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.93103948_93103950del | CA2739278680 | SAMD9 | c.2148_2150del (p.Met717del) | ClinVar |
| 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=) | |
| 7 | g.93103957A>C | CA368192792 | SAMD9 | c.2141T>G (p.Leu714Arg) | gnomAD v4 |
| 7 | g.93103957A>G | CA368192793 | SAMD9 | c.2141T>C (p.Leu714Pro) | ClinVar |
| 7 | g.93103957A>T | CA368192791 | SAMD9 | c.2141T>A (p.Leu714His) | |
| 7 | g.93103957_93103958delinsAG | CA1726201185 | SAMD9 | c.2140_2141delinsCT (p.Leu714=) | |
| 7 | g.93103958del | CA843910987 | SAMD9 | c.2140del (p.Glu715LysfsTer3) | dbSNP |
| 7 | g.93103958G>A | CA368192798 | SAMD9 | c.2140C>T (p.Leu714Phe) | |
| 7 | g.93103958G>C | CA368192800 | SAMD9 | c.2140C>G (p.Leu714Val) | |
| 7 | g.93103958G>T | CA368192804 | SAMD9 | c.2140C>A (p.Leu714Ile) | gnomAD v4 |
| 7 | g.93103959T>A | CA368192808 | SAMD9 | c.2139A>T (p.Arg713Ser) | |
| 7 | g.93103959T>C | CA456626191 | SAMD9 | c.2139A>G (p.Arg713=) | COSMIC |
| 7 | g.93103959T>G | CA368192810 | SAMD9 | c.2139A>C (p.Arg713Ser) | |
| 7 | g.93103960C>A | CA368192823 | SAMD9 | c.2138G>T (p.Arg713Ile) | COSMIC |
| 7 | g.93103960C= | CA1726201192 | SAMD9 | c.2138G= (p.Arg713=) | |
| 7 | g.93103960C>G | CA368192813 | SAMD9 | c.2138G>C (p.Arg713Thr) | |
| 7 | g.93103960C>T | CA368192817 | SAMD9 | c.2138G>A (p.Arg713Lys) | |
| 7 | g.93103961T>A | CA368192825 | SAMD9 | c.2137A>T (p.Arg713Ter) | |
| 7 | g.93103961T>C | CA368192828 | SAMD9 | c.2137A>G (p.Arg713Gly) | |
| 7 | g.93103961T>G | CA456626195 | SAMD9 | c.2137A>C (p.Arg713=) | |
| 7 | g.93103964_93103970dup | CA4342885 | SAMD9 | c.2131_2137dup (p.Arg713IlefsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93103961_93103962insG | CA2776961072 | SAMD9 | c.2136_2137insC (p.Arg713GlnfsTer3) | |
| 7 | g.93103962T>A | CA368192831 | SAMD9 | c.2136A>T (p.Glu712Asp) | |
| 7 | g.93103962T>C | CA456626197 | SAMD9 | c.2136A>G (p.Glu712=) | |
| 7 | g.93103962T>G | CA368192834 | SAMD9 | c.2136A>C (p.Glu712Asp) | |
| 7 | g.93103963T>A | CA368192839 | SAMD9 | c.2135A>T (p.Glu712Val) | |
| 7 | g.93103963T>C | CA368192845 | SAMD9 | c.2135A>G (p.Glu712Gly) | |
| 7 | g.93103963T>G | CA368192842 | SAMD9 | c.2135A>C (p.Glu712Ala) | |
| 7 | g.93103964C>A | CA368192847 | SAMD9 | c.2134G>T (p.Glu712Ter) | COSMIC |
| 7 | g.93103964C>G | CA368192849 | SAMD9 | c.2134G>C (p.Glu712Gln) | |
| 7 | g.93103964C>T | CA368192851 | SAMD9 | c.2134G>A (p.Glu712Lys) | |
| 7 | g.93103965A= | CA1726201199 | SAMD9 | c.2133T= (p.Tyr711=) | |
| 7 | g.93103965A>C | CA368192855 | SAMD9 | c.2133T>G (p.Tyr711Ter) | |
| 7 | g.93103965A>G | CA456626206 | SAMD9 | c.2133T>C (p.Tyr711=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103965A>T | CA368192859 | SAMD9 | c.2133T>A (p.Tyr711Ter) | gnomAD v4 |
| 7 | g.93103966T>A | CA368192864 | SAMD9 | c.2132A>T (p.Tyr711Phe) | |
| 7 | g.93103966T>C | CA368192868 | SAMD9 | c.2132A>G (p.Tyr711Cys) | |
| 7 | g.93103966T>G | CA368192870 | SAMD9 | c.2132A>C (p.Tyr711Ser) | |
| 7 | g.93103967A>C | CA368192878 | SAMD9 | c.2131T>G (p.Tyr711Asp) | |
| 7 | g.93103967A>G | CA368192888 | SAMD9 | c.2131T>C (p.Tyr711His) | |
| 7 | g.93103967A>T | CA368192891 | SAMD9 | c.2131T>A (p.Tyr711Asn) | |
| 7 | g.93103968T>A | CA368192894 | SAMD9 | c.2130A>T (p.Lys710Asn) | |
| 7 | g.93103968T>C | CA456626208 | SAMD9 | c.2130A>G (p.Lys710=) | |
| 7 | g.93103968T>G | CA368192905 | SAMD9 | c.2130A>C (p.Lys710Asn) | |
| 7 | g.93103969T>A | CA368192912 | SAMD9 | c.2129A>T (p.Lys710Ile) | |
