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 |
|---|---|---|---|---|---|
| 7 | g.93103856T>A | CA368191964 | SAMD9 | c.2242A>T (p.Met748Leu) | |
| 7 | g.93103856T>C | CA368191965 | SAMD9 | c.2242A>G (p.Met748Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103856T>G | CA368191962 | SAMD9 | c.2242A>C (p.Met748Leu) | |
| 7 | g.93103856T= | CA1726201014 | SAMD9 | c.2242A= (p.Met748=) | |
| 7 | g.93103857A>C | CA456625955 | SAMD9 | c.2241T>G (p.Ala747=) | |
| 7 | g.93103857A>G | CA456625959 | SAMD9 | c.2241T>C (p.Ala747=) | |
| 7 | g.93103857A>T | CA456625957 | SAMD9 | c.2241T>A (p.Ala747=) | |
| 7 | g.93103858G>A | CA368191967 | SAMD9 | c.2240C>T (p.Ala747Val) | COSMIC |
| 7 | g.93103858G>C | CA368191970 | SAMD9 | c.2240C>G (p.Ala747Gly) | |
| 7 | g.93103858G>T | CA368191972 | SAMD9 | c.2240C>A (p.Ala747Asp) | |
| 7 | g.93103859C>A | CA368191974 | SAMD9 | c.2239G>T (p.Ala747Ser) | |
| 7 | g.93103859C>G | CA368191979 | SAMD9 | c.2239G>C (p.Ala747Pro) | |
| 7 | g.93103859C>T | CA368191982 | SAMD9 | c.2239G>A (p.Ala747Thr) | |
| 7 | g.93103860C>A | CA368191985 | SAMD9 | c.2238G>T (p.Leu746Phe) | |
| 7 | g.93103860C>G | CA368191988 | SAMD9 | c.2238G>C (p.Leu746Phe) | gnomAD v4 |
| 7 | g.93103860C>T | CA456625963 | SAMD9 | c.2238G>A (p.Leu746=) | |
| 7 | g.93103861A>C | CA368191990 | SAMD9 | c.2237T>G (p.Leu746Trp) | |
| 7 | g.93103861A>G | CA368191992 | SAMD9 | c.2237T>C (p.Leu746Ser) | |
| 7 | g.93103861A>T | CA368191995 | SAMD9 | c.2237T>A (p.Leu746Ter) | gnomAD v4 |
| 7 | g.93103862A>C | CA368192002 | SAMD9 | c.2236T>G (p.Leu746Val) | |
| 7 | g.93103862A>G | CA456625968 | SAMD9 | c.2236T>C (p.Leu746=) | gnomAD v4 |
| 7 | g.93103862A>T | CA368192003 | SAMD9 | c.2236T>A (p.Leu746Met) | |
| 7 | g.93103863G>A | CA456625969 | SAMD9 | c.2235C>T (p.Thr745=) | ClinVar |
| 7 | g.93103863G>C | CA456625970 | SAMD9 | c.2235C>G (p.Thr745=) | |
| 7 | g.93103863G>T | CA456625971 | SAMD9 | c.2235C>A (p.Thr745=) | |
| 7 | g.93103864G>A | CA368192011 | SAMD9 | c.2234C>T (p.Thr745Ile) | |
| 7 | g.93103864G>C | CA368192010 | SAMD9 | c.2234C>G (p.Thr745Ser) | |
| 7 | g.93103864G>T | CA368192008 | SAMD9 | c.2234C>A (p.Thr745Asn) | |
| 7 | g.93103865T>A | CA368192014 | SAMD9 | c.2233A>T (p.Thr745Ser) | |
| 7 | g.93103865T>C | CA368192016 | SAMD9 | c.2233A>G (p.Thr745Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.93103865T>G | CA368192019 | SAMD9 | c.2233A>C (p.Thr745Pro) | |
| 7 | g.93103865T= | CA1726201020 | SAMD9 | c.2233A= (p.Thr745=) | |
| 7 | g.93103866A>C | CA456625976 | SAMD9 | c.2232T>G (p.Thr744=) | |
| 7 | g.93103866A>G | CA456625977 | SAMD9 | c.2232T>C (p.Thr744=) | |
| 7 | g.93103866A>T | CA456625978 | SAMD9 | c.2232T>A (p.Thr744=) | |
| 7 | g.93103867G>A | CA368192022 | SAMD9 | c.2231C>T (p.Thr744Ile) | |
| 7 | g.93103867G>C | CA368192025 | SAMD9 | c.2231C>G (p.Thr744Ser) | COSMIC |
| 7 | g.93103867G>T | CA368192029 | SAMD9 | c.2231C>A (p.Thr744Asn) | gnomAD v4 |
| 7 | g.93103868T>A | CA368192031 | SAMD9 | c.2230A>T (p.Thr744Ser) | |
| 7 | g.93103868T>C | CA368192034 | SAMD9 | c.2230A>G (p.Thr744Ala) | gnomAD v4 COSMIC |
| 7 | g.93103868T>G | CA368192036 | SAMD9 | c.2230A>C (p.Thr744Pro) | |
| 7 | g.93103869T>A | CA4342869 | SAMD9 | c.2229A>T (p.Gly743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103869T>C | CA456625984 | SAMD9 | c.2229A>G (p.Gly743=) | |
