CA2632803656 | HSD3B7 | c.431+25C>G (n.431+25C>G) c.554+25C>G (n.554+25C>G) | gnomAD v4 |
| 16 | g.30986556C>T | CA8017990 | HSD3B7 | c.431+25C>T (n.431+25C>T) c.554+25C>T (n.554+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986556_30986560delinsCTAAG | CA2216822088 | HSD3B7 | c.431+25_431+29delinsCTAAG (n.431+25_431+29delinsCTAAG) c.554+25_554+29delinsCTAAG (n.554+25_554+29delinsCTAAG) | |
| 16 | g.30986557T>C | CA719897777 | HSD3B7 | c.431+26T>C (n.431+26T>C) c.554+26T>C (n.554+26T>C) | dbSNP |
| 16 | g.30986557T= | CA2216822100 | HSD3B7 | c.431+26T= (n.431+26T=) c.554+26T= (n.554+26T=) | |
| 16 | g.30986557dup | CA8017989 | HSD3B7 | c.431+26dup (n.431+26dup) c.554+26dup (n.554+26dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986557_30986560del | CA622171162 | HSD3B7 | c.431+26_431+29del (n.431+26_431+29del) c.554+26_554+29del (n.554+26_554+29del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986558A>G | CA2575973592 | HSD3B7 | c.431+27A>G (n.431+27A>G) c.554+27A>G (n.554+27A>G) | |
| 16 | g.30986562G>A | CA2575973593 | HSD3B7 | c.431+31G>A (n.431+31G>A) c.554+31G>A (n.554+31G>A) | |
| 16 | g.30986563C= | CA2216822103 | HSD3B7 | c.431+32C= (n.431+32C=) c.554+32C= (n.554+32C=) | |
| 16 | g.30986563C>G | CA622171163 | HSD3B7 | c.431+32C>G (n.431+32C>G) c.554+32C>G (n.554+32C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986563C>T | CA2632803672 | HSD3B7 | c.431+32C>T (n.431+32C>T) c.554+32C>T (n.554+32C>T) | gnomAD v4 |
| 16 | g.30986564C= | CA2216822107 | HSD3B7 | c.431+33C= (n.431+33C=) c.554+33C= (n.554+33C=) | |
| 16 | g.30986564C>G | CA8017991 | HSD3B7 | c.431+33C>G (n.431+33C>G) c.554+33C>G (n.554+33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986565C= | CA2216822111 | HSD3B7 | c.431+34C= (n.431+34C=) c.554+34C= (n.554+34C=) | |
| 16 | g.30986565C>G | CA622171164 | HSD3B7 | c.431+34C>G (n.431+34C>G) c.554+34C>G (n.554+34C>G) | dbSNP gnomAD v2 |
| 16 | g.30986566A>G | CA2575973594 | HSD3B7 | c.431+35A>G (n.431+35A>G) c.554+35A>G (n.554+35A>G) | |
| 16 | g.30986571C>A | CA2575973595 | HSD3B7 | c.432-34C>A (n.432-34C>A) c.555-34C>A (n.555-34C>A) | |
| 16 | g.30986572C= | CA2216822113 | HSD3B7 | c.432-33C= (n.432-33C=) c.555-33C= (n.555-33C=) | |
| 16 | g.30986572C>T | CA2216822114 | HSD3B7 | c.432-33C>T (n.432-33C>T) c.555-33C>T (n.555-33C>T) | dbSNP gnomAD v4 |
| 16 | g.30986574C>T | CA2632803679 | HSD3B7 | c.432-31C>T (n.432-31C>T) c.555-31C>T (n.555-31C>T) | gnomAD v4 |
| 16 | g.30986575A>G | CA2632803681 | HSD3B7 | c.432-30A>G (n.432-30A>G) c.555-30A>G (n.555-30A>G) | gnomAD v4 |
| 16 | g.30986576del | CA2806494006 | HSD3B7 | c.432-29del (n.432-29del) c.555-29del (n.555-29del) | |
| 16 | g.30986577C= | CA2216822116 | HSD3B7 | c.432-28C= (n.432-28C=) c.555-28C= (n.555-28C=) | |