| 7 | g.93103969T>C | CA368192910 | SAMD9 | c.2129A>G (p.Lys710Arg) | |
| 7 | g.93103969T>G | CA368192909 | SAMD9 | c.2129A>C (p.Lys710Thr) | |
| 7 | g.93103970T>A | CA368192913 | SAMD9 | c.2128A>T (p.Lys710Ter) | gnomAD v4 |
| 7 | g.93103970T>C | CA368192917 | SAMD9 | c.2128A>G (p.Lys710Glu) | |
| 7 | g.93103970T>G | CA368192920 | SAMD9 | c.2128A>C (p.Lys710Gln) | |
| 7 | g.93103971A>C | CA368192925 | SAMD9 | c.2127T>G (p.Asp709Glu) | |
| 7 | g.93103971A>G | CA456626217 | SAMD9 | c.2127T>C (p.Asp709=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.93103971A>T | CA368192929 | SAMD9 | c.2127T>A (p.Asp709Glu) | |
| 7 | g.93103971_93103989delinsATCCCTTTTGACAAAAGGT | CA1726201206 | SAMD9 | c.2109_2127delinsACCTTTTGTCAAAAGGGAT (p.Ser703=) | |
| 7 | g.93103972T>A | CA368192932 | SAMD9 | c.2126A>T (p.Asp709Val) | gnomAD v4 |
| 7 | g.93103972T>C | CA368192937 | SAMD9 | c.2126A>G (p.Asp709Gly) | dbSNP COSMIC |
| 7 | g.93103972T>G | CA368192940 | SAMD9 | c.2126A>C (p.Asp709Ala) | |
| 7 | g.93103972T= | CA1726201213 | SAMD9 | c.2126A= (p.Asp709=) | |
| 7 | g.93103972_93103989del | CA576706777 | SAMD9 | c.2109_2126del (p.Pro704_Asp709del) | dbSNP gnomAD v2 |
| 7 | g.93103973C>A | CA368192944 | SAMD9 | c.2125G>T (p.Asp709Tyr) | ClinVar gnomAD v4 |
| 7 | g.93103973C= | CA1726201224 | SAMD9 | c.2125G= (p.Asp709=) | |
| 7 | g.93103973C>G | CA368192947 | SAMD9 | c.2125G>C (p.Asp709His) | |
| 7 | g.93103973C>T | CA368192950 | SAMD9 | c.2125G>A (p.Asp709Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.93103974C>A | CA368192954 | SAMD9 | c.2124G>T (p.Arg708Ser) | |
| 7 | g.93103974C= | CA1726201230 | SAMD9 | c.2124G= (p.Arg708=) | |
| 7 | g.93103974C>G | CA368192956 | SAMD9 | c.2124G>C (p.Arg708Ser) | |
| 7 | g.93103974C>T | CA4342886 | SAMD9 | c.2124G>A (p.Arg708=) | dbSNP ExAC |
| 7 | g.93103975C>A | CA368192969 | SAMD9 | c.2123G>T (p.Arg708Met) | |
| 7 | g.93103975C>G | CA368192970 | SAMD9 | c.2123G>C (p.Arg708Thr) | |
| 7 | g.93103975C>T | CA368192965 | SAMD9 | c.2123G>A (p.Arg708Lys) | ClinVar |
| 7 | g.93103976T>A | CA368192973 | SAMD9 | c.2122A>T (p.Arg708Trp) | |
| 7 | g.93103976T>C | CA368192977 | SAMD9 | c.2122A>G (p.Arg708Gly) | COSMIC |
| 7 | g.93103976T>G | CA161992116 | SAMD9 | c.2122A>C (p.Arg708=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103976T= | CA1726201235 | SAMD9 | c.2122A= (p.Arg708=) | |
| 7 | g.93103977T>A | CA368192984 | SAMD9 | c.2121A>T (p.Lys707Asn) | |
| 7 | g.93103977T>C | CA456626224 | SAMD9 | c.2121A>G (p.Lys707=) | |
| 7 | g.93103977T>G | CA4342887 | SAMD9 | c.2121A>C (p.Lys707Asn) | dbSNP ExAC gnomAD v2 |
| 7 | g.93103977T= | CA1726201248 | SAMD9 | c.2121A= (p.Lys707=) | |
| 7 | g.93103978T>A | CA368193002 | SAMD9 | c.2120A>T (p.Lys707Ile) | |
| 7 | g.93103978T>C | CA368193005 | SAMD9 | c.2120A>G (p.Lys707Arg) | |
| 7 | g.93103978T>G | CA368193016 | SAMD9 | c.2120A>C (p.Lys707Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.93103978T= | CA1726201252 | SAMD9 | c.2120A= (p.Lys707=) | |
| 7 | g.93103979T>A | CA368193023 | SAMD9 | c.2119A>T (p.Lys707Ter) | |
| 7 | g.93103979T>C | CA368193025 | SAMD9 | c.2119A>G (p.Lys707Glu) | |
| 7 | g.93103979T>G | CA368193027 | SAMD9 | c.2119A>C (p.Lys707Gln) | |
| 7 | g.93103980G>A | CA4342888 | SAMD9 | c.2118C>T (p.Val706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103980G>C | CA456626227 | SAMD9 | c.2118C>G (p.Val706=) | |
| 7 | g.93103980G= | CA1726201259 | SAMD9 | c.2118C= (p.Val706=) | |