| 7 | g.93103869T>G | CA4342870 | SAMD9 | c.2229A>C (p.Gly743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103869T= | CA1726201028 | SAMD9 | c.2229A= (p.Gly743=) | |
| 7 | g.93103870C>A | CA368192040 | SAMD9 | c.2228G>T (p.Gly743Val) | |
| 7 | g.93103870C= | CA1726201035 | SAMD9 | c.2228G= (p.Gly743=) | |
| 7 | g.93103870C>G | CA368192043 | SAMD9 | c.2228G>C (p.Gly743Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103870C>T | CA368192044 | SAMD9 | c.2228G>A (p.Gly743Glu) | |
| 7 | g.93103874del | CA2683736272 | SAMD9 | c.2228del (p.Gly743GlufsTer12) | gnomAD v4 |
| 7 | g.93103871C>A | CA368192051 | SAMD9 | c.2227G>T (p.Gly743Ter) | |
| 7 | g.93103871C>G | CA368192055 | SAMD9 | c.2227G>C (p.Gly743Arg) | |
| 7 | g.93103871C>T | CA368192049 | SAMD9 | c.2227G>A (p.Gly743Arg) | gnomAD v4 |
| 7 | g.93103872C>A | CA456625988 | SAMD9 | c.2226G>T (p.Gly742=) | gnomAD v4 |
| 7 | g.93103872C>G | CA456625989 | SAMD9 | c.2226G>C (p.Gly742=) | |
| 7 | g.93103872C>T | CA456625990 | SAMD9 | c.2226G>A (p.Gly742=) | |
| 7 | g.93103873C>A | CA368192059 | SAMD9 | c.2225G>T (p.Gly742Val) | |
| 7 | g.93103873C>G | CA368192061 | SAMD9 | c.2225G>C (p.Gly742Ala) | |
| 7 | g.93103873C>T | CA368192063 | SAMD9 | c.2225G>A (p.Gly742Glu) | |
| 7 | g.93103874C>A | CA368192067 | SAMD9 | c.2224G>T (p.Gly742Trp) | |
| 7 | g.93103874C= | CA1726201041 | SAMD9 | c.2224G= (p.Gly742=) | |
| 7 | g.93103874C>G | CA4342871 | SAMD9 | c.2224G>C (p.Gly742Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103874C>T | CA368192070 | SAMD9 | c.2224G>A (p.Gly742Arg) | gnomAD v4 |
| 7 | g.93103874_93103875insCCACCCCCAAACACACCCAAC | CA2776961068 | SAMD9 | c.2224_2225insTTGGGTGTGTTTGGGGGTGGG (p.Cys741_Gly742insValGlyCysValTrpGlyTrp) | |
| 7 | g.93103875A>C | CA368192075 | SAMD9 | c.2223T>G (p.Cys741Trp) | |
| 7 | g.93103875A>G | CA456625995 | SAMD9 | c.2223T>C (p.Cys741=) | gnomAD v4 |
| 7 | g.93103875A>T | CA368192073 | SAMD9 | c.2223T>A (p.Cys741Ter) | |
| 7 | g.93103876C>A | CA368192077 | SAMD9 | c.2222G>T (p.Cys741Phe) | gnomAD v4 |
| 7 | g.93103876C= | CA1726201045 | SAMD9 | c.2222G= (p.Cys741=) | |
| 7 | g.93103876C>G | CA4342872 | SAMD9 | c.2222G>C (p.Cys741Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103876C>T | CA368192081 | SAMD9 | c.2222G>A (p.Cys741Tyr) | |
| 7 | g.93103877A= | CA1726201050 | SAMD9 | c.2221T= (p.Cys741=) | |
| 7 | g.93103877A>C | CA368192090 | SAMD9 | c.2221T>G (p.Cys741Gly) | |
| 7 | g.93103877A>G | CA368192092 | SAMD9 | c.2221T>C (p.Cys741Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103877A>T | CA368192095 | SAMD9 | c.2221T>A (p.Cys741Ser) | |
| 7 | g.93103878G>A | CA456626002 | SAMD9 | c.2220C>T (p.Gly740=) | |
| 7 | g.93103878G>C | CA456626000 | SAMD9 | c.2220C>G (p.Gly740=) | |
| 7 | g.93103878G>T | CA456625998 | SAMD9 | c.2220C>A (p.Gly740=) | |
| 7 | g.93103879C>A | CA368192100 | SAMD9 | c.2219G>T (p.Gly740Val) | gnomAD v4 |
| 7 | g.93103879C>G | CA368192104 | SAMD9 | c.2219G>C (p.Gly740Ala) | |
| 7 | g.93103879C>T | CA368192102 | SAMD9 | c.2219G>A (p.Gly740Asp) | |
| 7 | g.93103880C>A | CA368192109 | SAMD9 | c.2218G>T (p.Gly740Cys) | |
| 7 | g.93103880C= | CA1726201051 | SAMD9 | c.2218G= (p.Gly740=) | |
| 7 | g.93103880C>G | CA368192111 | SAMD9 | c.2218G>C (p.Gly740Arg) | |