| 16 | g.30986577C>T | CA8017992 | HSD3B7 | c.432-28C>T (n.432-28C>T) c.555-28C>T (n.555-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986581G>A | CA8017993 | HSD3B7 | c.432-24G>A (n.432-24G>A) c.555-24G>A (n.555-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986581G= | CA2216822117 | HSD3B7 | c.432-24G= (n.432-24G=) c.555-24G= (n.555-24G=) | |
| 16 | g.30986582_30986583del | CA2632803683 | HSD3B7 | c.432-23_432-22del (n.432-23_432-22del) c.555-23_555-22del (n.555-23_555-22del) | gnomAD v4 |
| 16 | g.30986584T>C | CA622171166 | HSD3B7 | c.432-21T>C (n.432-21T>C) c.555-21T>C (n.555-21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986584T= | CA2216822120 | HSD3B7 | c.432-21T= (n.432-21T=) c.555-21T= (n.555-21T=) | |
| 16 | g.30986584_30986588delinsTCTTC | CA2216822123 | HSD3B7 | c.432-21_432-17delinsTCTTC (n.432-21_432-17delinsTCTTC) c.555-21_555-17delinsTCTTC (n.555-21_555-17delinsTCTTC) | |
| 16 | g.30986585C= | CA2216822129 | HSD3B7 | c.432-20C= (n.432-20C=) c.555-20C= (n.555-20C=) | |
| 16 | g.30986585C>T | CA719897782 | HSD3B7 | c.432-20C>T (n.432-20C>T) c.555-20C>T (n.555-20C>T) | dbSNP gnomAD v4 |
| 16 | g.30986589_30986592del | CA8017994 | HSD3B7 | c.432-16_432-13del (n.432-16_432-13del) c.555-16_555-13del (n.555-16_555-13del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.30986586T>A | CA280561979 | HSD3B7 | c.432-19T>A (n.432-19T>A) c.555-19T>A (n.555-19T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986586T>C | CA8017995 | HSD3B7 | c.432-19T>C (n.432-19T>C) c.555-19T>C (n.555-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986586T= | CA2216822131 | HSD3B7 | c.432-19T= (n.432-19T=) c.555-19T= (n.555-19T=) | |
| 16 | g.30986588C>T | CA2575973596 | HSD3B7 | c.432-17C>T (n.432-17C>T) c.555-17C>T (n.555-17C>T) | gnomAD v4 |
| 16 | g.30986591T>C | CA622171168 | HSD3B7 | c.432-14T>C (n.432-14T>C) c.555-14T>C (n.555-14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986591T= | CA2216822140 | HSD3B7 | c.432-14T= (n.432-14T=) c.555-14T= (n.555-14T=) | |
| 16 | g.30986591_30986594delinsTCTC | CA2216822136 | HSD3B7 | c.432-14_432-11delinsTCTC (n.432-14_432-11delinsTCTC) c.555-14_555-11delinsTCTC (n.555-14_555-11delinsTCTC) | |
| 16 | g.30986592C= | CA2216822142 | HSD3B7 | c.432-13C= (n.432-13C=) c.555-13C= (n.555-13C=) | |
| 16 | g.30986592C>T | CA8017996 | HSD3B7 | c.432-13C>T (n.432-13C>T) c.555-13C>T (n.555-13C>T) | dbSNP ExAC gnomAD v2 |
| 16 | g.30986596_30986598del | CA280561988 | HSD3B7 | c.432-9_432-7del (n.432-9_432-7del) c.555-9_555-7del (n.555-9_555-7del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986593T>G | CA2575973597 | HSD3B7 | c.432-12T>G (n.432-12T>G) c.555-12T>G (n.555-12T>G) | |
| 16 | g.30986594C>G | CA2632803697 | HSD3B7 | c.432-11C>G (n.432-11C>G) c.555-11C>G (n.555-11C>G) | gnomAD v4 |