| 7 | g.93103980G>T | CA456626228 | SAMD9 | c.2118C>A (p.Val706=) | gnomAD v4 |
| 7 | g.93103981A>C | CA368193043 | SAMD9 | c.2117T>G (p.Val706Gly) | |
| 7 | g.93103981A>G | CA368193038 | SAMD9 | c.2117T>C (p.Val706Ala) | |
| 7 | g.93103981A>T | CA368193040 | SAMD9 | c.2117T>A (p.Val706Asp) | COSMIC |
| 7 | g.93103982C>A | CA4342889 | SAMD9 | c.2116G>T (p.Val706Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103982C= | CA1726201263 | SAMD9 | c.2116G= (p.Val706=) | |
| 7 | g.93103982C>G | CA368193047 | SAMD9 | c.2116G>C (p.Val706Leu) | |
| 7 | g.93103982C>T | CA368193049 | SAMD9 | c.2116G>A (p.Val706Ile) | |
| 7 | g.93103983A= | CA1726201266 | SAMD9 | c.2115T= (p.Phe705=) | |
| 7 | g.93103983A>C | CA368193053 | SAMD9 | c.2115T>G (p.Phe705Leu) | |
| 7 | g.93103983A>G | CA456626230 | SAMD9 | c.2115T>C (p.Phe705=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93103983A>T | CA368193054 | SAMD9 | c.2115T>A (p.Phe705Leu) | |
| 7 | g.93103984A>C | CA368193056 | SAMD9 | c.2114T>G (p.Phe705Cys) | |
| 7 | g.93103984A>G | CA368193058 | SAMD9 | c.2114T>C (p.Phe705Ser) | COSMIC |
| 7 | g.93103984A>T | CA368193062 | SAMD9 | c.2114T>A (p.Phe705Tyr) | |
| 7 | g.93103985A>C | CA368193070 | SAMD9 | c.2113T>G (p.Phe705Val) | |
| 7 | g.93103985A>G | CA368193071 | SAMD9 | c.2113T>C (p.Phe705Leu) | |
| 7 | g.93103985A>T | CA368193073 | SAMD9 | c.2113T>A (p.Phe705Ile) | |
| 7 | g.93103986A>C | CA456626241 | SAMD9 | c.2112T>G (p.Pro704=) | |
| 7 | g.93103986A>G | CA456626242 | SAMD9 | c.2112T>C (p.Pro704=) | |
| 7 | g.93103986A>T | CA456626243 | SAMD9 | c.2112T>A (p.Pro704=) | |
| 7 | g.93103986_93103987delinsAG | CA1726201270 | SAMD9 | c.2111_2112delinsCT (p.Pro704=) | |
| 7 | g.93103987G>A | CA368193076 | SAMD9 | c.2111C>T (p.Pro704Leu) | COSMIC |
| 7 | g.93103987G>C | CA368193080 | SAMD9 | c.2111C>G (p.Pro704Arg) | |
| 7 | g.93103987G>T | CA368193082 | SAMD9 | c.2111C>A (p.Pro704His) | |
| 7 | g.93103988del | CA4342890 | SAMD9 | c.2111del (p.Pro704LeufsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103988G>A | CA368193088 | SAMD9 | c.2110C>T (p.Pro704Ser) | |
| 7 | g.93103988G>C | CA368193085 | SAMD9 | c.2110C>G (p.Pro704Ala) | |
| 7 | g.93103988G>T | CA368193090 | SAMD9 | c.2110C>A (p.Pro704Thr) | |
| 7 | g.93103989T>A | CA456626246 | SAMD9 | c.2109A>T (p.Ser703=) | |
| 7 | g.93103989T>C | CA456626245 | SAMD9 | c.2109A>G (p.Ser703=) | |
| 7 | g.93103989T>G | CA456626244 | SAMD9 | c.2109A>C (p.Ser703=) | gnomAD v4 |
| 7 | g.93103990G>A | CA368193093 | SAMD9 | c.2108C>T (p.Ser703Leu) | |
| 7 | g.93103990G>C | CA368193098 | SAMD9 | c.2108C>G (p.Ser703Ter) | |
| 7 | g.93103990G>T | CA368193095 | SAMD9 | c.2108C>A (p.Ser703Ter) | |
| 7 | g.93103991A>C | CA368193100 | SAMD9 | c.2107T>G (p.Ser703Ala) | |
| 7 | g.93103991A>G | CA368193110 | SAMD9 | c.2107T>C (p.Ser703Pro) | |
| 7 | g.93103991A>T | CA368193104 | SAMD9 | c.2107T>A (p.Ser703Thr) | |
| 7 | g.93103992A>C | CA456626247 | SAMD9 | c.2106T>G (p.Ser702=) | |
| 7 | g.93103992A>G | CA456626248 | SAMD9 | c.2106T>C (p.Ser702=) | gnomAD v4 |
| 7 | g.93103992A>T | CA456626249 | SAMD9 | c.2106T>A (p.Ser702=) | |
| 7 | g.93103993G>A | CA368193114 | SAMD9 | c.2105C>T (p.Ser702Phe) | gnomAD v4 |
| 7 | g.93103993G>C | CA368193117 | SAMD9 | c.2105C>G (p.Ser702Cys) | dbSNP |
| 7 | g.93103993G>T | CA368193119 | SAMD9 | c.2105C>A (p.Ser702Tyr) | COSMIC |
| 7 | g.93103994A>C | CA368193124 | SAMD9 | c.2104T>G (p.Ser702Ala) | |
| 7 | g.93103994A>G | CA368193129 | SAMD9 | c.2104T>C (p.Ser702Pro) | |
