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 |
|---|---|---|---|---|---|
| 8 | g.1857970_1857974del | CA2685945709 | ARHGEF10 | c.48_52del (p.Met16IlefsTer2) c.507_511del c.638_*3del (n.[c.638_*3del;Ter213TyrextTer?]) c.438_442del c.120_124del (p.Met40IlefsTer2) c.3_7del (p.Met1IlefsTer2) c.132_136del (p.Met44IlefsTer2) | gnomAD v4 |
| 8 | g.1857962A>C | CA369954739 | ARHGEF10 | c.40A>C (p.Asn14His) c.499A>C c.630A>C (p.Lys210Asn) c.430A>C c.112A>C (p.Asn38His) c.-6A>C (n.-6A>C) c.124A>C (p.Asn42His) | |
| 8 | g.1857962A>G | CA369954740 | ARHGEF10 | c.40A>G (p.Asn14Asp) c.499A>G c.630A>G (p.Lys210=) c.430A>G c.112A>G (p.Asn38Asp) c.-6A>G (n.-6A>G) c.124A>G (p.Asn42Asp) | |
| 8 | g.1857962A>T | CA369954741 | ARHGEF10 | c.40A>T (p.Asn14Tyr) c.499A>T c.630A>T (p.Lys210Asn) c.430A>T c.112A>T (p.Asn38Tyr) c.-6A>T (n.-6A>T) c.124A>T (p.Asn42Tyr) | |
| 8 | g.1857963A= | CA1757725651 | ARHGEF10 | c.41A= (p.Asn14=) c.500A= c.631A= (p.Met211=) c.431A= c.113A= (p.Asn38=) c.-5A= (n.-5A=) c.125A= (p.Asn42=) | |
| 8 | g.1857963A>C | CA369954742 | ARHGEF10 | c.41A>C (p.Asn14Thr) c.500A>C c.631A>C (p.Met211Leu) c.431A>C c.113A>C (p.Asn38Thr) c.-5A>C (n.-5A>C) c.125A>C (p.Asn42Thr) | |
| 8 | g.1857963A>G | CA369954743 | ARHGEF10 | c.41A>G (p.Asn14Ser) c.500A>G c.631A>G (p.Met211Val) c.431A>G c.113A>G (p.Asn38Ser) c.-5A>G (n.-5A>G) c.125A>G (p.Asn42Ser) | |
| 8 | g.1857963A>T | CA369954744 | ARHGEF10 | c.41A>T (p.Asn14Ile) c.500A>T c.631A>T (p.Met211Leu) c.431A>T c.113A>T (p.Asn38Ile) c.-5A>T (n.-5A>T) c.125A>T (p.Asn42Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1857964T>A | CA369954745 | ARHGEF10 | c.42T>A (p.Asn14Lys) c.501T>A c.632T>A (p.Met211Lys) c.432T>A c.114T>A (p.Asn38Lys) c.-4T>A (n.-4T>A) c.126T>A (p.Asn42Lys) | |
| 8 | g.1857964T>C | CA4599566 | ARHGEF10 | c.42T>C (p.Asn14=) c.501T>C c.632T>C (p.Met211Thr) c.432T>C c.114T>C (p.Asn38=) c.-4T>C (n.-4T>C) c.126T>C (p.Asn42=) | dbSNP ExAC gnomAD v2 |
| 8 | g.1857964T>G | CA369954746 | ARHGEF10 | c.42T>G (p.Asn14Lys) c.501T>G c.632T>G (p.Met211Arg) c.432T>G c.114T>G (p.Asn38Lys) c.-4T>G (n.-4T>G) c.126T>G (p.Asn42Lys) | |
| 8 | g.1857964T= | CA1757725653 | ARHGEF10 | c.42T= (p.Asn14=) c.501T= c.632T= (p.Met211=) c.432T= c.114T= (p.Asn38=) c.-4T= (n.-4T=) c.126T= (p.Asn42=) | |