| 16 | g.30986597C>G | CA2632803698 | HSD3B7 | c.432-8C>G (n.432-8C>G) c.555-8C>G (n.555-8C>G) | gnomAD v4 |
| 16 | g.30986598C>T | CA2632803699 | HSD3B7 | c.432-7C>T (n.432-7C>T) c.555-7C>T (n.555-7C>T) | gnomAD v4 |
| 16 | g.30986599C>A | CA2632803701 | HSD3B7 | c.432-6C>A (n.432-6C>A) c.555-6C>A (n.555-6C>A) | gnomAD v4 |
| 16 | g.30986599C>T | CA2632803702 | HSD3B7 | c.432-6C>T (n.432-6C>T) c.555-6C>T (n.555-6C>T) | gnomAD v4 |
| 16 | g.30986600A>G | CA2632803704 | HSD3B7 | c.432-5A>G (n.432-5A>G) c.555-5A>G (n.555-5A>G) | gnomAD v4 |
| 16 | g.30986602C>A | CA622171169 | HSD3B7 | c.432-3C>A (n.432-3C>A) c.555-3C>A (n.555-3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986602C= | CA2216822147 | HSD3B7 | c.432-3C= (n.432-3C=) c.555-3C= (n.555-3C=) | |
| 16 | g.30986602C>T | CA719897801 | HSD3B7 | c.432-3C>T (n.432-3C>T) c.555-3C>T (n.555-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986603del | CA2632803708 | HSD3B7 | c.432-2del (n.432-2del) c.555-2del (n.555-2del) | gnomAD v4 |
| 16 | g.30986603A>C | CA395640421 | HSD3B7 | c.432-2A>C (n.432-2A>C) c.555-2A>C (n.555-2A>C) | |
| 16 | g.30986603A>G | CA395640423 | HSD3B7 | c.432-2A>G (n.432-2A>G) c.555-2A>G (n.555-2A>G) | gnomAD v4 |
| 16 | g.30986603A>T | CA395640425 | HSD3B7 | c.432-2A>T (n.432-2A>T) c.555-2A>T (n.555-2A>T) | |
| 16 | g.30986604G>A | CA395640433 | HSD3B7 | c.432-1G>A (n.432-1G>A) c.555-1G>A (n.555-1G>A) | |
| 16 | g.30986604G>C | CA395640431 | HSD3B7 | c.432-1G>C (n.432-1G>C) c.555-1G>C (n.555-1G>C) | |
| 16 | g.30986604G= | CA2216822157 | HSD3B7 | c.432-1G= (n.432-1G=) c.555-1G= (n.555-1G=) | |
| 16 | g.30986604G>T | CA395640427 | HSD3B7 | c.432-1G>T (n.432-1G>T) c.555-1G>T (n.555-1G>T) | dbSNP |
| 16 | g.30986604_30986632delinsGGGGCAACGAAGACACCCCATACGAAGCA | CA2216822154 | HSD3B7 | c.432-1_459delinsGGGGCAACGAAGACACCCCATACGAAGCA c.555-1_582delinsGGGGCAACGAAGACACCCCATACGAAGCA | |
| 16 | g.30986605G>A | CA494920658 | HSD3B7 | c.432G>A (p.Arg144=) c.555G>A (p.Arg185=) | |
| 16 | g.30986605G>C | CA395640434 | HSD3B7 | c.432G>C (p.Arg144Ser) c.555G>C (p.Arg185Ser) | |
| 16 | g.30986605G>T | CA395640436 | HSD3B7 | c.432G>T (p.Arg144Ser) c.555G>T (p.Arg185Ser) | |
| 16 | g.30986606_30986633del | CA8017997 | HSD3B7 | c.433_460del (p.Gly145CysfsTer?) c.556_583del (p.Gly186CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986606G>A | CA395640440 | HSD3B7 | c.433G>A (p.Gly145Ser) c.556G>A (p.Gly186Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986606G>C | CA395640442 | HSD3B7 | c.433G>C (p.Gly145Arg) c.556G>C (p.Gly186Arg) | |
| 16 | g.30986606G= | CA2216822165 | HSD3B7 | c.433G= (p.Gly145=) c.556G= (p.Gly186=) | |
| 16 | g.30986606G>T | CA395640444 | HSD3B7 | c.433G>T (p.Gly145Cys) c.556G>T (p.Gly186Cys) | |
| 16 | g.30986607G>A | CA395640446 | HSD3B7 | c.434G>A (p.Gly145Asp) c.557G>A (p.Gly186Asp) | gnomAD v4 |