| 7 | g.93103994A>T | CA368193131 | SAMD9 | c.2104T>A (p.Ser702Thr) | |
| 7 | g.93103995A>C | CA368193135 | SAMD9 | c.2103T>G (p.Tyr701Ter) | |
| 7 | g.93103995A>G | CA456626250 | SAMD9 | c.2103T>C (p.Tyr701=) | |
| 7 | g.93103995A>T | CA368193137 | SAMD9 | c.2103T>A (p.Tyr701Ter) | |
| 7 | g.93103996T>A | CA368193141 | SAMD9 | c.2102A>T (p.Tyr701Phe) | |
| 7 | g.93103996T>C | CA368193144 | SAMD9 | c.2102A>G (p.Tyr701Cys) | ClinVar |
| 7 | g.93103996T>G | CA368193149 | SAMD9 | c.2102A>C (p.Tyr701Ser) | |
| 7 | g.93103997A>C | CA368193155 | SAMD9 | c.2101T>G (p.Tyr701Asp) | |
| 7 | g.93103997A>G | CA368193151 | SAMD9 | c.2101T>C (p.Tyr701His) | |
| 7 | g.93103997A>T | CA368193153 | SAMD9 | c.2101T>A (p.Tyr701Asn) | |
| 7 | g.93103998A>C | CA368193168 | SAMD9 | c.2100T>G (p.Ser700Arg) | |
| 7 | g.93103998A>G | CA456626251 | SAMD9 | c.2100T>C (p.Ser700=) | gnomAD v4 |
| 7 | g.93103998A>T | CA368193172 | SAMD9 | c.2100T>A (p.Ser700Arg) | |
| 7 | g.93103999C>A | CA368193175 | SAMD9 | c.2099G>T (p.Ser700Ile) | |
| 7 | g.93103999C= | CA1726201277 | SAMD9 | c.2099G= (p.Ser700=) | |
| 7 | g.93103999C>G | CA368193178 | SAMD9 | c.2099G>C (p.Ser700Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93103999C>T | CA368193184 | SAMD9 | c.2099G>A (p.Ser700Asn) | |
| 7 | g.93104000T>A | CA368193187 | SAMD9 | c.2098A>T (p.Ser700Cys) | |
| 7 | g.93104000T>C | CA368193189 | SAMD9 | c.2098A>G (p.Ser700Gly) | |
| 7 | g.93104000T>G | CA368193190 | SAMD9 | c.2098A>C (p.Ser700Arg) | |
| 7 | g.93104001_93104002dup | CA2580077835 | SAMD9 | c.2097_2098dup (p.Ser700LysfsTer19) | ClinVar |
| 7 | g.93104001T>A | CA368193191 | SAMD9 | c.2097A>T (p.Glu699Asp) | |
| 7 | g.93104001T>C | CA456626252 | SAMD9 | c.2097A>G (p.Glu699=) | |
| 7 | g.93104001T>G | CA368193192 | SAMD9 | c.2097A>C (p.Glu699Asp) | |
| 7 | g.93104002T>A | CA368193197 | SAMD9 | c.2096A>T (p.Glu699Val) | |
| 7 | g.93104002T>C | CA368193199 | SAMD9 | c.2096A>G (p.Glu699Gly) | gnomAD v4 |
| 7 | g.93104002T>G | CA368193194 | SAMD9 | c.2096A>C (p.Glu699Ala) | |
| 7 | g.93104003C>A | CA368193201 | SAMD9 | c.2095G>T (p.Glu699Ter) | |
| 7 | g.93104003C>G | CA368193204 | SAMD9 | c.2095G>C (p.Glu699Gln) | |
| 7 | g.93104003C>T | CA368193207 | SAMD9 | c.2095G>A (p.Glu699Lys) | |
| 7 | g.93104004A= | CA1726201280 | SAMD9 | c.2094T= (p.Ser698=) | |
| 7 | g.93104004A>C | CA456626253 | SAMD9 | c.2094T>G (p.Ser698=) | |
| 7 | g.93104004A>G | CA456626254 | SAMD9 | c.2094T>C (p.Ser698=) | |
| 7 | g.93104004A>T | CA456626255 | SAMD9 | c.2094T>A (p.Ser698=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.93104009_93104013del | CA2578939270 | SAMD9 | c.2090_2094del (p.Ser697Ter) | gnomAD v4 |
| 7 | g.93104005G>A | CA368193211 | SAMD9 | c.2093C>T (p.Ser698Phe) | |
| 7 | g.93104005G>C | CA368193214 | SAMD9 | c.2093C>G (p.Ser698Cys) | |
| 7 | g.93104005G>T | CA368193217 | SAMD9 | c.2093C>A (p.Ser698Tyr) | |
| 7 | g.93104006A>C | CA368193223 | SAMD9 | c.2092T>G (p.Ser698Ala) | |
| 7 | g.93104006A>G | CA368193226 | SAMD9 | c.2092T>C (p.Ser698Pro) | |
| 7 | g.93104006A>T | CA368193230 | SAMD9 | c.2092T>A (p.Ser698Thr) | |
| 7 | g.93104007A= | CA1726201288 | SAMD9 | c.2091T= (p.Ser697=) | |
| 7 | g.93104007A>C | CA456626256 | SAMD9 | c.2091T>G (p.Ser697=) | |
| 7 | g.93104007A>G | CA161992160 | SAMD9 | c.2091T>C (p.Ser697=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93104007A>T | CA456626257 | SAMD9 | c.2091T>A (p.Ser697=) | |