| 8 | g.1857965G>A | CA369954749 | ARHGEF10 | c.43G>A (p.Glu15Lys) c.502G>A c.633G>A (p.Met211Ile) c.433G>A c.115G>A (p.Glu39Lys) c.-3G>A (n.-3G>A) c.127G>A (p.Glu43Lys) | |
| 8 | g.1857965G>C | CA369954748 | ARHGEF10 | c.43G>C (p.Glu15Gln) c.502G>C c.633G>C (p.Met211Ile) c.433G>C c.115G>C (p.Glu39Gln) c.-3G>C (n.-3G>C) c.127G>C (p.Glu43Gln) | |
| 8 | g.1857965G>T | CA369954747 | ARHGEF10 | c.43G>T (p.Glu15Ter) c.502G>T c.633G>T (p.Met211Ile) c.433G>T c.115G>T (p.Glu39Ter) c.-3G>T (n.-3G>T) c.127G>T (p.Glu43Ter) | |
| 8 | g.1857966A= | CA1757725654 | ARHGEF10 | c.44A= (p.Glu15=) c.503A= c.634A= (p.Lys212=) c.434A= c.116A= (p.Glu39=) c.-2A= (n.-2A=) c.128A= (p.Glu43=) | |
| 8 | g.1857966A>C | CA369954750 | ARHGEF10 | c.44A>C (p.Glu15Ala) c.503A>C c.634A>C (p.Lys212Gln) c.434A>C c.116A>C (p.Glu39Ala) c.-2A>C (n.-2A>C) c.128A>C (p.Glu43Ala) | |
| 8 | g.1857966A>G | CA369954751 | ARHGEF10 | c.44A>G (p.Glu15Gly) c.503A>G c.634A>G (p.Lys212Glu) c.434A>G c.116A>G (p.Glu39Gly) c.-2A>G (n.-2A>G) c.128A>G (p.Glu43Gly) | dbSNP gnomAD v4 |
| 8 | g.1857966A>T | CA369954752 | ARHGEF10 | c.44A>T (p.Glu15Val) c.503A>T c.634A>T (p.Lys212Ter) c.434A>T c.116A>T (p.Glu39Val) c.-2A>T (n.-2A>T) c.128A>T (p.Glu43Val) | |
| 8 | g.1857967A= | CA1757725656 | ARHGEF10 | c.45A= (p.Glu15=) c.504A= c.635A= (p.Lys212=) c.435A= c.117A= (p.Glu39=) c.-1A= (n.-1A=) c.129A= (p.Glu43=) | |
| 8 | g.1857967A>C | CA4599567 | ARHGEF10 | c.45A>C (p.Glu15Asp) c.504A>C c.635A>C (p.Lys212Thr) c.435A>C c.117A>C (p.Glu39Asp) c.-1A>C (n.-1A>C) c.129A>C (p.Glu43Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1857967A>G | CA459053660 | ARHGEF10 | c.45A>G (p.Glu15=) c.504A>G c.635A>G (p.Lys212Arg) c.435A>G c.117A>G (p.Glu39=) c.-1A>G (n.-1A>G) c.129A>G (p.Glu43=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1857967A>T | CA369954753 | ARHGEF10 | c.45A>T (p.Glu15Asp) c.504A>T c.635A>T (p.Lys212Ile) c.435A>T c.117A>T (p.Glu39Asp) c.-1A>T (n.-1A>T) c.129A>T (p.Glu43Asp) | |
| 8 | g.1857968A>C | CA369954756 | ARHGEF10 | c.46A>C (p.Met16Leu) c.505A>C c.636A>C (p.Lys212Asn) c.436A>C c.118A>C (p.Met40Leu) c.1A>C (p.Met1Leu) c.130A>C (p.Met44Leu) | |
| 8 | g.1857968A>G | CA369954755 | ARHGEF10 | c.46A>G (p.Met16Val) c.505A>G c.636A>G (p.Lys212=) c.436A>G c.118A>G (p.Met40Val) c.1A>G (p.Met1Val) c.130A>G (p.Met44Val) | |
