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 |
|---|---|---|---|---|---|
| 5 | g.70936291_70945268del | CA915943371 | SMN1 | c.82-2548_723+515del c.82-2548_628-798del c.82-2548_522+515del c.82-2548_427-798del | ClinVar |
| 5 | g.70938854A>C | CA360091847 | SMN1 | c.97A>C (p.Ile33Leu) | |
| 5 | g.70938854A>G | CA360091850 | SMN1 | c.97A>G (p.Ile33Val) | |
| 5 | g.70938854A>T | CA360091853 | SMN1 | c.97A>T (p.Ile33Phe) | |
| 5 | g.70938855T>A | CA360091859 | SMN1 | c.98T>A (p.Ile33Asn) | |
| 5 | g.70938855T>C | CA360091865 | SMN1 | c.98T>C (p.Ile33Thr) | |
| 5 | g.70938855T>G | CA360091861 | SMN1 | c.98T>G (p.Ile33Ser) | |
| 5 | g.70938857del | CA2695204539 | SMN1 | c.100del (p.Trp34GlyfsTer6) | |
| 5 | g.70938856T>A | CA444963811 | SMN1 | c.99T>A (p.Ile33=) | |
| 5 | g.70938856T>C | CA444963805 | SMN1 | c.99T>C (p.Ile33=) | |
| 5 | g.70938856T>G | CA360091869 | SMN1 | c.99T>G (p.Ile33Met) | |
| 5 | g.70938857T>A | CA360091874 | SMN1 | c.100T>A (p.Trp34Arg) | |
| 5 | g.70938857T>C | CA360091877 | SMN1 | c.100T>C (p.Trp34Arg) | |
| 5 | g.70938857T>G | CA360091880 | SMN1 | c.100T>G (p.Trp34Gly) | |
| 5 | g.70938858G>A | CA360091884 | SMN1 | c.101G>A (p.Trp34Ter) | |
| 5 | g.70938858G>C | CA360091886 | SMN1 | c.101G>C (p.Trp34Ser) | |
| 5 | g.70938858G>T | CA360091895 | SMN1 | c.101G>T (p.Trp34Leu) | |
| 5 | g.70938859G>A | CA360091900 | SMN1 | c.102G>A (p.Trp34Ter) | |
| 5 | g.70938859G>C | CA360091903 | SMN1 | c.102G>C (p.Trp34Cys) | |
| 5 | g.70938859G>T | CA360091906 | SMN1 | c.102G>T (p.Trp34Cys) | |
| 5 | g.70938860G>A | CA360091909 | SMN1 | c.103G>A (p.Asp35Asn) | |
| 5 | g.70938860G>C | CA360091915 | SMN1 | c.103G>C (p.Asp35His) | |
| 5 | g.70938860G>T | CA360091912 | SMN1 | c.103G>T (p.Asp35Tyr) | |
| 5 | g.70938861A>C | CA360091919 | SMN1 | c.104A>C (p.Asp35Ala) | |
| 5 | g.70938861A>G | CA360091922 | SMN1 | c.104A>G (p.Asp35Gly) | |
| 5 | g.70938861A>T | CA360091926 | SMN1 | c.104A>T (p.Asp35Val) | |
| 5 | g.70938862T>A | CA360091929 | SMN1 | c.105T>A (p.Asp35Glu) | |
| 5 | g.70938862T>C | CA444963855 | SMN1 | c.105T>C (p.Asp35=) | |
| 5 | g.70938862T>G | CA360091933 | SMN1 | c.105T>G (p.Asp35Glu) | |
| 5 | g.70938863G>A | CA360091936 | SMN1 | c.106G>A (p.Asp36Asn) | |
| 5 | g.70938863G>C | CA360091939 | SMN1 | c.106G>C (p.Asp36His) | |
| 5 | g.70938863G>T | CA360091942 | SMN1 | c.106G>T (p.Asp36Tyr) | |
| 5 | g.70938864A>C | CA360091947 | SMN1 | c.107A>C (p.Asp36Ala) | |
| 5 | g.70938864A>G | CA360091950 | SMN1 | c.107A>G (p.Asp36Gly) | |
| 5 | g.70938864A>T | CA360091952 | SMN1 | c.107A>T (p.Asp36Val) | |
| 5 | g.70938865T>A | CA360091956 | SMN1 | c.108T>A (p.Asp36Glu) | |
| 5 | g.70938865T>C | CA444963870 | SMN1 | c.108T>C (p.Asp36=) | |
| 5 | g.70938865T>G | CA360091958 | SMN1 | c.108T>G (p.Asp36Glu) | |
| 5 | g.70938865T= | CA1554171470 | SMN1 | c.108T= (p.Asp36=) | |
| 5 | g.70938866A>C | CA360091971 | SMN1 | c.109A>C (p.Thr37Pro) | |
| 5 | g.70938866A>G | CA360091968 | SMN1 | c.109A>G (p.Thr37Ala) | |
| 5 | g.70938866A>T | CA360091964 | SMN1 | c.109A>T (p.Thr37Ser) | |
| 5 | g.70938866dup | CA891843194 | SMN1 | c.109dup (p.Thr37AsnfsTer8) | ClinVar dbSNP |
| 5 | g.70938867C>A | CA360091974 | SMN1 | c.110C>A (p.Thr37Lys) | |
| 5 | g.70938867C>G | CA360091977 | SMN1 | c.110C>G (p.Thr37Arg) | |
| 5 | g.70938867C>T | CA360091980 | SMN1 | c.110C>T (p.Thr37Ile) | |
| 5 | g.70938868A>C | CA444963876 | SMN1 | c.111A>C (p.Thr37=) | |
| 5 | g.70938868A>G | CA444963875 | SMN1 | c.111A>G (p.Thr37=) | |
| 5 | g.70938868A>T | CA444963874 | SMN1 | c.111A>T (p.Thr37=) | |
| 5 | g.70938869G>A | CA360091984 | SMN1 | c.112G>A (p.Ala38Thr) | |
| 5 | g.70938869G>C | CA360091986 | SMN1 | c.112G>C (p.Ala38Pro) | |
| 5 | g.70938869G>T | CA360091989 | SMN1 | c.112G>T (p.Ala38Ser) | |
| 5 | g.70938870C>A | CA360091993 | SMN1 | c.113C>A (p.Ala38Glu) | |
| 5 | g.70938870C>G | CA360091996 | SMN1 | c.113C>G (p.Ala38Gly) | |
| 5 | g.70938870C>T | CA360091999 | SMN1 | c.113C>T (p.Ala38Val) | |
| 5 | g.70938871A>C | CA444963892 | SMN1 | c.114A>C (p.Ala38=) | |
| 5 | g.70938871A>G | CA444963889 | SMN1 | c.114A>G (p.Ala38=) | |
| 5 | g.70938871A>T | CA444963887 | SMN1 | c.114A>T (p.Ala38=) | |
| 5 | g.70938872C>A | CA360092004 | SMN1 | c.115C>A (p.Leu39Met) | |
| 5 | g.70938872C>G | CA360092007 | SMN1 | c.115C>G (p.Leu39Val) | |
| 5 | g.70938872C>T | CA444963894 | SMN1 | c.115C>T (p.Leu39=) | |
| 5 | g.70938873T>A | CA360092013 | SMN1 | c.116T>A (p.Leu39Gln) | |
| 5 | g.70938873T>C | CA360092015 | SMN1 | c.116T>C (p.Leu39Pro) | |
| 5 | g.70938873T>G | CA360092018 | SMN1 | c.116T>G (p.Leu39Arg) | |
| 5 | g.70938874G>A | CA444963904 | SMN1 | c.117G>A (p.Leu39=) | |
| 5 | g.70938874G>C | CA444963906 | SMN1 | c.117G>C (p.Leu39=) | |
| 5 | g.70938874G>T | CA444963905 | SMN1 | c.117G>T (p.Leu39=) | |
| 5 | g.70938875A>C | CA360092032 | SMN1 | c.118A>C (p.Ile40Leu) | |
| 5 | g.70938875A>G | CA360092029 | SMN1 | c.118A>G (p.Ile40Val) | |
| 5 | g.70938875A>T | CA360092025 | SMN1 | c.118A>T (p.Ile40Leu) | |
| 5 | g.70938876T>A | CA360092037 | SMN1 | c.119T>A (p.Ile40Lys) | |
| 5 | g.70938876T>C | CA360092038 | SMN1 | c.119T>C (p.Ile40Thr) | |
| 5 | g.70938876T>G | CA360092048 | SMN1 | c.119T>G (p.Ile40Arg) | |
| 5 | g.70938877A>C | CA444963930 | SMN1 | c.120A>C (p.Ile40=) | |
| 5 | g.70938877A>G | CA360092052 | SMN1 | c.120A>G (p.Ile40Met) | |
| 5 | g.70938877A>T | CA444963934 | SMN1 | c.120A>T (p.Ile40=) | |
| 5 | g.70938878A>C | CA360092057 | SMN1 | c.121A>C (p.Lys41Gln) | |
| 5 | g.70938878A>G | CA360092059 | SMN1 | c.121A>G (p.Lys41Glu) | |
| 5 | g.70938878A>T | CA360092062 | SMN1 | c.121A>T (p.Lys41Ter) | |
| 5 | g.70938879A>C | CA360092071 | SMN1 | c.122A>C (p.Lys41Thr) | |
| 5 | g.70938879A>G | CA360092066 | SMN1 | c.122A>G (p.Lys41Arg) | |
| 5 | g.70938879A>T | CA360092069 | SMN1 | c.122A>T (p.Lys41Ile) | |
| 5 | g.70938880A>C | CA360092075 | SMN1 | c.123A>C (p.Lys41Asn) | |
| 5 | g.70938880A>G | CA444963957 | SMN1 | c.123A>G (p.Lys41=) | |
| 5 | g.70938880A>T | CA360092078 | SMN1 | c.123A>T (p.Lys41Asn) | |
| 5 | g.70938881G>A | CA360092082 | SMN1 | c.124G>A (p.Ala42Thr) | |
| 5 | g.70938881G>C | CA360092085 | SMN1 | c.124G>C (p.Ala42Pro) | |
| 5 | g.70938881G>T | CA360092086 | SMN1 | c.124G>T (p.Ala42Ser) | |
| 5 | g.70938882C>A | CA360092087 | SMN1 | c.125C>A (p.Ala42Glu) | |
| 5 | g.70938882C>G | CA360092090 | SMN1 | c.125C>G (p.Ala42Gly) | |
| 5 | g.70938882C>T | CA360092088 | SMN1 | c.125C>T (p.Ala42Val) | |
| 5 | g.70938883A>C | CA444963970 | SMN1 | c.126A>C (p.Ala42=) | |
| 5 | g.70938883A>G | CA444963973 | SMN1 | c.126A>G (p.Ala42=) | |
| 5 | g.70938883A>T | CA444963977 | SMN1 | c.126A>T (p.Ala42=) | |
| 5 | g.70938884T>A | CA360092100 | SMN1 | c.127T>A (p.Tyr43Asn) | |
| 5 | g.70938884T>C | CA360092102 | SMN1 | c.127T>C (p.Tyr43His) | |
| 5 | g.70938884T>G | CA360092103 | SMN1 | c.127T>G (p.Tyr43Asp) | |
| 5 | g.70938885A>C | CA360092106 | SMN1 | c.128A>C (p.Tyr43Ser) | |
| 5 | g.70938885A>G | CA360092108 | SMN1 | c.128A>G (p.Tyr43Cys) | |
| 5 | g.70938885A>T | CA360092109 | SMN1 | c.128A>T (p.Tyr43Phe) | |
| 5 | g.70938886T>A | CA360092111 | SMN1 | c.129T>A (p.Tyr43Ter) | |
| 5 | g.70938886T>C | CA444963987 | SMN1 | c.129T>C (p.Tyr43=) | |
| 5 | g.70938886T>G | CA360092113 | SMN1 | c.129T>G (p.Tyr43Ter) | |
| 5 | g.70938887G>A | CA360092115 | SMN1 | c.130G>A (p.Asp44Asn) | |
| 5 | g.70938887G>C | CA360092117 | SMN1 | c.130G>C (p.Asp44His) | |
| 5 | g.70938887G>T | CA360092119 | SMN1 | c.130G>T (p.Asp44Tyr) | |
| 5 | g.70938888A= | CA1554171471 | SMN1 | c.131A= (p.Asp44=) | |
| 5 | g.70938888A>C | CA360092120 | SMN1 | c.131A>C (p.Asp44Ala) | |
| 5 | g.70938888A>G | CA360092123 | SMN1 | c.131A>G (p.Asp44Gly) | |
| 5 | g.70938888A>T | CA254683 | SMN1 | c.131A>T (p.Asp44Val) | ClinVar dbSNP |
| 5 | g.70938889T>A | CA360092126 | SMN1 | c.132T>A (p.Asp44Glu) | |
| 5 | g.70938889T>C | CA444964001 | SMN1 | c.132T>C (p.Asp44=) | |
| 5 | g.70938889T>G | CA360092128 | SMN1 | c.132T>G (p.Asp44Glu) | |
| 5 | g.70938889T= | CA1554171472 | SMN1 | c.132T= (p.Asp44=) | |
| 5 | g.70938890A>C | CA360092130 | SMN1 | c.133A>C (p.Lys45Gln) | |
| 5 | g.70938890A>G | CA360092132 | SMN1 | c.133A>G (p.Lys45Glu) | |
| 5 | g.70938890A>T | CA360092134 | SMN1 | c.133A>T (p.Lys45Ter) | |
| 5 | g.70938892dup | CA658657451 | SMN1 | c.135dup (p.Ala46SerfsTer6) | ClinVar dbSNP |
| 5 | g.70938891A>C | CA360092135 | SMN1 | c.134A>C (p.Lys45Thr) | |
| 5 | g.70938891A>G | CA360092138 | SMN1 | c.134A>G (p.Lys45Arg) | |
| 5 | g.70938891A>T | CA360092140 | SMN1 | c.134A>T (p.Lys45Ile) | |
| 5 | g.70938892A>C | CA360092142 | SMN1 | c.135A>C (p.Lys45Asn) | |
| 5 | g.70938892A>G | CA444964017 | SMN1 | c.135A>G (p.Lys45=) | |
| 5 | g.70938892A>T | CA360092144 | SMN1 | c.135A>T (p.Lys45Asn) | |
| 5 | g.70938893G>A | CA360092146 | SMN1 | c.136G>A (p.Ala46Thr) | |
| 5 | g.70938893G>C | CA360092148 | SMN1 | c.136G>C (p.Ala46Pro) | |
| 5 | g.70938893G>T | CA360092150 | SMN1 | c.136G>T (p.Ala46Ser) | |
| 5 | g.70938894C>A | CA360092157 | SMN1 | c.137C>A (p.Ala46Asp) | |
| 5 | g.70938894C>G | CA360092155 | SMN1 | c.137C>G (p.Ala46Gly) | |
| 5 | g.70938894C>T | CA360092153 | SMN1 | c.137C>T (p.Ala46Val) | |
| 5 | g.70938895T>A | CA444964035 | SMN1 | c.138T>A (p.Ala46=) | |
| 5 | g.70938895T>C | CA444964032 | SMN1 | c.138T>C (p.Ala46=) | |
| 5 | g.70938895T>G | CA444964031 | SMN1 | c.138T>G (p.Ala46=) | |
| 5 | g.70938896G>A | CA360092158 | SMN1 | c.139G>A (p.Val47Met) | |
| 5 | g.70938896G>C | CA360092159 | SMN1 | c.139G>C (p.Val47Leu) | |
| 5 | g.70938896G>T | CA360092161 | SMN1 | c.139G>T (p.Val47Leu) | |
| 5 | g.70938897T>A | CA360092164 | SMN1 | c.140T>A (p.Val47Glu) | |
| 5 | g.70938897T>C | CA360092165 | SMN1 | c.140T>C (p.Val47Ala) | |
| 5 | g.70938897T>G | CA360092167 | SMN1 | c.140T>G (p.Val47Gly) | |
| 5 | g.70938898G>A | CA444964049 | SMN1 | c.141G>A (p.Val47=) | |
| 5 | g.70938898G>C | CA444964050 | SMN1 | c.141G>C (p.Val47=) | |
| 5 | g.70938898G>T | CA444964053 | SMN1 | c.141G>T (p.Val47=) | |
| 5 | g.70938899G>A | CA360092170 | SMN1 | c.142G>A (p.Ala48Thr) | |
| 5 | g.70938899G>C | CA360092171 | SMN1 | c.142G>C (p.Ala48Pro) | |
| 5 | g.70938899G>T | CA360092173 | SMN1 | c.142G>T (p.Ala48Ser) | |
| 5 | g.70938900C>A | CA360092175 | SMN1 | c.143C>A (p.Ala48Asp) | |
| 5 | g.70938900C>G | CA360092178 | SMN1 | c.143C>G (p.Ala48Gly) | |
| 5 | g.70938900C>T | CA360092181 | SMN1 | c.143C>T (p.Ala48Val) | |
| 5 | g.70938901T>A | CA444964070 | SMN1 | c.144T>A (p.Ala48=) | |
| 5 | g.70938901T>C | CA444964075 | SMN1 | c.144T>C (p.Ala48=) | |
| 5 | g.70938901T>G | CA444964073 | SMN1 | c.144T>G (p.Ala48=) | |
| 5 | g.70938902T>A | CA360092191 | SMN1 | c.145T>A (p.Ser49Thr) | |
| 5 | g.70938902T>C | CA360092189 | SMN1 | c.145T>C (p.Ser49Pro) | |
| 5 | g.70938902T>G | CA360092186 | SMN1 | c.145T>G (p.Ser49Ala) | |
| 5 | g.70938903C>A | CA360092194 | SMN1 | c.146C>A (p.Ser49Ter) | |
| 5 | g.70938903C>G | CA360092197 | SMN1 | c.146C>G (p.Ser49Ter) | |
| 5 | g.70938903C>T | CA360092200 | SMN1 | c.146C>T (p.Ser49Leu) | |
| 5 | g.70938904A>C | CA444964103 | SMN1 | c.147A>C (p.Ser49=) | |
| 5 | g.70938904A>G | CA444964106 | SMN1 | c.147A>G (p.Ser49=) | |
| 5 | g.70938904A>T | CA444964109 | SMN1 | c.147A>T (p.Ser49=) | |
| 5 | g.70938905T>A | CA360092203 | SMN1 | c.148T>A (p.Phe50Ile) | |
| 5 | g.70938905T>C | CA360092206 | SMN1 | c.148T>C (p.Phe50Leu) | |
| 5 | g.70938905T>G | CA360092209 | SMN1 | c.148T>G (p.Phe50Val) | |
| 5 | g.70938906T>A | CA360092218 | SMN1 | c.149T>A (p.Phe50Tyr) | |
| 5 | g.70938906T>C | CA360092213 | SMN1 | c.149T>C (p.Phe50Ser) | |
| 5 | g.70938906T>G | CA360092216 | SMN1 | c.149T>G (p.Phe50Cys) | |
| 5 | g.70938907T>A | CA360092221 | SMN1 | c.150T>A (p.Phe50Leu) | |
| 5 | g.70938907T>C | CA444964129 | SMN1 | c.150T>C (p.Phe50=) | |
| 5 | g.70938907T>G | CA360092224 | SMN1 | c.150T>G (p.Phe50Leu) | |
| 5 | g.70938908A>C | CA360092227 | SMN1 | c.151A>C (p.Lys51Gln) | |
| 5 | g.70938908A>G | CA360092229 | SMN1 | c.151A>G (p.Lys51Glu) | |
| 5 | g.70938908A>T | CA360092232 | SMN1 | c.151A>T (p.Lys51Ter) | |
| 5 | g.70938909A>C | CA360092237 | SMN1 | c.152A>C (p.Lys51Thr) | |
| 5 | g.70938909A>G | CA360092245 | SMN1 | c.152A>G (p.Lys51Arg) | |
| 5 | g.70938909A>T | CA360092239 | SMN1 | c.152A>T (p.Lys51Met) | |
| 5 | g.70938910G>A | CA444964151 | SMN1 | c.153G>A (p.Lys51=) | |
| 5 | g.70938910G>C | CA360092248 | SMN1 | c.153G>C (p.Lys51Asn) | |
| 5 | g.70938910G>T | CA360092250 | SMN1 | c.153G>T (p.Lys51Asn) | |
| 5 | g.70938911G>A | CA360092254 | SMN1 | c.153+1G>A (n.153+1G>A) | |
| 5 | g.70938911G>C | CA360092257 | SMN1 | c.153+1G>C (n.153+1G>C) | |
| 5 | g.70938911G>T | CA360092260 | SMN1 | c.153+1G>T (n.153+1G>T) | |
| 5 | g.70938912T>A | CA360092263 | SMN1 | c.153+2T>A (n.153+2T>A) | |
| 5 | g.70938912T>C | CA360092267 | SMN1 | c.153+2T>C (n.153+2T>C) | |
| 5 | g.70938912T>G | CA360092269 | SMN1 | c.153+2T>G (n.153+2T>G) |