| 7 | g.93104008G>A | CA368193236 | SAMD9 | c.2090C>T (p.Ser697Phe) | |
| 7 | g.93104008G>C | CA368193239 | SAMD9 | c.2090C>G (p.Ser697Cys) | |
| 7 | g.93104008G>T | CA368193241 | SAMD9 | c.2090C>A (p.Ser697Tyr) | |
| 7 | g.93104008_93104014delinsGAGAAGT | CA1726201290 | SAMD9 | c.2084_2090delinsACTTCTC (p.Tyr695=) | |
| 7 | g.93104008_93104009insT | CA2578939271 | SAMD9 | c.2089_2090insA (p.Ser697TyrfsTer3) | |
| 7 | g.93104009A>C | CA368193255 | SAMD9 | c.2089T>G (p.Ser697Ala) | |
| 7 | g.93104009A>G | CA368193245 | SAMD9 | c.2089T>C (p.Ser697Pro) | |
| 7 | g.93104009A>T | CA368193251 | SAMD9 | c.2089T>A (p.Ser697Thr) | |
| 7 | g.93104015_93104020del | CA4342891 | SAMD9 | c.2084_2089del (p.Tyr695_Phe696del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93104010G>A | CA4342892 | SAMD9 | c.2088C>T (p.Phe696=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93104010G>C | CA368193263 | SAMD9 | c.2088C>G (p.Phe696Leu) | gnomAD v4 |
| 7 | g.93104010G= | CA1726201293 | SAMD9 | c.2088C= (p.Phe696=) | |
| 7 | g.93104010G>T | CA368193267 | SAMD9 | c.2088C>A (p.Phe696Leu) | |
| 7 | g.93104011A>C | CA368193272 | SAMD9 | c.2087T>G (p.Phe696Cys) | |
| 7 | g.93104011A>G | CA368193279 | SAMD9 | c.2087T>C (p.Phe696Ser) | |
| 7 | g.93104011A>T | CA368193282 | SAMD9 | c.2087T>A (p.Phe696Tyr) | |
| 7 | g.93104012A>C | CA368193286 | SAMD9 | c.2086T>G (p.Phe696Val) | |
| 7 | g.93104012A>G | CA368193288 | SAMD9 | c.2086T>C (p.Phe696Leu) | |
| 7 | g.93104012A>T | CA368193292 | SAMD9 | c.2086T>A (p.Phe696Ile) | |
| 7 | g.93104014_93104016del | CA2578939272 | SAMD9 | c.2084_2086del (p.Tyr695del) | gnomAD v4 |
| 7 | g.93104013G>A | CA456626259 | SAMD9 | c.2085C>T (p.Tyr695=) | dbSNP gnomAD v4 |
| 7 | g.93104013G>C | CA368193295 | SAMD9 | c.2085C>G (p.Tyr695Ter) | |
| 7 | g.93104013G= | CA1726201298 | SAMD9 | c.2085C= (p.Tyr695=) | |
| 7 | g.93104013G>T | CA368193298 | SAMD9 | c.2085C>A (p.Tyr695Ter) | |
| 7 | g.93104013_93104014insACTTC | CA1726201302 | SAMD9 | c.2084_2085insGAAGT (p.Tyr695Ter) | dbSNP |
| 7 | g.93104014T>A | CA368193306 | SAMD9 | c.2084A>T (p.Tyr695Phe) | |
| 7 | g.93104014T>C | CA368193305 | SAMD9 | c.2084A>G (p.Tyr695Cys) | gnomAD v4 |
| 7 | g.93104014T>G | CA368193302 | SAMD9 | c.2084A>C (p.Tyr695Ser) | |
| 7 | g.93104015A= | CA1726201305 | SAMD9 | c.2083T= (p.Tyr695=) | |
| 7 | g.93104015A>C | CA368193307 | SAMD9 | c.2083T>G (p.Tyr695Asp) | |
| 7 | g.93104015A>G | CA368193310 | SAMD9 | c.2083T>C (p.Tyr695His) | |
| 7 | g.93104015A>T | CA368193308 | SAMD9 | c.2083T>A (p.Tyr695Asn) | |
| 7 | g.93104015_93104016insTC | CA1726201317 | SAMD9 | c.2082_2083insGA (p.Tyr695AspfsTer24) | dbSNP |
| 7 | g.93104016G>A | CA4342893 | SAMD9 | c.2082C>T (p.Phe694=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93104016G>C | CA368193317 | SAMD9 | c.2082C>G (p.Phe694Leu) | |
| 7 | g.93104016G= | CA1726201310 | SAMD9 | c.2082C= (p.Phe694=) | |
| 7 | g.93104016G>T | CA368193320 | SAMD9 | c.2082C>A (p.Phe694Leu) | |
| 7 | g.93104017A>C | CA368193324 | SAMD9 | c.2081T>G (p.Phe694Cys) | |
| 7 | g.93104017A>G | CA368193329 | SAMD9 | c.2081T>C (p.Phe694Ser) | |
| 7 | g.93104017A>T | CA368193334 | SAMD9 | c.2081T>A (p.Phe694Tyr) | |
| 7 | g.93104017_93104018insGGTGGCAA | CA1726201321 | SAMD9 | c.2081_2082insTGCCACCT (p.Tyr695AlafsTer26) | dbSNP |
| 7 | g.93104018A>C | CA368193335 | SAMD9 | c.2080T>G (p.Phe694Val) | gnomAD v4 |
| 7 | g.93104018A>G | CA368193337 | SAMD9 | c.2080T>C (p.Phe694Leu) | |
| 7 | g.93104018A>T | CA368193339 | SAMD9 | c.2080T>A (p.Phe694Ile) | |