| 16 | g.30986607G>C | CA395640450 | HSD3B7 | c.434G>C (p.Gly145Ala) c.557G>C (p.Gly186Ala) | |
| 16 | g.30986607G>T | CA395640448 | HSD3B7 | c.434G>T (p.Gly145Val) c.557G>T (p.Gly186Val) | gnomAD v4 |
| 16 | g.30986608C>A | CA494920660 | HSD3B7 | c.435C>A (p.Gly145=) c.558C>A (p.Gly186=) | |
| 16 | g.30986608C>G | CA494920661 | HSD3B7 | c.435C>G (p.Gly145=) c.558C>G (p.Gly186=) | |
| 16 | g.30986608C>T | CA494920662 | HSD3B7 | c.435C>T (p.Gly145=) c.558C>T (p.Gly186=) | |
| 16 | g.30986609A>C | CA395640452 | HSD3B7 | c.436A>C (p.Asn146His) c.559A>C (p.Asn187His) | |
| 16 | g.30986609A>G | CA395640455 | HSD3B7 | c.436A>G (p.Asn146Asp) c.559A>G (p.Asn187Asp) | |
| 16 | g.30986609A>T | CA395640456 | HSD3B7 | c.436A>T (p.Asn146Tyr) c.559A>T (p.Asn187Tyr) | |
| 16 | g.30986610A>C | CA395640459 | HSD3B7 | c.437A>C (p.Asn146Thr) c.560A>C (p.Asn187Thr) | |
| 16 | g.30986610A>G | CA395640461 | HSD3B7 | c.437A>G (p.Asn146Ser) c.560A>G (p.Asn187Ser) | |
| 16 | g.30986610A>T | CA395640462 | HSD3B7 | c.437A>T (p.Asn146Ile) c.560A>T (p.Asn187Ile) | |
| 16 | g.30986611C>A | CA395640466 | HSD3B7 | c.438C>A (p.Asn146Lys) c.561C>A (p.Asn187Lys) | |
| 16 | g.30986611C= | CA2216822175 | HSD3B7 | c.438C= (p.Asn146=) c.561C= (p.Asn187=) | |
| 16 | g.30986611C>G | CA395640467 | HSD3B7 | c.438C>G (p.Asn146Lys) c.561C>G (p.Asn187Lys) | |
| 16 | g.30986611C>T | CA280561997 | HSD3B7 | c.438C>T (p.Asn146=) c.561C>T (p.Asn187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986612G>A | CA115827 | HSD3B7 | c.439G>A (p.Glu147Lys) c.562G>A (p.Glu188Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986612G>C | CA395640470 | HSD3B7 | c.439G>C (p.Glu147Gln) c.562G>C (p.Glu188Gln) | |
| 16 | g.30986612G= | CA2216822183 | HSD3B7 | c.439G= (p.Glu147=) c.562G= (p.Glu188=) | |
| 16 | g.30986612G>T | CA395640472 | HSD3B7 | c.439G>T (p.Glu147Ter) c.562G>T (p.Glu188Ter) | |
| 16 | g.30986613A>C | CA395640477 | HSD3B7 | c.440A>C (p.Glu147Ala) c.563A>C (p.Glu188Ala) | |
| 16 | g.30986613A>G | CA395640475 | HSD3B7 | c.440A>G (p.Glu147Gly) c.563A>G (p.Glu188Gly) | |
| 16 | g.30986613A>T | CA395640474 | HSD3B7 | c.440A>T (p.Glu147Val) c.563A>T (p.Glu188Val) | |
| 16 | g.30986614A>C | CA395640479 | HSD3B7 | c.441A>C (p.Glu147Asp) c.564A>C (p.Glu188Asp) | |
| 16 | g.30986614A>G | CA494920667 | HSD3B7 | c.441A>G (p.Glu147=) c.564A>G (p.Glu188=) | |
| 16 | g.30986614A>T | CA395640481 | HSD3B7 | c.441A>T (p.Glu147Asp) c.564A>T (p.Glu188Asp) | |
| 16 | g.30986615G>A | CA395640482 | HSD3B7 | c.442G>A (p.Asp148Asn) c.565G>A (p.Asp189Asn) | gnomAD v4 |
| 16 | g.30986615G>C | CA395640483 | HSD3B7 | c.442G>C (p.Asp148His) c.565G>C (p.Asp189His) | |
| 16 | g.30986615G>T | CA395640485 | HSD3B7 | c.442G>T (p.Asp148Tyr) c.565G>T (p.Asp189Tyr) |