| 7 | g.93103880C>T | CA4342873 | SAMD9 | c.2218G>A (p.Gly740Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103881T>A | CA456626007 | SAMD9 | c.2217A>T (p.Pro739=) | |
| 7 | g.93103881T>C | CA456626008 | SAMD9 | c.2217A>G (p.Pro739=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103881T>G | CA456626009 | SAMD9 | c.2217A>C (p.Pro739=) | |
| 7 | g.93103881T= | CA1726201055 | SAMD9 | c.2217A= (p.Pro739=) | |
| 7 | g.93103882G>A | CA368192116 | SAMD9 | c.2216C>T (p.Pro739Leu) | |
| 7 | g.93103882G>C | CA368192119 | SAMD9 | c.2216C>G (p.Pro739Arg) | |
| 7 | g.93103882G>T | CA368192122 | SAMD9 | c.2216C>A (p.Pro739Gln) | |
| 7 | g.93103883G>A | CA368192126 | SAMD9 | c.2215C>T (p.Pro739Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.93103883G>C | CA368192128 | SAMD9 | c.2215C>G (p.Pro739Ala) | |
| 7 | g.93103883G= | CA1726201060 | SAMD9 | c.2215C= (p.Pro739=) | |
| 7 | g.93103883G>T | CA368192129 | SAMD9 | c.2215C>A (p.Pro739Thr) | |
| 7 | g.93103884A>C | CA368192131 | SAMD9 | c.2214T>G (p.His738Gln) | |
| 7 | g.93103884A>G | CA456626013 | SAMD9 | c.2214T>C (p.His738=) | gnomAD v4 |
| 7 | g.93103884A>T | CA368192132 | SAMD9 | c.2214T>A (p.His738Gln) | |
| 7 | g.93103885T>A | CA368192152 | SAMD9 | c.2213A>T (p.His738Leu) | |
| 7 | g.93103885T>C | CA368192135 | SAMD9 | c.2213A>G (p.His738Arg) | |
| 7 | g.93103885T>G | CA368192147 | SAMD9 | c.2213A>C (p.His738Pro) | |
| 7 | g.93103886G>A | CA368192155 | SAMD9 | c.2212C>T (p.His738Tyr) | |
| 7 | g.93103886G>C | CA368192159 | SAMD9 | c.2212C>G (p.His738Asp) | |
| 7 | g.93103886G>T | CA368192157 | SAMD9 | c.2212C>A (p.His738Asn) | gnomAD v4 |
| 7 | g.93103887A>C | CA368192160 | SAMD9 | c.2211T>G (p.His737Gln) | |
| 7 | g.93103887A>G | CA456626019 | SAMD9 | c.2211T>C (p.His737=) | |
| 7 | g.93103887A>T | CA368192161 | SAMD9 | c.2211T>A (p.His737Gln) | |
| 7 | g.93103888T>A | CA368192164 | SAMD9 | c.2210A>T (p.His737Leu) | |
| 7 | g.93103888T>C | CA4342874 | SAMD9 | c.2210A>G (p.His737Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.93103888T>G | CA368192167 | SAMD9 | c.2210A>C (p.His737Pro) | |
| 7 | g.93103888T= | CA1726201071 | SAMD9 | c.2210A= (p.His737=) | |
| 7 | g.93103889G>A | CA368192168 | SAMD9 | c.2209C>T (p.His737Tyr) | COSMIC |
| 7 | g.93103889G>C | CA368192169 | SAMD9 | c.2209C>G (p.His737Asp) | |
| 7 | g.93103889G>T | CA368192170 | SAMD9 | c.2209C>A (p.His737Asn) | ClinVar gnomAD v4 |
| 7 | g.93103890A>C | CA368192174 | SAMD9 | c.2208T>G (p.Tyr736Ter) | |
| 7 | g.93103890A>G | CA456626030 | SAMD9 | c.2208T>C (p.Tyr736=) | ClinVar |
| 7 | g.93103890A>T | CA368192172 | SAMD9 | c.2208T>A (p.Tyr736Ter) | |
| 7 | g.93103891T>A | CA368192177 | SAMD9 | c.2207A>T (p.Tyr736Phe) | |
| 7 | g.93103891T>C | CA368192179 | SAMD9 | c.2207A>G (p.Tyr736Cys) | gnomAD v4 |
| 7 | g.93103891T>G | CA368192185 | SAMD9 | c.2207A>C (p.Tyr736Ser) | |
| 7 | g.93103892A>C | CA368192188 | SAMD9 | c.2206T>G (p.Tyr736Asp) | |
| 7 | g.93103892A>G | CA368192190 | SAMD9 | c.2206T>C (p.Tyr736His) | |
| 7 | g.93103892A>T | CA368192195 | SAMD9 | c.2206T>A (p.Tyr736Asn) | |
| 7 | g.93103893C>A | CA456626035 | SAMD9 | c.2205G>T (p.Leu735=) | |
| 7 | g.93103893C= | CA1726201080 | SAMD9 | c.2205G= (p.Leu735=) | |
| 7 | g.93103893C>G | CA456626036 | SAMD9 | c.2205G>C (p.Leu735=) | |