| 7 | g.93104019G>A | CA456626263 | SAMD9 | c.2079C>T (p.Asn693=) | |
| 7 | g.93104019G>C | CA368193344 | SAMD9 | c.2079C>G (p.Asn693Lys) | |
| 7 | g.93104019G= | CA1726201324 | SAMD9 | c.2079C= (p.Asn693=) | |
| 7 | g.93104019G>T | CA368193346 | SAMD9 | c.2079C>A (p.Asn693Lys) | dbSNP gnomAD v2 |
| 7 | g.93104020T>A | CA368193352 | SAMD9 | c.2078A>T (p.Asn693Ile) | |
| 7 | g.93104020T>C | CA368193351 | SAMD9 | c.2078A>G (p.Asn693Ser) | |
| 7 | g.93104020T>G | CA368193350 | SAMD9 | c.2078A>C (p.Asn693Thr) | gnomAD v4 |
| 7 | g.93104020T= | CA1726201329 | SAMD9 | c.2078A= (p.Asn693=) | |
| 7 | g.93104020_93104021insG | CA1726201334 | SAMD9 | c.2077_2078insC (p.Asn693ThrfsTer7) | dbSNP |
| 7 | g.93104021T>A | CA368193353 | SAMD9 | c.2077A>T (p.Asn693Tyr) | |
| 7 | g.93104021T>C | CA368193354 | SAMD9 | c.2077A>G (p.Asn693Asp) | |
| 7 | g.93104021T>G | CA368193355 | SAMD9 | c.2077A>C (p.Asn693His) | |
| 7 | g.93104021_93104025delinsTCCAC | CA1726201337 | SAMD9 | c.2073_2077delinsGTGGA (p.Trp691=) | |
| 7 | g.93104022C>A | CA368193358 | SAMD9 | c.2076G>T (p.Trp692Cys) | |
| 7 | g.93104022C>G | CA368193360 | SAMD9 | c.2076G>C (p.Trp692Cys) | |
| 7 | g.93104022C>T | CA368193364 | SAMD9 | c.2076G>A (p.Trp692Ter) | |
| 7 | g.93104023_93104026del | CA1726201341 | SAMD9 | c.2073_2076del (p.Trp691Ter) | dbSNP |
| 7 | g.93104023C>A | CA368193366 | SAMD9 | c.2075G>T (p.Trp692Leu) | |
| 7 | g.93104023C>G | CA368193368 | SAMD9 | c.2075G>C (p.Trp692Ser) | |
| 7 | g.93104023C>T | CA368193370 | SAMD9 | c.2075G>A (p.Trp692Ter) | |
| 7 | g.93104024A= | CA1726201346 | SAMD9 | c.2074T= (p.Trp692=) | |
| 7 | g.93104024A>C | CA368193373 | SAMD9 | c.2074T>G (p.Trp692Gly) | |
| 7 | g.93104024A>G | CA4342894 | SAMD9 | c.2074T>C (p.Trp692Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93104024A>T | CA368193378 | SAMD9 | c.2074T>A (p.Trp692Arg) | |
| 7 | g.93104025C>A | CA368193387 | SAMD9 | c.2073G>T (p.Trp691Cys) | |
| 7 | g.93104025C= | CA1726201350 | SAMD9 | c.2073G= (p.Trp691=) | |
| 7 | g.93104025C>G | CA368193384 | SAMD9 | c.2073G>C (p.Trp691Cys) | |
| 7 | g.93104025C>T | CA4342895 | SAMD9 | c.2073G>A (p.Trp691Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.93104025_93104028delinsCCAT | CA1726201353 | SAMD9 | c.2070_2073delinsATGG (p.Ser690=) | |
| 7 | g.93104026C>A | CA368193389 | SAMD9 | c.2072G>T (p.Trp691Leu) | |
| 7 | g.93104026C>G | CA368193390 | SAMD9 | c.2072G>C (p.Trp691Ser) | |
| 7 | g.93104026C>T | CA368193393 | SAMD9 | c.2072G>A (p.Trp691Ter) | COSMIC |
| 7 | g.93104026_93104028del | CA1726201355 | SAMD9 | c.2070_2072del (p.Trp691del) | ClinVar dbSNP |
| 7 | g.93104027A= | CA1726201359 | SAMD9 | c.2071T= (p.Trp691=) | |
| 7 | g.93104027A>C | CA368193397 | SAMD9 | c.2071T>G (p.Trp691Gly) | COSMIC |
| 7 | g.93104027A>G | CA4342896 | SAMD9 | c.2071T>C (p.Trp691Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93104027A>T | CA368193400 | SAMD9 | c.2071T>A (p.Trp691Arg) | |
| 7 | g.93104028T>A | CA456626266 | SAMD9 | c.2070A>T (p.Ser690=) | |
| 7 | g.93104028T>C | CA456626267 | SAMD9 | c.2070A>G (p.Ser690=) | gnomAD v4 |
| 7 | g.93104028T>G | CA456626268 | SAMD9 | c.2070A>C (p.Ser690=) | |
| 7 | g.93104028T= | CA1726201366 | SAMD9 | c.2070A= (p.Ser690=) | |
| 7 | g.93104029G>A | CA368193403 | SAMD9 | c.2069C>T (p.Ser690Leu) | |
| 7 | g.93104029G>C | CA368193405 | SAMD9 | c.2069C>G (p.Ser690Ter) | |
| 7 | g.93104029G>T | CA368193407 | SAMD9 | c.2069C>A (p.Ser690Ter) | |
| 7 | g.93104029_93104030insGTGG | CA1726201372 | SAMD9 | c.2069_2070insCACC (p.Trp691ThrfsTer10) | dbSNP |
| 7 | g.93104030A= | CA1726201376 | SAMD9 | c.2068T= (p.Ser690=) | |
| 7 | g.93104030A>C | CA368193415 | SAMD9 | c.2068T>G (p.Ser690Ala) | |
| 7 | g.93104030A>G | CA161992196 | SAMD9 | c.2068T>C (p.Ser690Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93104030A>T | CA368193420 | SAMD9 | c.2068T>A (p.Ser690Thr) | |
| 7 | g.93104030_93104031delinsAC | CA1726201377 | SAMD9 | c.2067_2068delinsGT (p.Val689=) | |
| 7 | g.93104031del | CA1726201380 | SAMD9 | c.2067del (p.Ser690HisfsTer28) | dbSNP |
| 7 | g.93104031C>A | CA456626271 | SAMD9 | c.2067G>T (p.Val689=) | |
| 7 | g.93104031C>G | CA456626272 | SAMD9 | c.2067G>C (p.Val689=) | ClinVar |
| 7 | g.93104031C>T | CA456626273 | SAMD9 | c.2067G>A (p.Val689=) | |
| 7 | g.93104032A>C | CA368193425 | SAMD9 | c.2066T>G (p.Val689Gly) | |
| 7 | g.93104032A>G | CA368193423 | SAMD9 | c.2066T>C (p.Val689Ala) | |
| 7 | g.93104032A>T | CA368193422 | SAMD9 | c.2066T>A (p.Val689Glu) | |
| 7 | g.93104033C>A | CA368193428 | SAMD9 | c.2065G>T (p.Val689Leu) | |
| 7 | g.93104033C>G | CA368193429 | SAMD9 | c.2065G>C (p.Val689Leu) | |
| 7 | g.93104033C>T | CA368193434 | SAMD9 | c.2065G>A (p.Val689Met) | gnomAD v4 |
| 7 | g.93104033_93104034delinsCT | CA1726201383 | SAMD9 | c.2064_2065delinsAG (p.Lys688=) | |
| 7 | g.93104034T>A | CA368193438 | SAMD9 | c.2064A>T (p.Lys688Asn) | |
| 7 | g.93104034T>C | CA456626275 | SAMD9 | c.2064A>G (p.Lys688=) | |
| 7 | g.93104034T>G | CA368193440 | SAMD9 | c.2064A>C (p.Lys688Asn) | |
| 7 | g.93104036del | CA161992197 | SAMD9 | c.2064del (p.Val689CysfsTer29) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93104035T>A | CA368193442 | SAMD9 | c.2063A>T (p.Lys688Ile) | |
| 7 | g.93104035T>C | CA368193446 | SAMD9 | c.2063A>G (p.Lys688Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93104035T>G | CA368193448 | SAMD9 | c.2063A>C (p.Lys688Thr) | |
| 7 | g.93104035T= | CA1726201389 | SAMD9 | c.2063A= (p.Lys688=) | |
| 7 | g.93104035_93104037delinsTTG | CA1726201392 | SAMD9 | c.2061_2063delinsCAA (p.Gly687=) | |
| 7 | g.93104036T>A | CA368193451 | SAMD9 | c.2062A>T (p.Lys688Ter) | |
| 7 | g.93104036T>C | CA368193452 | SAMD9 | c.2062A>G (p.Lys688Glu) | ClinVar dbSNP |
| 7 | g.93104036T>G | CA4342897 | SAMD9 | c.2062A>C (p.Lys688Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.93104036T= | CA1726201403 | SAMD9 | c.2062A= (p.Lys688=) | |
| 7 | g.93104036_93104037del | CA1726201401 | SAMD9 | c.2061_2062del (p.Lys688SerfsTer11) | dbSNP |
| 7 | g.93104037G>A | CA456626283 | SAMD9 | c.2061C>T (p.Gly687=) | ClinVar |
| 7 | g.93104037G>C | CA456626284 | SAMD9 | c.2061C>G (p.Gly687=) | |
| 7 | g.93104037G>T | CA456626286 | SAMD9 | c.2061C>A (p.Gly687=) | |
| 7 | g.93104038C>A | CA368193460 | SAMD9 | c.2060G>T (p.Gly687Val) | |
| 7 | g.93104038C= | CA1726201408 | SAMD9 | c.2060G= (p.Gly687=) | |
| 7 | g.93104038C>G | CA368193458 | SAMD9 | c.2060G>C (p.Gly687Ala) | |
| 7 | g.93104038C>T | CA161992224 | SAMD9 | c.2060G>A (p.Gly687Asp) | dbSNP |
| 7 | g.93104039C>A | CA368193461 | SAMD9 | c.2059G>T (p.Gly687Cys) | |
| 7 | g.93104039C= | CA1726201412 | SAMD9 | c.2059G= (p.Gly687=) | |
| 7 | g.93104039C>G | CA368193464 | SAMD9 | c.2059G>C (p.Gly687Arg) | |
| 7 | g.93104039C>T | CA368193463 | SAMD9 | c.2059G>A (p.Gly687Ser) | dbSNP |
| 7 | g.93104040A>C | CA456626289 | SAMD9 | c.2058T>G (p.Gly686=) | |
| 7 | g.93104040A>G | CA456626290 | SAMD9 | c.2058T>C (p.Gly686=) | |
