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 |
|---|---|---|---|---|---|
| 9 | g.104790919C= | CA1869916730 | ABCA1 | c.5927+3G= (n.5927+3G=) c.5933+3G= (n.5933+3G=) c.5753+3G= (n.5753+3G=) c.6008+3G= (n.6008+3G=) c.6002+3G= (n.6002+3G=) c.5570+3G= (n.5570+3G=) c.5870+3G= (n.5870+3G=) n.6321+3G= | |
| 9 | g.104790919C>T | CA5167695 | ABCA1 | c.5927+3G>A (n.5927+3G>A) c.5933+3G>A (n.5933+3G>A) c.5753+3G>A (n.5753+3G>A) c.6008+3G>A (n.6008+3G>A) c.6002+3G>A (n.6002+3G>A) c.5570+3G>A (n.5570+3G>A) c.5870+3G>A (n.5870+3G>A) n.6321+3G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104790920A>C | CA374309658 | ABCA1 | c.5927+2T>G (n.5927+2T>G) c.5933+2T>G (n.5933+2T>G) c.5753+2T>G (n.5753+2T>G) c.6008+2T>G (n.6008+2T>G) c.6002+2T>G (n.6002+2T>G) c.5570+2T>G (n.5570+2T>G) c.5870+2T>G (n.5870+2T>G) n.6321+2T>G | |
| 9 | g.104790920A>G | CA374309657 | ABCA1 | c.5927+2T>C (n.5927+2T>C) c.5933+2T>C (n.5933+2T>C) c.5753+2T>C (n.5753+2T>C) c.6008+2T>C (n.6008+2T>C) c.6002+2T>C (n.6002+2T>C) c.5570+2T>C (n.5570+2T>C) c.5870+2T>C (n.5870+2T>C) n.6321+2T>C | |
| 9 | g.104790920A>T | CA374309656 | ABCA1 | c.5927+2T>A (n.5927+2T>A) c.5933+2T>A (n.5933+2T>A) c.5753+2T>A (n.5753+2T>A) c.6008+2T>A (n.6008+2T>A) c.6002+2T>A (n.6002+2T>A) c.5570+2T>A (n.5570+2T>A) c.5870+2T>A (n.5870+2T>A) n.6321+2T>A | |
| 9 | g.104790921C>A | CA374309659 | ABCA1 | c.5927+1G>T (n.5927+1G>T) c.5933+1G>T (n.5933+1G>T) c.5753+1G>T (n.5753+1G>T) c.6008+1G>T (n.6008+1G>T) c.6002+1G>T (n.6002+1G>T) c.5570+1G>T (n.5570+1G>T) c.5870+1G>T (n.5870+1G>T) n.6321+1G>T | |
| 9 | g.104790921C>G | CA374309660 | ABCA1 | c.5927+1G>C (n.5927+1G>C) c.5933+1G>C (n.5933+1G>C) c.5753+1G>C (n.5753+1G>C) c.6008+1G>C (n.6008+1G>C) c.6002+1G>C (n.6002+1G>C) c.5570+1G>C (n.5570+1G>C) c.5870+1G>C (n.5870+1G>C) n.6321+1G>C | |
| 9 | g.104790921C>T | CA374309662 | ABCA1 | c.5927+1G>A (n.5927+1G>A) c.5933+1G>A (n.5933+1G>A) c.5753+1G>A (n.5753+1G>A) c.6008+1G>A (n.6008+1G>A) c.6002+1G>A (n.6002+1G>A) c.5570+1G>A (n.5570+1G>A) c.5870+1G>A (n.5870+1G>A) n.6321+1G>A | |
| 9 | g.104790922C>A | CA374309664 | ABCA1 | c.5927G>T (p.Ser1976Ile) c.5933G>T (p.Ser1978Ile) c.5753G>T (p.Ser1918Ile) c.6008G>T (p.Ser2003Ile) c.6002G>T (p.Ser2001Ile) c.5570G>T (p.Ser1857Ile) c.5870G>T (p.Ser1957Ile) n.6321G>T | |