| 7 | g.93103893C>T | CA456626038 | SAMD9 | c.2205G>A (p.Leu735=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.93103894A= | CA1726201084 | SAMD9 | c.2204T= (p.Leu735=) | |
| 7 | g.93103894A>C | CA368192206 | SAMD9 | c.2204T>G (p.Leu735Arg) | |
| 7 | g.93103894A>G | CA368192198 | SAMD9 | c.2204T>C (p.Leu735Pro) | dbSNP |
| 7 | g.93103894A>T | CA368192203 | SAMD9 | c.2204T>A (p.Leu735Gln) | |
| 7 | g.93103895G>A | CA456626042 | SAMD9 | c.2203C>T (p.Leu735=) | |
| 7 | g.93103895G>C | CA368192208 | SAMD9 | c.2203C>G (p.Leu735Val) | |
| 7 | g.93103895G>T | CA368192210 | SAMD9 | c.2203C>A (p.Leu735Met) | |
| 7 | g.93103896A= | CA1726201089 | SAMD9 | c.2202T= (p.His734=) | |
| 7 | g.93103896A>C | CA368192214 | SAMD9 | c.2202T>G (p.His734Gln) | |
| 7 | g.93103896A>G | CA4342875 | SAMD9 | c.2202T>C (p.His734=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103896A>T | CA161992075 | SAMD9 | c.2202T>A (p.His734Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103897T>A | CA368192217 | SAMD9 | c.2201A>T (p.His734Leu) | |
| 7 | g.93103897T>C | CA368192224 | SAMD9 | c.2201A>G (p.His734Arg) | |
| 7 | g.93103897T>G | CA368192227 | SAMD9 | c.2201A>C (p.His734Pro) | |
| 7 | g.93103898G>A | CA368192233 | SAMD9 | c.2200C>T (p.His734Tyr) | |
| 7 | g.93103898G>C | CA368192235 | SAMD9 | c.2200C>G (p.His734Asp) | |
| 7 | g.93103898G>T | CA368192238 | SAMD9 | c.2200C>A (p.His734Asn) | |
| 7 | g.93103899A= | CA1726201096 | SAMD9 | c.2199T= (p.Ile733=) | |
| 7 | g.93103899A>C | CA368192241 | SAMD9 | c.2199T>G (p.Ile733Met) | |
| 7 | g.93103899A>G | CA456626046 | SAMD9 | c.2199T>C (p.Ile733=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.93103899A>T | CA456626047 | SAMD9 | c.2199T>A (p.Ile733=) | |
| 7 | g.93103900A= | CA1726201099 | SAMD9 | c.2198T= (p.Ile733=) | |
| 7 | g.93103900A>C | CA368192244 | SAMD9 | c.2198T>G (p.Ile733Ser) | |
| 7 | g.93103900A>G | CA4342876 | SAMD9 | c.2198T>C (p.Ile733Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103900A>T | CA368192247 | SAMD9 | c.2198T>A (p.Ile733Asn) | |
| 7 | g.93103901T>A | CA368192253 | SAMD9 | c.2197A>T (p.Ile733Phe) | |
| 7 | g.93103901T>C | CA368192254 | SAMD9 | c.2197A>G (p.Ile733Val) | |
| 7 | g.93103901T>G | CA368192258 | SAMD9 | c.2197A>C (p.Ile733Leu) | |
| 7 | g.93103902A>C | CA368192262 | SAMD9 | c.2196T>G (p.Ile732Met) | |
| 7 | g.93103902A>G | CA456626056 | SAMD9 | c.2196T>C (p.Ile732=) | gnomAD v4 |
| 7 | g.93103902A>T | CA456626057 | SAMD9 | c.2196T>A (p.Ile732=) | |
| 7 | g.93103903A>C | CA368192269 | SAMD9 | c.2195T>G (p.Ile732Ser) | ClinVar |
| 7 | g.93103903A>G | CA368192271 | SAMD9 | c.2195T>C (p.Ile732Thr) | |
| 7 | g.93103903A>T | CA368192277 | SAMD9 | c.2195T>A (p.Ile732Asn) | |
| 7 | g.93103904T>A | CA368192279 | SAMD9 | c.2194A>T (p.Ile732Phe) | |
| 7 | g.93103904T>C | CA368192283 | SAMD9 | c.2194A>G (p.Ile732Val) | |
| 7 | g.93103904T>G | CA368192296 | SAMD9 | c.2194A>C (p.Ile732Leu) | |
| 7 | g.93103905T>A | CA368192299 | SAMD9 | c.2193A>T (p.Lys731Asn) | |
| 7 | g.93103905T>C | CA456626061 | SAMD9 | c.2193A>G (p.Lys731=) | |
| 7 | g.93103905T>G | CA368192302 | SAMD9 | c.2193A>C (p.Lys731Asn) | |
| 7 | g.93103906T>A | CA368192317 | SAMD9 | c.2192A>T (p.Lys731Ile) | |
| 7 | g.93103906T>C | CA368192306 | SAMD9 | c.2192A>G (p.Lys731Arg) | |
| 7 | g.93103906T>G | CA368192316 | SAMD9 | c.2192A>C (p.Lys731Thr) | |
| 7 | g.93103907T>A | CA368192319 | SAMD9 | c.2191A>T (p.Lys731Ter) | |