| 7 | g.93104040A>T | CA456626291 | SAMD9 | c.2058T>A (p.Gly686=) | |
| 7 | g.93104041C>A | CA368193467 | SAMD9 | c.2057G>T (p.Gly686Val) | |
| 7 | g.93104041C= | CA1726201414 | SAMD9 | c.2057G= (p.Gly686=) | |
| 7 | g.93104041C>G | CA368193469 | SAMD9 | c.2057G>C (p.Gly686Ala) | |
| 7 | g.93104041C>T | CA368193472 | SAMD9 | c.2057G>A (p.Gly686Asp) | gnomAD v4 |
| 7 | g.93104045_93104060del | CA2683736274 | SAMD9 | c.2042_2057del (p.Glu681ValfsTer?) | gnomAD v4 |
| 7 | g.93104041_93104042insTT | CA1726201417 | SAMD9 | c.2056_2057insAA (p.Gly686GlufsTer?) | dbSNP |
| 7 | g.93104042C>A | CA368193475 | SAMD9 | c.2056G>T (p.Gly686Cys) | |
| 7 | g.93104042C>G | CA368193477 | SAMD9 | c.2056G>C (p.Gly686Arg) | gnomAD v4 |
| 7 | g.93104042C>T | CA368193485 | SAMD9 | c.2056G>A (p.Gly686Ser) | gnomAD v4 |
| 7 | g.93104043T>A | CA456626292 | SAMD9 | c.2055A>T (p.Arg685=) | |
| 7 | g.93104043T>C | CA456626293 | SAMD9 | c.2055A>G (p.Arg685=) | gnomAD v4 |
| 7 | g.93104043T>G | CA456626294 | SAMD9 | c.2055A>C (p.Arg685=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.93104043T= | CA1726201423 | SAMD9 | c.2055A= (p.Arg685=) | |
| 7 | g.93104044C>A | CA368193487 | SAMD9 | c.2054G>T (p.Arg685Leu) | |
| 7 | g.93104044C= | CA1726201426 | SAMD9 | c.2054G= (p.Arg685=) | |
| 7 | g.93104044C>G | CA368193490 | SAMD9 | c.2054G>C (p.Arg685Pro) | |
| 7 | g.93104044C>T | CA16618572 | SAMD9 | c.2054G>A (p.Arg685Gln) | ClinVar dbSNP |
| 7 | g.93104044_93104045insTTCT | CA1726201436 | SAMD9 | c.2053_2054insAGAA (p.Arg685GlnfsTer16) | dbSNP |
| 7 | g.93104045G>A | CA4342898 | SAMD9 | c.2053C>T (p.Arg685Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.93104045G>C | CA368193494 | SAMD9 | c.2053C>G (p.Arg685Gly) | |
| 7 | g.93104045G= | CA1726201439 | SAMD9 | c.2053C= (p.Arg685=) | |
| 7 | g.93104045G>T | CA456626297 | SAMD9 | c.2053C>A (p.Arg685=) | |
| 7 | g.93104046A= | CA1726201445 | SAMD9 | c.2052T= (p.Tyr684=) | |
| 7 | g.93104046A>C | CA368193497 | SAMD9 | c.2052T>G (p.Tyr684Ter) | |
| 7 | g.93104046A>G | CA456626298 | SAMD9 | c.2052T>C (p.Tyr684=) | |
| 7 | g.93104046A>T | CA368193499 | SAMD9 | c.2052T>A (p.Tyr684Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93104046_93104049delinsATAG | CA1726201447 | SAMD9 | c.2049_2052delinsCTAT (p.Phe683=) | |
| 7 | g.93104047T>A | CA368193502 | SAMD9 | c.2051A>T (p.Tyr684Phe) | |
| 7 | g.93104047T>C | CA368193507 | SAMD9 | c.2051A>G (p.Tyr684Cys) | |
| 7 | g.93104047T>G | CA368193505 | SAMD9 | c.2051A>C (p.Tyr684Ser) | |
| 7 | g.93104047_93104049del | CA1726201452 | SAMD9 | c.2049_2051del (p.Tyr684del) | dbSNP |
| 7 | g.93104048A>C | CA368193510 | SAMD9 | c.2050T>G (p.Tyr684Asp) | |
| 7 | g.93104048A>G | CA368193513 | SAMD9 | c.2050T>C (p.Tyr684His) | |
| 7 | g.93104048A>T | CA368193514 | SAMD9 | c.2050T>A (p.Tyr684Asn) | |
| 7 | g.93104050_93104052del | CA2683736275 | SAMD9 | c.2048_2050del (p.Phe683del) | gnomAD v4 |
| 7 | g.93104049G>A | CA456626300 | SAMD9 | c.2049C>T (p.Phe683=) | |
| 7 | g.93104049G>C | CA368193517 | SAMD9 | c.2049C>G (p.Phe683Leu) | |
| 7 | g.93104049G>T | CA368193519 | SAMD9 | c.2049C>A (p.Phe683Leu) | ClinVar |
| 7 | g.93104050A= | CA1726201455 | SAMD9 | c.2048T= (p.Phe683=) | |
| 7 | g.93104050A>C | CA368193522 | SAMD9 | c.2048T>G (p.Phe683Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.93104050A>G | CA368193523 | SAMD9 | c.2048T>C (p.Phe683Ser) | |
| 7 | g.93104050A>T | CA368193526 | SAMD9 | c.2048T>A (p.Phe683Tyr) |