| 9 | g.104790922C= | CA1869916738 | ABCA1 | c.5927G= (p.Ser1976=) c.5933G= (p.Ser1978=) c.5753G= (p.Ser1918=) c.6008G= (p.Ser2003=) c.6002G= (p.Ser2001=) c.5570G= (p.Ser1857=) c.5870G= (p.Ser1957=) n.6321G= | |
| 9 | g.104790922C>G | CA374309666 | ABCA1 | c.5927G>C (p.Ser1976Thr) c.5933G>C (p.Ser1978Thr) c.5753G>C (p.Ser1918Thr) c.6008G>C (p.Ser2003Thr) c.6002G>C (p.Ser2001Thr) c.5570G>C (p.Ser1857Thr) c.5870G>C (p.Ser1957Thr) n.6321G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104790922C>T | CA374309668 | ABCA1 | c.5927G>A (p.Ser1976Asn) c.5933G>A (p.Ser1978Asn) c.5753G>A (p.Ser1918Asn) c.6008G>A (p.Ser2003Asn) c.6002G>A (p.Ser2001Asn) c.5570G>A (p.Ser1857Asn) c.5870G>A (p.Ser1957Asn) n.6321G>A | |
| 9 | g.104790923T>A | CA374309670 | ABCA1 | c.5926A>T (p.Ser1976Cys) c.5932A>T (p.Ser1978Cys) c.5752A>T (p.Ser1918Cys) c.6007A>T (p.Ser2003Cys) c.6001A>T (p.Ser2001Cys) c.5569A>T (p.Ser1857Cys) c.5869A>T (p.Ser1957Cys) n.6320A>T | |
| 9 | g.104790923T>C | CA374309672 | ABCA1 | c.5926A>G (p.Ser1976Gly) c.5932A>G (p.Ser1978Gly) c.5752A>G (p.Ser1918Gly) c.6007A>G (p.Ser2003Gly) c.6001A>G (p.Ser2001Gly) c.5569A>G (p.Ser1857Gly) c.5869A>G (p.Ser1957Gly) n.6320A>G | |
| 9 | g.104790923T>G | CA374309673 | ABCA1 | c.5926A>C (p.Ser1976Arg) c.5932A>C (p.Ser1978Arg) c.5752A>C (p.Ser1918Arg) c.6007A>C (p.Ser2003Arg) c.6001A>C (p.Ser2001Arg) c.5569A>C (p.Ser1857Arg) c.5869A>C (p.Ser1957Arg) n.6320A>C | |
| 9 | g.104790923T= | CA1869916744 | ABCA1 | c.5926A= (p.Ser1976=) c.5932A= (p.Ser1978=) c.5752A= (p.Ser1918=) c.6007A= (p.Ser2003=) c.6001A= (p.Ser2001=) c.5569A= (p.Ser1857=) c.5869A= (p.Ser1957=) n.6320A= | |
| 9 | g.104790924A= | CA1869916755 | ABCA1 | c.5925T= (p.Asn1975=) c.5931T= (p.Asn1977=) c.5751T= (p.Asn1917=) c.6006T= (p.Asn2002=) c.6000T= (p.Asn2000=) c.5568T= (p.Asn1856=) c.5868T= (p.Asn1956=) n.6319T= | |
| 9 | g.104790924A>C | CA374309676 | ABCA1 | c.5925T>G (p.Asn1975Lys) c.5931T>G (p.Asn1977Lys) c.5751T>G (p.Asn1917Lys) c.6006T>G (p.Asn2002Lys) c.6000T>G (p.Asn2000Lys) c.5568T>G (p.Asn1856Lys) c.5868T>G (p.Asn1956Lys) n.6319T>G | |
| 9 | g.104790924A>G | CA466500906 | ABCA1 | c.5925T>C (p.Asn1975=) c.5931T>C (p.Asn1977=) c.5751T>C (p.Asn1917=) c.6006T>C (p.Asn2002=) c.6000T>C (p.Asn2000=) c.5568T>C (p.Asn1856=) c.5868T>C (p.Asn1956=) n.6319T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104790924A>T | CA374309677 | ABCA1 | c.5925T>A (p.Asn1975Lys) c.5931T>A (p.Asn1977Lys) c.5751T>A (p.Asn1917Lys) c.6006T>A (p.Asn2002Lys) c.6000T>A (p.Asn2000Lys) c.5568T>A (p.Asn1856Lys) c.5868T>A (p.Asn1956Lys) n.6319T>A | |
| 9 | g.104790924dup | CA197355047 | ABCA1 | c.5925dup (p.Ser1976Ter) c.5931dup (p.Ser1978Ter) c.5751dup (p.Ser1918Ter) c.6006dup (p.Ser2003Ter) c.6000dup (p.Ser2001Ter) c.5568dup (p.Ser1857Ter) c.5868dup (p.Ser1957Ter) n.6319dup | dbSNP |
| 9 | g.104790925T>A | CA5167696 | ABCA1 | c.5924A>T (p.Asn1975Ile) c.5930A>T (p.Asn1977Ile) c.5750A>T (p.Asn1917Ile) c.6005A>T (p.Asn2002Ile) c.5999A>T (p.Asn2000Ile) c.5567A>T (p.Asn1856Ile) c.5867A>T (p.Asn1956Ile) n.6318A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104790925T>C | CA374309680 | ABCA1 | c.5924A>G (p.Asn1975Ser) c.5930A>G (p.Asn1977Ser) c.5750A>G (p.Asn1917Ser) c.6005A>G (p.Asn2002Ser) c.5999A>G (p.Asn2000Ser) c.5567A>G (p.Asn1856Ser) c.5867A>G (p.Asn1956Ser) n.6318A>G | ClinVar |
| 9 | g.104790925T>G | CA374309679 | ABCA1 | c.5924A>C (p.Asn1975Thr) c.5930A>C (p.Asn1977Thr) c.5750A>C (p.Asn1917Thr) c.6005A>C (p.Asn2002Thr) c.5999A>C (p.Asn2000Thr) c.5567A>C (p.Asn1856Thr) c.5867A>C (p.Asn1956Thr) n.6318A>C | |
| 9 | g.104790925T= | CA1869916761 | ABCA1 | c.5924A= (p.Asn1975=) c.5930A= (p.Asn1977=) c.5750A= (p.Asn1917=) c.6005A= (p.Asn2002=) c.5999A= (p.Asn2000=) c.5567A= (p.Asn1856=) c.5867A= (p.Asn1956=) n.6318A= | |
| 9 | g.104790929del | CA2691050213 | ABCA1 | c.5924del (p.Asn1975IlefsTer27) c.5930del (p.Asn1977IlefsTer27) c.5750del (p.Asn1917IlefsTer27) c.6005del (p.Asn2002IlefsTer27) c.5999del (p.Asn2000IlefsTer27) c.5567del (p.Asn1856IlefsTer27) c.5867del (p.Asn1956IlefsTer27) n.6318del | gnomAD v4 |
| 9 | g.104790926T>A | CA374309681 | ABCA1 | c.5923A>T (p.Asn1975Tyr) c.5929A>T (p.Asn1977Tyr) c.5749A>T (p.Asn1917Tyr) c.6004A>T (p.Asn2002Tyr) c.5998A>T (p.Asn2000Tyr) c.5566A>T (p.Asn1856Tyr) c.5866A>T (p.Asn1956Tyr) n.6317A>T | |
| 9 | g.104790926T>C | CA374309683 | ABCA1 | c.5923A>G (p.Asn1975Asp) c.5929A>G (p.Asn1977Asp) c.5749A>G (p.Asn1917Asp) c.6004A>G (p.Asn2002Asp) c.5998A>G (p.Asn2000Asp) c.5566A>G (p.Asn1856Asp) c.5866A>G (p.Asn1956Asp) n.6317A>G | dbSNP |
| 9 | g.104790926T>G | CA374309685 | ABCA1 | c.5923A>C (p.Asn1975His) c.5929A>C (p.Asn1977His) c.5749A>C (p.Asn1917His) c.6004A>C (p.Asn2002His) c.5998A>C (p.Asn2000His) c.5566A>C (p.Asn1856His) c.5866A>C (p.Asn1956His) n.6317A>C | |
| 9 | g.104790926T= | CA1869916766 | ABCA1 | c.5923A= (p.Asn1975=) c.5929A= (p.Asn1977=) c.5749A= (p.Asn1917=) c.6004A= (p.Asn2002=) c.5998A= (p.Asn2000=) c.5566A= (p.Asn1856=) c.5866A= (p.Asn1956=) n.6317A= | |
| 9 | g.104790927T>A | CA374309687 | ABCA1 | c.5922A>T (p.Lys1974Asn) c.5928A>T (p.Lys1976Asn) c.5748A>T (p.Lys1916Asn) c.6003A>T (p.Lys2001Asn) c.5997A>T (p.Lys1999Asn) c.5565A>T (p.Lys1855Asn) c.5865A>T (p.Lys1955Asn) n.6316A>T | |
| 9 | g.104790927T>C | CA466500913 | ABCA1 | c.5922A>G (p.Lys1974=) c.5928A>G (p.Lys1976=) c.5748A>G (p.Lys1916=) c.6003A>G (p.Lys2001=) c.5997A>G (p.Lys1999=) c.5565A>G (p.Lys1855=) c.5865A>G (p.Lys1955=) n.6316A>G | |
| 9 | g.104790927T>G | CA374309688 | ABCA1 | c.5922A>C (p.Lys1974Asn) c.5928A>C (p.Lys1976Asn) c.5748A>C (p.Lys1916Asn) c.6003A>C (p.Lys2001Asn) c.5997A>C (p.Lys1999Asn) c.5565A>C (p.Lys1855Asn) c.5865A>C (p.Lys1955Asn) n.6316A>C | |
| 9 | g.104790928T>A | CA374309691 | ABCA1 | c.5921A>T (p.Lys1974Ile) c.5927A>T (p.Lys1976Ile) c.5747A>T (p.Lys1916Ile) c.6002A>T (p.Lys2001Ile) c.5996A>T (p.Lys1999Ile) c.5564A>T (p.Lys1855Ile) c.5864A>T (p.Lys1955Ile) n.6315A>T | |
| 9 | g.104790928T>C | CA374309693 | ABCA1 | c.5921A>G (p.Lys1974Arg) c.5927A>G (p.Lys1976Arg) c.5747A>G (p.Lys1916Arg) c.6002A>G (p.Lys2001Arg) c.5996A>G (p.Lys1999Arg) c.5564A>G (p.Lys1855Arg) c.5864A>G (p.Lys1955Arg) n.6315A>G | |
| 9 | g.104790928T>G | CA374309695 | ABCA1 | c.5921A>C (p.Lys1974Thr) c.5927A>C (p.Lys1976Thr) c.5747A>C (p.Lys1916Thr) c.6002A>C (p.Lys2001Thr) c.5996A>C (p.Lys1999Thr) c.5564A>C (p.Lys1855Thr) c.5864A>C (p.Lys1955Thr) n.6315A>C | |
| 9 | g.104790929T>A | CA374309697 | ABCA1 | c.5920A>T (p.Lys1974Ter) c.5926A>T (p.Lys1976Ter) c.5746A>T (p.Lys1916Ter) c.6001A>T (p.Lys2001Ter) c.5995A>T (p.Lys1999Ter) c.5563A>T (p.Lys1855Ter) c.5863A>T (p.Lys1955Ter) n.6314A>T | |
| 9 | g.104790929T>C | CA374309699 | ABCA1 | c.5920A>G (p.Lys1974Glu) c.5926A>G (p.Lys1976Glu) c.5746A>G (p.Lys1916Glu) c.6001A>G (p.Lys2001Glu) c.5995A>G (p.Lys1999Glu) c.5563A>G (p.Lys1855Glu) c.5863A>G (p.Lys1955Glu) n.6314A>G | |
| 9 | g.104790929T>G | CA374309701 | ABCA1 | c.5920A>C (p.Lys1974Gln) c.5926A>C (p.Lys1976Gln) c.5746A>C (p.Lys1916Gln) c.6001A>C (p.Lys2001Gln) c.5995A>C (p.Lys1999Gln) c.5563A>C (p.Lys1855Gln) c.5863A>C (p.Lys1955Gln) n.6314A>C | |
| 9 | g.104790930G>A | CA466500921 | ABCA1 | c.5919C>T (p.Asn1973=) c.5925C>T (p.Asn1975=) c.5745C>T (p.Asn1915=) c.6000C>T (p.Asn2000=) c.5994C>T (p.Asn1998=) c.5562C>T (p.Asn1854=) c.5862C>T (p.Asn1954=) n.6313C>T | gnomAD v4 |