| 7 | g.93103907T>C | CA368192321 | SAMD9 | c.2191A>G (p.Lys731Glu) | |
| 7 | g.93103907T>G | CA368192326 | SAMD9 | c.2191A>C (p.Lys731Gln) | |
| 7 | g.93103908G>A | CA456626068 | SAMD9 | c.2190C>T (p.Thr730=) | |
| 7 | g.93103908G>C | CA456626070 | SAMD9 | c.2190C>G (p.Thr730=) | |
| 7 | g.93103908G= | CA1726201102 | SAMD9 | c.2190C= (p.Thr730=) | |
| 7 | g.93103908G>T | CA161992085 | SAMD9 | c.2190C>A (p.Thr730=) | dbSNP |
| 7 | g.93103909G>A | CA368192330 | SAMD9 | c.2189C>T (p.Thr730Ile) | gnomAD v4 |
| 7 | g.93103909G>C | CA368192331 | SAMD9 | c.2189C>G (p.Thr730Ser) | |
| 7 | g.93103909G>T | CA368192337 | SAMD9 | c.2189C>A (p.Thr730Asn) | |
| 7 | g.93103910T>A | CA368192340 | SAMD9 | c.2188A>T (p.Thr730Ser) | |
| 7 | g.93103910T>C | CA368192341 | SAMD9 | c.2188A>G (p.Thr730Ala) | |
| 7 | g.93103910T>G | CA368192343 | SAMD9 | c.2188A>C (p.Thr730Pro) | |
| 7 | g.93103911A>C | CA368192348 | SAMD9 | c.2187T>G (p.Ser729Arg) | |
| 7 | g.93103911A>G | CA456626077 | SAMD9 | c.2187T>C (p.Ser729=) | |
| 7 | g.93103911A>T | CA368192350 | SAMD9 | c.2187T>A (p.Ser729Arg) | |
| 7 | g.93103912C>A | CA368192360 | SAMD9 | c.2186G>T (p.Ser729Ile) | |
| 7 | g.93103912C>G | CA368192356 | SAMD9 | c.2186G>C (p.Ser729Thr) | |
| 7 | g.93103912C>T | CA368192354 | SAMD9 | c.2186G>A (p.Ser729Asn) | |
| 7 | g.93103913T>A | CA368192363 | SAMD9 | c.2185A>T (p.Ser729Cys) | |
| 7 | g.93103913T>C | CA368192367 | SAMD9 | c.2185A>G (p.Ser729Gly) | dbSNP |
| 7 | g.93103913T>G | CA368192365 | SAMD9 | c.2185A>C (p.Ser729Arg) | |
| 7 | g.93103913T= | CA1726201107 | SAMD9 | c.2185A= (p.Ser729=) | |
| 7 | g.93103914T>A | CA456626082 | SAMD9 | c.2184A>T (p.Thr728=) | |
| 7 | g.93103914T>C | CA4342877 | SAMD9 | c.2184A>G (p.Thr728=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103914T>G | CA456626083 | SAMD9 | c.2184A>C (p.Thr728=) | |
| 7 | g.93103914T= | CA1726201111 | SAMD9 | c.2184A= (p.Thr728=) | |
| 7 | g.93103915G>A | CA368192376 | SAMD9 | c.2183C>T (p.Thr728Ile) | |
| 7 | g.93103915G>C | CA161992096 | SAMD9 | c.2183C>G (p.Thr728Arg) | dbSNP gnomAD v4 |
| 7 | g.93103915G= | CA1726201115 | SAMD9 | c.2183C= (p.Thr728=) | |
| 7 | g.93103915G>T | CA368192381 | SAMD9 | c.2183C>A (p.Thr728Lys) | gnomAD v4 |
| 7 | g.93103916T>A | CA368192386 | SAMD9 | c.2182A>T (p.Thr728Ser) | |
| 7 | g.93103916T>C | CA368192390 | SAMD9 | c.2182A>G (p.Thr728Ala) | |
| 7 | g.93103916T>G | CA368192392 | SAMD9 | c.2182A>C (p.Thr728Pro) | |
| 7 | g.93103917T>A | CA456626093 | SAMD9 | c.2181A>T (p.Pro727=) | |
| 7 | g.93103917T>C | CA456626095 | SAMD9 | c.2181A>G (p.Pro727=) | |
| 7 | g.93103917T>G | CA456626096 | SAMD9 | c.2181A>C (p.Pro727=) | |
| 7 | g.93103918G>A | CA368192394 | SAMD9 | c.2180C>T (p.Pro727Leu) | |
| 7 | g.93103918G>C | CA368192395 | SAMD9 | c.2180C>G (p.Pro727Arg) | |
| 7 | g.93103918G>T | CA368192397 | SAMD9 | c.2180C>A (p.Pro727Gln) | |
| 7 | g.93103919G>A | CA368192405 | SAMD9 | c.2179C>T (p.Pro727Ser) | |
| 7 | g.93103919G>C | CA368192403 | SAMD9 | c.2179C>G (p.Pro727Ala) | |
| 7 | g.93103919G>T | CA368192402 | SAMD9 | c.2179C>A (p.Pro727Thr) | |
| 7 | g.93103920T>A | CA368192414 | SAMD9 | c.2178A>T (p.Lys726Asn) | |
| 7 | g.93103920T>C | CA456626099 | SAMD9 | c.2178A>G (p.Lys726=) | |
| 7 | g.93103920T>G | CA368192416 | SAMD9 | c.2178A>C (p.Lys726Asn) | |
| 7 | g.93103921T>A | CA368192418 | SAMD9 | c.2177A>T (p.Lys726Ile) | |
| 7 | g.93103921T>C | CA368192421 | SAMD9 | c.2177A>G (p.Lys726Arg) | |
| 7 | g.93103921T>G | CA368192425 | SAMD9 | c.2177A>C (p.Lys726Thr) | |
| 7 | g.93103922T>A | CA368192428 | SAMD9 | c.2176A>T (p.Lys726Ter) | |
| 7 | g.93103922T>C | CA368192430 | SAMD9 | c.2176A>G (p.Lys726Glu) | |
| 7 | g.93103922T>G | CA368192432 | SAMD9 | c.2176A>C (p.Lys726Gln) | |
| 7 | g.93103923A>C | CA456626110 | SAMD9 | c.2175T>G (p.Ser725=) | |
| 7 | g.93103923A>G | CA456626111 | SAMD9 | c.2175T>C (p.Ser725=) | ClinVar |
| 7 | g.93103923A>T | CA456626112 | SAMD9 | c.2175T>A (p.Ser725=) | |
| 7 | g.93103924G>A | CA368192436 | SAMD9 | c.2174C>T (p.Ser725Phe) | dbSNP |
| 7 | g.93103924G>C | CA368192440 | SAMD9 | c.2174C>G (p.Ser725Cys) | |
| 7 | g.93103924G>T | CA368192443 | SAMD9 | c.2174C>A (p.Ser725Tyr) | |
| 7 | g.93103925A>C | CA368192450 | SAMD9 | c.2173T>G (p.Ser725Ala) | |
| 7 | g.93103925A>G | CA368192455 | SAMD9 | c.2173T>C (p.Ser725Pro) | |
| 7 | g.93103925A>T | CA368192447 | SAMD9 | c.2173T>A (p.Ser725Thr) | |
| 7 | g.93103926A>C | CA456626117 | SAMD9 | c.2172T>G (p.Ser724=) | |
| 7 | g.93103926A>G | CA456626115 | SAMD9 | c.2172T>C (p.Ser724=) | |
| 7 | g.93103926A>T | CA456626118 | SAMD9 | c.2172T>A (p.Ser724=) | |
| 7 | g.93103927G>A | CA368192460 | SAMD9 | c.2171C>T (p.Ser724Phe) | |
| 7 | g.93103927G>C | CA368192463 | SAMD9 | c.2171C>G (p.Ser724Cys) | |
| 7 | g.93103927G= | CA1726201123 | SAMD9 | c.2171C= (p.Ser724=) | |
| 7 | g.93103927G>T | CA4342878 | SAMD9 | c.2171C>A (p.Ser724Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.93103928A>C | CA368192467 | SAMD9 | c.2170T>G (p.Ser724Ala) | |
| 7 | g.93103928A>G | CA368192469 | SAMD9 | c.2170T>C (p.Ser724Pro) | |
| 7 | g.93103928A>T | CA368192473 | SAMD9 | c.2170T>A (p.Ser724Thr) | |
| 7 | g.93103929A= | CA1726201128 | SAMD9 | c.2169T= (p.Asp723=) | |
| 7 | g.93103929A>C | CA368192477 | SAMD9 | c.2169T>G (p.Asp723Glu) | |
| 7 | g.93103929A>G | CA456626122 | SAMD9 | c.2169T>C (p.Asp723=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103929A>T | CA368192487 | SAMD9 | c.2169T>A (p.Asp723Glu) | |
| 7 | g.93103930T>A | CA368192491 | SAMD9 | c.2168A>T (p.Asp723Val) | |
| 7 | g.93103930T>C | CA368192495 | SAMD9 | c.2168A>G (p.Asp723Gly) | |
| 7 | g.93103930T>G | CA368192497 | SAMD9 | c.2168A>C (p.Asp723Ala) | |
| 7 | g.93103931C>A | CA368192499 | SAMD9 | c.2167G>T (p.Asp723Tyr) | |
| 7 | g.93103931C= | CA1726201134 | SAMD9 | c.2167G= (p.Asp723=) | |
| 7 | g.93103931C>G | CA368192501 | SAMD9 | c.2167G>C (p.Asp723His) | dbSNP COSMIC |
| 7 | g.93103931C>T | CA368192504 | SAMD9 | c.2167G>A (p.Asp723Asn) | |
| 7 | g.93103932del | CA2683736273 | SAMD9 | c.2166del (p.Asp723IlefsTer?) | gnomAD v4 |
| 7 | g.93103932T>A | CA456626129 | SAMD9 | c.2166A>T (p.Ala722=) | |
| 7 | g.93103932T>C | CA4342879 | SAMD9 | c.2166A>G (p.Ala722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103932T>G | CA456626128 | SAMD9 | c.2166A>C (p.Ala722=) | |
| 7 | g.93103932T= | CA1726201137 | SAMD9 | c.2166A= (p.Ala722=) | |
| 7 | g.93103933G>A | CA368192510 | SAMD9 | c.2165C>T (p.Ala722Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103933G>C | CA368192513 | SAMD9 | c.2165C>G (p.Ala722Gly) | |
| 7 | g.93103933G= | CA1726201139 | SAMD9 | c.2165C= (p.Ala722=) | |
| 7 | g.93103933G>T | CA368192515 | SAMD9 | c.2165C>A (p.Ala722Glu) | |
| 7 | g.93103934C>A | CA368192520 | SAMD9 | c.2164G>T (p.Ala722Ser) | |
| 7 | g.93103934C>G | CA368192529 | SAMD9 | c.2164G>C (p.Ala722Pro) | |
| 7 | g.93103934C>T | CA368192532 | SAMD9 | c.2164G>A (p.Ala722Thr) | |
| 7 | g.93103936_93103937del | CA456626131 | SAMD9 | c.2163_2164del (p.Ala722ArgfsTer4) | gnomAD v4 |
| 7 | g.93103935A>C | CA368192537 | SAMD9 | c.2163T>G (p.Cys721Trp) | |
| 7 | g.93103935A>G | CA456626134 | SAMD9 | c.2163T>C (p.Cys721=) | gnomAD v4 |
| 7 | g.93103935A>T | CA368192539 | SAMD9 | c.2163T>A (p.Cys721Ter) | |
| 7 | g.93103936C>A | CA368192543 | SAMD9 | c.2162G>T (p.Cys721Phe) | |
| 7 | g.93103936C>G | CA368192547 | SAMD9 | c.2162G>C (p.Cys721Ser) | |
| 7 | g.93103936C>T | CA368192551 | SAMD9 | c.2162G>A (p.Cys721Tyr) | |
| 7 | g.93103937A= | CA1726201142 | SAMD9 | c.2161T= (p.Cys721=) | |
| 7 | g.93103937A>C | CA368192557 | SAMD9 | c.2161T>G (p.Cys721Gly) | |
| 7 | g.93103937A>G | CA4342880 | SAMD9 | c.2161T>C (p.Cys721Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103937A>T | CA368192570 | SAMD9 | c.2161T>A (p.Cys721Ser) | |
| 7 | g.93103938G>A | CA456626140 | SAMD9 | c.2160C>T (p.Asn720=) | |
| 7 | g.93103938G>C | CA368192572 | SAMD9 | c.2160C>G (p.Asn720Lys) | |
| 7 | g.93103938G>T | CA368192571 | SAMD9 | c.2160C>A (p.Asn720Lys) | |
| 7 | g.93103938_93103939delinsGT | CA1726201149 | SAMD9 | c.2159_2160delinsAC (p.Asn720=) | |
| 7 | g.93103939T>A | CA368192575 | SAMD9 | c.2159A>T (p.Asn720Ile) | |
| 7 | g.93103939T>C | CA368192586 | SAMD9 | c.2159A>G (p.Asn720Ser) | gnomAD v4 |
| 7 | g.93103939T>G | CA368192589 | SAMD9 | c.2159A>C (p.Asn720Thr) | |
| 7 | g.93103942del | CA4342881 | SAMD9 | c.2159del (p.Asn720ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103940T>A | CA368192597 | SAMD9 | c.2158A>T (p.Asn720Tyr) | |
| 7 | g.93103940T>C | CA368192600 | SAMD9 | c.2158A>G (p.Asn720Asp) | |
| 7 | g.93103940T>G | CA368192603 | SAMD9 | c.2158A>C (p.Asn720His) | |
| 7 | g.93103941T>A | CA368192608 | SAMD9 | c.2157A>T (p.Gln719His) | |
| 7 | g.93103941T>C | CA456626146 | SAMD9 | c.2157A>G (p.Gln719=) | gnomAD v4 |
| 7 | g.93103941T>G | CA368192610 | SAMD9 | c.2157A>C (p.Gln719His) | |
| 7 | g.93103942T>A | CA368192632 | SAMD9 | c.2156A>T (p.Gln719Leu) | |
| 7 | g.93103942T>C | CA368192615 | SAMD9 | c.2156A>G (p.Gln719Arg) | |
| 7 | g.93103942T>G | CA368192625 | SAMD9 | c.2156A>C (p.Gln719Pro) | COSMIC |
| 7 | g.93103943G>A | CA368192634 | SAMD9 | c.2155C>T (p.Gln719Ter) | |
| 7 | g.93103943G>C | CA368192638 | SAMD9 | c.2155C>G (p.Gln719Glu) | |
| 7 | g.93103943G>T | CA368192640 | SAMD9 | c.2155C>A (p.Gln719Lys) | |
| 7 | g.93103944A= | CA1726201152 | SAMD9 | c.2154T= (p.Ile718=) | |
| 7 | g.93103944A>C | CA368192644 | SAMD9 | c.2154T>G (p.Ile718Met) | |
| 7 | g.93103944A>G | CA4342882 | SAMD9 | c.2154T>C (p.Ile718=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103944A>T | CA456626155 | SAMD9 | c.2154T>A (p.Ile718=) | |
| 7 | g.93103945A= | CA1726201156 | SAMD9 | c.2153T= (p.Ile718=) | |
| 7 | g.93103945A>C | CA368192661 | SAMD9 | c.2153T>G (p.Ile718Ser) | |
| 7 | g.93103945A>G | CA368192667 | SAMD9 | c.2153T>C (p.Ile718Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103945A>T | CA368192664 | SAMD9 | c.2153T>A (p.Ile718Asn) | |
| 7 | g.93103946T>A | CA368192669 | SAMD9 | c.2152A>T (p.Ile718Phe) | |
| 7 | g.93103946T>C | CA368192670 | SAMD9 | c.2152A>G (p.Ile718Val) | |
| 7 | g.93103946T>G | CA368192672 | SAMD9 | c.2152A>C (p.Ile718Leu) | |
| 7 | g.93103947C>A | CA368192675 | SAMD9 | c.2151G>T (p.Met717Ile) | |
| 7 | g.93103947C= | CA1726201159 | SAMD9 | c.2151G= (p.Met717=) | |
| 7 | g.93103947C>G | CA368192679 | SAMD9 | c.2151G>C (p.Met717Ile) | |
| 7 | g.93103947C>T | CA4342883 | SAMD9 | c.2151G>A (p.Met717Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.93103948A= | CA1726201162 | SAMD9 | c.2150T= (p.Met717=) | |
| 7 | g.93103948A>C | CA368192687 | SAMD9 | c.2150T>G (p.Met717Arg) | |
| 7 | g.93103948A>G | CA368192690 | SAMD9 | c.2150T>C (p.Met717Thr) | dbSNP gnomAD v4 |
| 7 | g.93103948A>T | CA368192692 | SAMD9 | c.2150T>A (p.Met717Lys) | ClinVar dbSNP |
| 7 | g.93103948_93103950del | CA2739278680 | SAMD9 | c.2148_2150del (p.Met717del) | ClinVar |
| 7 | g.93103949T>A | CA368192698 | SAMD9 | c.2149A>T (p.Met717Leu) | |
| 7 | g.93103949T>C | CA368192701 | SAMD9 | c.2149A>G (p.Met717Val) | dbSNP |
| 7 | g.93103949T>G | CA368192703 | SAMD9 | c.2149A>C (p.Met717Leu) | |
| 7 | g.93103949T= | CA1726201165 | SAMD9 | c.2149A= (p.Met717=) | |
| 7 | g.93103950T>A | CA456626173 | SAMD9 | c.2148A>T (p.Ala716=) | |
| 7 | g.93103950T>C | CA4342884 | SAMD9 | c.2148A>G (p.Ala716=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103950T>G | CA456626171 | SAMD9 | c.2148A>C (p.Ala716=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103950T= | CA1726201166 | SAMD9 | c.2148A= (p.Ala716=) | |
| 7 | g.93103951G>A | CA368192731 | SAMD9 | c.2147C>T (p.Ala716Val) | |
| 7 | g.93103951G>C | CA368192724 | SAMD9 | c.2147C>G (p.Ala716Gly) | gnomAD v4 |
| 7 | g.93103951G= | CA1726201169 | SAMD9 | c.2147C= (p.Ala716=) | |
| 7 | g.93103951G>T | CA368192727 | SAMD9 | c.2147C>A (p.Ala716Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103952C>A | CA368192734 | SAMD9 | c.2146G>T (p.Ala716Ser) | |
| 7 | g.93103952C= | CA1726201171 | SAMD9 | c.2146G= (p.Ala716=) | |
| 7 | g.93103952C>G | CA368192736 | SAMD9 | c.2146G>C (p.Ala716Pro) | |
| 7 | g.93103952C>T | CA368192738 | SAMD9 | c.2146G>A (p.Ala716Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.93103953T>A | CA161992113 | SAMD9 | c.2145A>T (p.Glu715Asp) | dbSNP |
| 7 | g.93103953T>C | CA456626180 | SAMD9 | c.2145A>G (p.Glu715=) | |
| 7 | g.93103953T>G | CA368192744 | SAMD9 | c.2145A>C (p.Glu715Asp) | |
| 7 | g.93103953T= | CA1726201175 | SAMD9 | c.2145A= (p.Glu715=) | |
| 7 | g.93103954T>A | CA368192750 | SAMD9 | c.2144A>T (p.Glu715Val) | |
| 7 | g.93103954T>C | CA368192752 | SAMD9 | c.2144A>G (p.Glu715Gly) | ClinVar |
| 7 | g.93103954T>G | CA368192756 | SAMD9 | c.2144A>C (p.Glu715Ala) | |
| 7 | g.93103955C>A | CA368192776 | SAMD9 | c.2143G>T (p.Glu715Ter) | |
| 7 | g.93103955C>G | CA368192782 | SAMD9 | c.2143G>C (p.Glu715Gln) | |
| 7 | g.93103955C>T | CA368192785 | SAMD9 | c.2143G>A (p.Glu715Lys) | gnomAD v4 |
| 7 | g.93103956A= | CA1726201179 | SAMD9 | c.2142T= (p.Leu714=) | |
| 7 | g.93103956A>C | CA456626184 | SAMD9 | c.2142T>G (p.Leu714=) | |
| 7 | g.93103956A>G | CA456626187 | SAMD9 | c.2142T>C (p.Leu714=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103956A>T | CA456626188 | SAMD9 | c.2142T>A (p.Leu714=) |