| 8 | g.1857968A>T | CA369954754 | ARHGEF10 | c.46A>T (p.Met16Leu) c.505A>T c.636A>T (p.Lys212Asn) c.436A>T c.118A>T (p.Met40Leu) c.1A>T (p.Met1Leu) c.130A>T (p.Met44Leu) | |
| 8 | g.1857969T>A | CA369954757 | ARHGEF10 | c.47T>A (p.Met16Lys) c.506T>A c.637T>A (p.Ter213Arg) c.437T>A c.119T>A (p.Met40Lys) c.2T>A (p.Met1Lys) c.131T>A (p.Met44Lys) | |
| 8 | g.1857969T>C | CA369954758 | ARHGEF10 | c.47T>C (p.Met16Thr) c.506T>C c.637T>C (p.Ter213Arg) c.437T>C c.119T>C (p.Met40Thr) c.2T>C (p.Met1Thr) c.131T>C (p.Met44Thr) | gnomAD v4 |
| 8 | g.1857969T>G | CA369954759 | ARHGEF10 | c.47T>G (p.Met16Arg) c.506T>G c.637T>G (p.Ter213Gly) c.437T>G c.119T>G (p.Met40Arg) c.2T>G (p.Met1Arg) c.131T>G (p.Met44Arg) | gnomAD v4 |
| 8 | g.1857970G>A | CA369954760 | ARHGEF10 | c.48G>A (p.Met16Ile) c.507G>A c.638G>A (p.Ter213=) c.438G>A c.120G>A (p.Met40Ile) c.3G>A (p.Met1Ile) c.132G>A (p.Met44Ile) | |
| 8 | g.1857970G>C | CA369954761 | ARHGEF10 | c.48G>C (p.Met16Ile) c.507G>C c.638G>C (p.Ter213Ser) c.438G>C c.120G>C (p.Met40Ile) c.3G>C (p.Met1Ile) c.132G>C (p.Met44Ile) | |
| 8 | g.1857970G>T | CA369954762 | ARHGEF10 | c.48G>T (p.Met16Ile) c.507G>T c.638G>T (p.Ter213Leu) c.438G>T c.120G>T (p.Met40Ile) c.3G>T (p.Met1Ile) c.132G>T (p.Met44Ile) | |
| 8 | g.1857971A= | CA1757725662 | ARHGEF10 | c.49A= (p.Lys17=) c.508A= c.639A= (p.Ter213=) c.439A= c.121A= (p.Lys41=) c.4A= (p.Lys2=) c.133A= (p.Lys45=) | |
| 8 | g.1857971A>C | CA369954763 | ARHGEF10 | c.49A>C (p.Lys17Gln) c.508A>C c.639A>C (p.Ter213Cys) c.439A>C c.121A>C (p.Lys41Gln) c.4A>C (p.Lys2Gln) c.133A>C (p.Lys45Gln) | dbSNP gnomAD v4 |
| 8 | g.1857971A>G | CA369954765 | ARHGEF10 | c.49A>G (p.Lys17Glu) c.508A>G c.639A>G (p.Ter213Trp) c.439A>G c.121A>G (p.Lys41Glu) c.4A>G (p.Lys2Glu) c.133A>G (p.Lys45Glu) | |
| 8 | g.1857971A>T | CA369954764 | ARHGEF10 | c.49A>T (p.Lys17Ter) c.508A>T c.639A>T (p.Ter213Cys) c.439A>T c.121A>T (p.Lys41Ter) c.4A>T (p.Lys2Ter) c.133A>T (p.Lys45Ter) | |
| 8 | g.1857972A>C | CA369954766 | ARHGEF10 | c.50A>C (p.Lys17Thr) c.509A>C c.*1A>C (n.*1A>C) c.440A>C c.122A>C (p.Lys41Thr) c.5A>C (p.Lys2Thr) c.134A>C (p.Lys45Thr) | gnomAD v4 |