| 9 | g.104790930G>C | CA374309703 | ABCA1 | c.5919C>G (p.Asn1973Lys) c.5925C>G (p.Asn1975Lys) c.5745C>G (p.Asn1915Lys) c.6000C>G (p.Asn2000Lys) c.5994C>G (p.Asn1998Lys) c.5562C>G (p.Asn1854Lys) c.5862C>G (p.Asn1954Lys) n.6313C>G | |
| 9 | g.104790930G= | CA1869916771 | ABCA1 | c.5919C= (p.Asn1973=) c.5925C= (p.Asn1975=) c.5745C= (p.Asn1915=) c.6000C= (p.Asn2000=) c.5994C= (p.Asn1998=) c.5562C= (p.Asn1854=) c.5862C= (p.Asn1954=) n.6313C= | |
| 9 | g.104790930G>T | CA374309705 | ABCA1 | c.5919C>A (p.Asn1973Lys) c.5925C>A (p.Asn1975Lys) c.5745C>A (p.Asn1915Lys) c.6000C>A (p.Asn2000Lys) c.5994C>A (p.Asn1998Lys) c.5562C>A (p.Asn1854Lys) c.5862C>A (p.Asn1954Lys) n.6313C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104790931T>A | CA374309710 | ABCA1 | c.5918A>T (p.Asn1973Ile) c.5924A>T (p.Asn1975Ile) c.5744A>T (p.Asn1915Ile) c.5999A>T (p.Asn2000Ile) c.5993A>T (p.Asn1998Ile) c.5561A>T (p.Asn1854Ile) c.5861A>T (p.Asn1954Ile) n.6312A>T | |
| 9 | g.104790931T>C | CA374309708 | ABCA1 | c.5918A>G (p.Asn1973Ser) c.5924A>G (p.Asn1975Ser) c.5744A>G (p.Asn1915Ser) c.5999A>G (p.Asn2000Ser) c.5993A>G (p.Asn1998Ser) c.5561A>G (p.Asn1854Ser) c.5861A>G (p.Asn1954Ser) n.6312A>G | dbSNP |
| 9 | g.104790931T>G | CA374309707 | ABCA1 | c.5918A>C (p.Asn1973Thr) c.5924A>C (p.Asn1975Thr) c.5744A>C (p.Asn1915Thr) c.5999A>C (p.Asn2000Thr) c.5993A>C (p.Asn1998Thr) c.5561A>C (p.Asn1854Thr) c.5861A>C (p.Asn1954Thr) n.6312A>C | |
| 9 | g.104790931T= | CA1869916776 | ABCA1 | c.5918A= (p.Asn1973=) c.5924A= (p.Asn1975=) c.5744A= (p.Asn1915=) c.5999A= (p.Asn2000=) c.5993A= (p.Asn1998=) c.5561A= (p.Asn1854=) c.5861A= (p.Asn1954=) n.6312A= | |
| 9 | g.104790932T>A | CA374309713 | ABCA1 | c.5917A>T (p.Asn1973Tyr) c.5923A>T (p.Asn1975Tyr) c.5743A>T (p.Asn1915Tyr) c.5998A>T (p.Asn2000Tyr) c.5992A>T (p.Asn1998Tyr) c.5560A>T (p.Asn1854Tyr) c.5860A>T (p.Asn1954Tyr) n.6311A>T | |
| 9 | g.104790932T>C | CA374309714 | ABCA1 | c.5917A>G (p.Asn1973Asp) c.5923A>G (p.Asn1975Asp) c.5743A>G (p.Asn1915Asp) c.5998A>G (p.Asn2000Asp) c.5992A>G (p.Asn1998Asp) c.5560A>G (p.Asn1854Asp) c.5860A>G (p.Asn1954Asp) n.6311A>G | |
| 9 | g.104790932T>G | CA374309716 | ABCA1 | c.5917A>C (p.Asn1973His) c.5923A>C (p.Asn1975His) c.5743A>C (p.Asn1915His) c.5998A>C (p.Asn2000His) c.5992A>C (p.Asn1998His) c.5560A>C (p.Asn1854His) c.5860A>C (p.Asn1954His) n.6311A>C |