| 8 | g.1857972A>G | CA369954767 | ARHGEF10 | c.50A>G (p.Lys17Arg) c.509A>G c.*1A>G (n.*1A>G) c.440A>G c.122A>G (p.Lys41Arg) c.5A>G (p.Lys2Arg) c.134A>G (p.Lys45Arg) | ClinVar |
| 8 | g.1857972A>T | CA369954768 | ARHGEF10 | c.50A>T (p.Lys17Ile) c.509A>T c.*1A>T (n.*1A>T) c.440A>T c.122A>T (p.Lys41Ile) c.5A>T (p.Lys2Ile) c.134A>T (p.Lys45Ile) | |
| 8 | g.1857973A= | CA1757725667 | ARHGEF10 | c.51A= (p.Lys17=) c.510A= c.*2A= (n.*2A=) c.441A= c.123A= (p.Lys41=) c.6A= (p.Lys2=) c.135A= (p.Lys45=) | |
| 8 | g.1857973A>C | CA369954769 | ARHGEF10 | c.51A>C (p.Lys17Asn) c.510A>C c.*2A>C (n.*2A>C) c.441A>C c.123A>C (p.Lys41Asn) c.6A>C (p.Lys2Asn) c.135A>C (p.Lys45Asn) | |
| 8 | g.1857973A>G | CA4599568 | ARHGEF10 | c.51A>G (p.Lys17=) c.510A>G c.*2A>G (n.*2A>G) c.441A>G c.123A>G (p.Lys41=) c.6A>G (p.Lys2=) c.135A>G (p.Lys45=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1857973A>T | CA369954770 | ARHGEF10 | c.51A>T (p.Lys17Asn) c.510A>T c.*2A>T (n.*2A>T) c.441A>T c.123A>T (p.Lys41Asn) c.6A>T (p.Lys2Asn) c.135A>T (p.Lys45Asn) | |
| 8 | g.1857974T>A | CA369954771 | ARHGEF10 | c.52T>A (p.Tyr18Asn) c.511T>A c.*3T>A (n.*3T>A) c.442T>A c.124T>A (p.Tyr42Asn) c.7T>A (p.Tyr3Asn) c.136T>A (p.Tyr46Asn) | |
| 8 | g.1857974T>C | CA369954772 | ARHGEF10 | c.52T>C (p.Tyr18His) c.511T>C c.*3T>C (n.*3T>C) c.442T>C c.124T>C (p.Tyr42His) c.7T>C (p.Tyr3His) c.136T>C (p.Tyr46His) | |
| 8 | g.1857974T>G | CA369954773 | ARHGEF10 | c.52T>G (p.Tyr18Asp) c.511T>G c.*3T>G (n.*3T>G) c.442T>G c.124T>G (p.Tyr42Asp) c.7T>G (p.Tyr3Asp) c.136T>G (p.Tyr46Asp) | |
| 8 | g.1857974_1857977delinsTATG | CA1757725671 | ARHGEF10 | c.52_55delinsTATG (p.Tyr18=) c.511_514delinsTATG c.*3_*6delinsTATG (n.*3_*6delinsTATG) c.442_445delinsTATG c.124_127delinsTATG (p.Tyr42=) c.7_10delinsTATG (p.Tyr3=) c.136_139delinsTATG (p.Tyr46=) | |
| 8 | g.1857975A= | CA1757725676 | ARHGEF10 | c.53A= (p.Tyr18=) c.512A= c.*4A= (n.*4A=) c.443A= c.125A= (p.Tyr42=) c.8A= (p.Tyr3=) c.137A= (p.Tyr46=) | |
| 8 | g.1857975A>C | CA369954775 | ARHGEF10 | c.53A>C (p.Tyr18Ser) c.512A>C c.*4A>C (n.*4A>C) c.443A>C c.125A>C (p.Tyr42Ser) c.8A>C (p.Tyr3Ser) c.137A>C (p.Tyr46Ser) | |
| 8 | g.1857975A>G | CA4599570 | ARHGEF10 | c.53A>G (p.Tyr18Cys) c.512A>G c.*4A>G (n.*4A>G) c.443A>G c.125A>G (p.Tyr42Cys) c.8A>G (p.Tyr3Cys) c.137A>G (p.Tyr46Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |