Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154904012G>A | CA519356261 | F8 | c.5892C>T (p.Leu1964=) c.5787C>T (p.Leu1929=) | gnomAD v4 |
X | g.154904012G>C | CA519356263 | F8 | c.5892C>G (p.Leu1964=) c.5787C>G (p.Leu1929=) | |
X | g.154904012G>T | CA519356264 | F8 | c.5892C>A (p.Leu1964=) c.5787C>A (p.Leu1929=) | |
X | g.154904013A= | CA2466828168 | F8 | c.5891T= (p.Leu1964=) c.5786T= (p.Leu1929=) | |
X | g.154904013A>C | CA414906182 | F8 | c.5891T>G (p.Leu1964Arg) c.5786T>G (p.Leu1929Arg) | |
X | g.154904013A>G | CA414906184 | F8 | c.5891T>C (p.Leu1964Pro) c.5786T>C (p.Leu1929Pro) | dbSNP |
X | g.154904013A>T | CA414906180 | F8 | c.5891T>A (p.Leu1964His) c.5786T>A (p.Leu1929His) | |
X | g.154904014G>A | CA414906186 | F8 | c.5890C>T (p.Leu1964Phe) c.5785C>T (p.Leu1929Phe) | |
X | g.154904014G>C | CA414906189 | F8 | c.5890C>G (p.Leu1964Val) c.5785C>G (p.Leu1929Val) | gnomAD v4 |
X | g.154904014G>T | CA414906191 | F8 | c.5890C>A (p.Leu1964Ile) c.5785C>A (p.Leu1929Ile) | |
X | g.154904015C>A | CA519717768 | F8 | c.5889G>T (p.Leu1963=) c.5784G>T (p.Leu1928=) | |
X | g.154904015C>G | CA519717776 | F8 | c.5889G>C (p.Leu1963=) c.5784G>C (p.Leu1928=) | |
X | g.154904015C>T | CA519717772 | F8 | c.5889G>A (p.Leu1963=) c.5784G>A (p.Leu1928=) | |
X | g.154904016A>C | CA414906195 | F8 | c.5888T>G (p.Leu1963Arg) c.5783T>G (p.Leu1928Arg) | |
X | g.154904016A>G | CA414906201 | F8 | c.5888T>C (p.Leu1963Pro) c.5783T>C (p.Leu1928Pro) | |
X | g.154904016A>T | CA414906208 | F8 | c.5888T>A (p.Leu1963Gln) c.5783T>A (p.Leu1928Gln) | |
X | g.154904017G>A | CA519717785 | F8 | c.5887C>T (p.Leu1963=) c.5782C>T (p.Leu1928=) | |
X | g.154904017G>C | CA414906210 | F8 | c.5887C>G (p.Leu1963Val) c.5782C>G (p.Leu1928Val) | |
X | g.154904017G>T | CA414906212 | F8 | c.5887C>A (p.Leu1963Met) c.5782C>A (p.Leu1928Met) | |
X | g.154904018A= | CA2466828169 | F8 | c.5886T= (p.Tyr1962=) c.5781T= (p.Tyr1927=) | |
X | g.154904018A>C | CA414906215 | F8 | c.5886T>G (p.Tyr1962Ter) c.5781T>G (p.Tyr1927Ter) | |
X | g.154904018A>G | CA519717793 | F8 | c.5886T>C (p.Tyr1962=) c.5781T>C (p.Tyr1927=) | |
X | g.154904018A>T | CA414906216 | F8 | c.5886T>A (p.Tyr1962Ter) c.5781T>A (p.Tyr1927Ter) | dbSNP |
X | g.154904019T>A | CA414906217 | F8 | c.5885A>T (p.Tyr1962Phe) c.5780A>T (p.Tyr1927Phe) | |
X | g.154904019T>C | CA414906218 | F8 | c.5885A>G (p.Tyr1962Cys) c.5780A>G (p.Tyr1927Cys) | dbSNP |
X | g.154904019T>G | CA414906219 | F8 | c.5885A>C (p.Tyr1962Ser) c.5780A>C (p.Tyr1927Ser) | |
X | g.154904019T= | CA2466828170 | F8 | c.5885A= (p.Tyr1962=) c.5780A= (p.Tyr1927=) | |
X | g.154904020A>C | CA414906230 | F8 | c.5884T>G (p.Tyr1962Asp) c.5779T>G (p.Tyr1927Asp) | |
X | g.154904020A>G | CA414906228 | F8 | c.5884T>C (p.Tyr1962His) c.5779T>C (p.Tyr1927His) | |
X | g.154904020A>T | CA414906226 | F8 | c.5884T>A (p.Tyr1962Asn) c.5779T>A (p.Tyr1927Asn) | |
X | g.154904020_154904021del | CA2695237965 | F8 | c.5883_5884del (p.Trp1961Ter) c.5778_5779del (p.Trp1926Ter) | |
X | g.154904021C>A | CA414906235 | F8 | c.5883G>T (p.Trp1961Cys) c.5778G>T (p.Trp1926Cys) | gnomAD v4 |
X | g.154904021C= | CA2466828171 | F8 | c.5883G= (p.Trp1961=) c.5778G= (p.Trp1926=) | |
X | g.154904021C>G | CA414906239 | F8 | c.5883G>C (p.Trp1961Cys) c.5778G>C (p.Trp1926Cys) | |
X | g.154904021C>T | CA414906237 | F8 | c.5883G>A (p.Trp1961Ter) c.5778G>A (p.Trp1926Ter) | ClinVar dbSNP |
X | g.154904022C>A | CA414906241 | F8 | c.5882G>T (p.Trp1961Leu) c.5777G>T (p.Trp1926Leu) | |
X | g.154904022C= | CA2466828172 | F8 | c.5882G= (p.Trp1961=) c.5777G= (p.Trp1926=) | |
X | g.154904022C>G | CA414906243 | F8 | c.5882G>C (p.Trp1961Ser) c.5777G>C (p.Trp1926Ser) | |
X | g.154904022C>T | CA255186 | F8 | c.5882G>A (p.Trp1961Ter) c.5777G>A (p.Trp1926Ter) | ClinVar dbSNP |
X | g.154904023A= | CA2466828173 | F8 | c.5881T= (p.Trp1961=) c.5776T= (p.Trp1926=) | |
X | g.154904023A>C | CA414906248 | F8 | c.5881T>G (p.Trp1961Gly) c.5776T>G (p.Trp1926Gly) | |
X | g.154904023A>G | CA414906253 | F8 | c.5881T>C (p.Trp1961Arg) c.5776T>C (p.Trp1926Arg) | ClinVar dbSNP |
X | g.154904023A>T | CA414906256 | F8 | c.5881T>A (p.Trp1961Arg) c.5776T>A (p.Trp1926Arg) | dbSNP |
X | g.154904024T>A | CA519717827 | F8 | c.5880A>T (p.Arg1960=) c.5775A>T (p.Arg1925=) | |
X | g.154904024T>C | CA10567926 | F8 | c.5880A>G (p.Arg1960=) c.5775A>G (p.Arg1925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154904024T>G | CA519717831 | F8 | c.5880A>C (p.Arg1960=) c.5775A>C (p.Arg1925=) | |
X | g.154904024T= | CA2466828174 | F8 | c.5880A= (p.Arg1960=) c.5775A= (p.Arg1925=) | |
X | g.154904025C>A | CA255185 | F8 | c.5879G>T (p.Arg1960Leu) c.5774G>T (p.Arg1925Leu) | ClinVar dbSNP |
X | g.154904025C= | CA2466828175 | F8 | c.5879G= (p.Arg1960=) c.5774G= (p.Arg1925=) | |
X | g.154904025C>G | CA414906263 | F8 | c.5879G>C (p.Arg1960Pro) c.5774G>C (p.Arg1925Pro) | |
X | g.154904025C>T | CA255019 | F8 | c.5879G>A (p.Arg1960Gln) c.5774G>A (p.Arg1925Gln) | ClinVar dbSNP |
X | g.154904026G>A | CA255024 | F8 | c.5878C>T (p.Arg1960Ter) c.5773C>T (p.Arg1925Ter) | ClinVar dbSNP |
X | g.154904026G>C | CA414906276 | F8 | c.5878C>G (p.Arg1960Gly) c.5773C>G (p.Arg1925Gly) | |
X | g.154904026G= | CA2466828176 | F8 | c.5878C= (p.Arg1960=) c.5773C= (p.Arg1925=) | |
X | g.154904026G>T | CA10567927 | F8 | c.5878C>A (p.Arg1960=) c.5773C>A (p.Arg1925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154904027A>C | CA414906279 | F8 | c.5877T>G (p.Ile1959Met) c.5772T>G (p.Ile1924Met) | |
X | g.154904027A>G | CA519717843 | F8 | c.5877T>C (p.Ile1959=) c.5772T>C (p.Ile1924=) | |
X | g.154904027A>T | CA519717844 | F8 | c.5877T>A (p.Ile1959=) c.5772T>A (p.Ile1924=) | |
X | g.154904028A>C | CA414906282 | F8 | c.5876T>G (p.Ile1959Ser) c.5771T>G (p.Ile1924Ser) | |
X | g.154904028A>G | CA414906285 | F8 | c.5876T>C (p.Ile1959Thr) c.5771T>C (p.Ile1924Thr) | |
X | g.154904028A>T | CA414906291 | F8 | c.5876T>A (p.Ile1959Asn) c.5771T>A (p.Ile1924Asn) | |
X | g.154904029T>A | CA414906294 | F8 | c.5875A>T (p.Ile1959Phe) c.5770A>T (p.Ile1924Phe) | ClinVar dbSNP |
X | g.154904029T>C | CA414906296 | F8 | c.5875A>G (p.Ile1959Val) c.5770A>G (p.Ile1924Val) | |
X | g.154904029T>G | CA414906304 | F8 | c.5875A>C (p.Ile1959Leu) c.5770A>C (p.Ile1924Leu) | |
X | g.154904029T= | CA2466828177 | F8 | c.5875A= (p.Ile1959=) c.5770A= (p.Ile1924=) | |
X | g.154904029_154904030delinsTC | CA2466828178 | F8 | c.5874_5875delinsGA (p.Arg1958=) c.5769_5770delinsGA (p.Arg1923=) | |
X | g.154904030C>A | CA414906306 | F8 | c.5874G>T (p.Arg1958Ser) c.5769G>T (p.Arg1923Ser) | |
X | g.154904030C>G | CA414906309 | F8 | c.5874G>C (p.Arg1958Ser) c.5769G>C (p.Arg1923Ser) | |
X | g.154904030C>T | CA519717853 | F8 | c.5874G>A (p.Arg1958=) c.5769G>A (p.Arg1923=) | |
X | g.154904031del | CA2466828179 | F8 | c.5874del (p.Ile1959PhefsTer?) c.5769del (p.Ile1924PhefsTer?) | dbSNP |
X | g.154904031C>A | CA414906310 | F8 | c.5873G>T (p.Arg1958Met) c.5768G>T (p.Arg1923Met) | |
X | g.154904031C= | CA2466828180 | F8 | c.5873G= (p.Arg1958=) c.5768G= (p.Arg1923=) | |
X | g.154904031C>G | CA414906313 | F8 | c.5873G>C (p.Arg1958Thr) c.5768G>C (p.Arg1923Thr) | dbSNP |
X | g.154904031C>T | CA414906314 | F8 | c.5873G>A (p.Arg1958Lys) c.5768G>A (p.Arg1923Lys) | |
X | g.154904032T>A | CA414906320 | F8 | c.5872A>T (p.Arg1958Trp) c.5767A>T (p.Arg1923Trp) | |
X | g.154904032T>C | CA414906316 | F8 | c.5872A>G (p.Arg1958Gly) c.5767A>G (p.Arg1923Gly) | |
X | g.154904032T>G | CA519717859 | F8 | c.5872A>C (p.Arg1958=) c.5767A>C (p.Arg1923=) | |
X | g.154904033T>A | CA414906322 | F8 | c.5871A>T (p.Gln1957His) c.5766A>T (p.Gln1922His) | |
X | g.154904033T>C | CA519717862 | F8 | c.5871A>G (p.Gln1957=) c.5766A>G (p.Gln1922=) | |
X | g.154904033T>G | CA414906324 | F8 | c.5871A>C (p.Gln1957His) c.5766A>C (p.Gln1922His) | |
X | g.154904034T>A | CA414906334 | F8 | c.5870A>T (p.Gln1957Leu) c.5765A>T (p.Gln1922Leu) | |
X | g.154904034T>C | CA414906338 | F8 | c.5870A>G (p.Gln1957Arg) c.5765A>G (p.Gln1922Arg) | |
X | g.154904034T>G | CA414906339 | F8 | c.5870A>C (p.Gln1957Pro) c.5765A>C (p.Gln1922Pro) | |
X | g.154904035G>A | CA414906340 | F8 | c.5869C>T (p.Gln1957Ter) c.5764C>T (p.Gln1922Ter) | |
X | g.154904035G>C | CA414906341 | F8 | c.5869C>G (p.Gln1957Glu) c.5764C>G (p.Gln1922Glu) | gnomAD v4 |
X | g.154904035G>T | CA414906342 | F8 | c.5869C>A (p.Gln1957Lys) c.5764C>A (p.Gln1922Lys) | |
X | g.154904036A>C | CA414906344 | F8 | c.5868T>G (p.Asp1956Glu) c.5763T>G (p.Asp1921Glu) | |
X | g.154904036A>G | CA519717872 | F8 | c.5868T>C (p.Asp1956=) c.5763T>C (p.Asp1921=) | |
X | g.154904036A>T | CA414906347 | F8 | c.5868T>A (p.Asp1956Glu) c.5763T>A (p.Asp1921Glu) | |
X | g.154904037T>A | CA414906351 | F8 | c.5867A>T (p.Asp1956Val) c.5762A>T (p.Asp1921Val) | |
X | g.154904037T>C | CA414906352 | F8 | c.5867A>G (p.Asp1956Gly) c.5762A>G (p.Asp1921Gly) | |
X | g.154904037T>G | CA414906353 | F8 | c.5867A>C (p.Asp1956Ala) c.5762A>C (p.Asp1921Ala) | |
X | g.154904037_154904038dup | CA2695237971 | F8 | c.5866_5867dup (p.Asp1956GlufsTer?) c.5761_5762dup (p.Asp1921GlufsTer?) | |
X | g.154904038C>A | CA414906367 | F8 | c.5866G>T (p.Asp1956Tyr) c.5761G>T (p.Asp1921Tyr) | |
X | g.154904038C>G | CA414906355 | F8 | c.5866G>C (p.Asp1956His) c.5761G>C (p.Asp1921His) | gnomAD v4 |
X | g.154904038C>T | CA414906364 | F8 | c.5866G>A (p.Asp1956Asn) c.5761G>A (p.Asp1921Asn) | |
X | g.154904040_154904045del | CA2695237972 | F8 | c.5861_5866del (p.Ala1954_Gln1955del) c.5756_5761del (p.Ala1919_Gln1920del) | |
X | g.154904039C>A | CA414906370 | F8 | c.5865G>T (p.Gln1955His) c.5760G>T (p.Gln1920His) | |
X | g.154904039C>G | CA414906373 | F8 | c.5865G>C (p.Gln1955His) c.5760G>C (p.Gln1920His) | |
X | g.154904039C>T | CA519717884 | F8 | c.5865G>A (p.Gln1955=) c.5760G>A (p.Gln1920=) | |
X | g.154904040T>A | CA414906376 | F8 | c.5864A>T (p.Gln1955Leu) c.5759A>T (p.Gln1920Leu) | |
X | g.154904040T>C | CA414906377 | F8 | c.5864A>G (p.Gln1955Arg) c.5759A>G (p.Gln1920Arg) | |
X | g.154904040T>G | CA414906378 | F8 | c.5864A>C (p.Gln1955Pro) c.5759A>C (p.Gln1920Pro) | gnomAD v4 |
X | g.154904041G>A | CA414906382 | F8 | c.5863C>T (p.Gln1955Ter) c.5758C>T (p.Gln1920Ter) | |
X | g.154904041G>C | CA414906385 | F8 | c.5863C>G (p.Gln1955Glu) c.5758C>G (p.Gln1920Glu) | ClinVar dbSNP gnomAD v4 |
X | g.154904041G>T | CA414906387 | F8 | c.5863C>A (p.Gln1955Lys) c.5758C>A (p.Gln1920Lys) | |
X | g.154904042A>C | CA519717902 | F8 | c.5862T>G (p.Ala1954=) c.5757T>G (p.Ala1919=) | |
X | g.154904042A>G | CA519717904 | F8 | c.5862T>C (p.Ala1954=) c.5757T>C (p.Ala1919=) | |
X | g.154904042A>T | CA519717906 | F8 | c.5862T>A (p.Ala1954=) c.5757T>A (p.Ala1919=) | |
X | g.154904043G>A | CA414906398 | F8 | c.5861C>T (p.Ala1954Val) c.5756C>T (p.Ala1919Val) | |
X | g.154904043G>C | CA414906403 | F8 | c.5861C>G (p.Ala1954Gly) c.5756C>G (p.Ala1919Gly) | |
X | g.154904043G>T | CA414906409 | F8 | c.5861C>A (p.Ala1954Asp) c.5756C>A (p.Ala1919Asp) | |
X | g.154904044C>A | CA414906412 | F8 | c.5860G>T (p.Ala1954Ser) c.5755G>T (p.Ala1919Ser) | |
X | g.154904044C>G | CA414906422 | F8 | c.5860G>C (p.Ala1954Pro) c.5755G>C (p.Ala1919Pro) | |
X | g.154904044C>T | CA414906415 | F8 | c.5860G>A (p.Ala1954Thr) c.5755G>A (p.Ala1919Thr) | |
X | g.154904045C>A | CA414906426 | F8 | c.5859G>T (p.Met1953Ile) c.5754G>T (p.Met1918Ile) | |
X | g.154904045C>G | CA414906440 | F8 | c.5859G>C (p.Met1953Ile) c.5754G>C (p.Met1918Ile) | |
X | g.154904045C>T | CA414906438 | F8 | c.5859G>A (p.Met1953Ile) c.5754G>A (p.Met1918Ile) | gnomAD v4 |
X | g.154904046A= | CA2466828181 | F8 | c.5858T= (p.Met1953=) c.5753T= (p.Met1918=) | |
X | g.154904046A>C | CA414906445 | F8 | c.5858T>G (p.Met1953Arg) c.5753T>G (p.Met1918Arg) | |
X | g.154904046A>G | CA10567928 | F8 | c.5858T>C (p.Met1953Thr) c.5753T>C (p.Met1918Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.154904046A>T | CA414906447 | F8 | c.5858T>A (p.Met1953Lys) c.5753T>A (p.Met1918Lys) | |
X | g.154904047T>A | CA414906450 | F8 | c.5857A>T (p.Met1953Leu) c.5752A>T (p.Met1918Leu) | |
X | g.154904047T>C | CA414906460 | F8 | c.5857A>G (p.Met1953Val) c.5752A>G (p.Met1918Val) | |
X | g.154904047T>G | CA414906461 | F8 | c.5857A>C (p.Met1953Leu) c.5752A>C (p.Met1918Leu) | |
X | g.154904048T>A | CA519717928 | F8 | c.5856A>T (p.Val1952=) c.5751A>T (p.Val1917=) | |
X | g.154904048T>C | CA519717933 | F8 | c.5856A>G (p.Val1952=) c.5751A>G (p.Val1917=) | |
X | g.154904048T>G | CA519717932 | F8 | c.5856A>C (p.Val1952=) c.5751A>C (p.Val1917=) | |
X | g.154904048_154904049dup | CA2695237975 | F8 | c.5855_5856dup (p.Met1953Ter) c.5750_5751dup (p.Met1918Ter) | |
X | g.154904049A= | CA2466828182 | F8 | c.5855T= (p.Val1952=) c.5750T= (p.Val1917=) | |
X | g.154904049A>C | CA414906464 | F8 | c.5855T>G (p.Val1952Gly) c.5750T>G (p.Val1917Gly) | |
X | g.154904049A>G | CA414906467 | F8 | c.5855T>C (p.Val1952Ala) c.5750T>C (p.Val1917Ala) | |
X | g.154904049A>T | CA414906469 | F8 | c.5855T>A (p.Val1952Glu) c.5750T>A (p.Val1917Glu) | ClinVar dbSNP |
X | g.154904050C>A | CA414906480 | F8 | c.5854G>T (p.Val1952Leu) c.5749G>T (p.Val1917Leu) | gnomAD v4 |
X | g.154904050C>G | CA414906479 | F8 | c.5854G>C (p.Val1952Leu) c.5749G>C (p.Val1917Leu) | |
X | g.154904050C>T | CA414906474 | F8 | c.5854G>A (p.Val1952Ile) c.5749G>A (p.Val1917Ile) | |
X | g.154904050dup | CA1139667898 | F8 | c.5854dup (p.Val1952GlyfsTer19) c.5749dup (p.Val1917GlyfsTer19) | |
X | g.154904051T>A | CA414906484 | F8 | c.5853A>T (p.Leu1951Phe) c.5748A>T (p.Leu1916Phe) | ClinVar |
X | g.154904051T>C | CA519717947 | F8 | c.5853A>G (p.Leu1951=) c.5748A>G (p.Leu1916=) | |
X | g.154904051T>G | CA414906485 | F8 | c.5853A>C (p.Leu1951Phe) c.5748A>C (p.Leu1916Phe) | ClinVar |
X | g.154904052A>C | CA414906486 | F8 | c.5852T>G (p.Leu1951Ter) c.5747T>G (p.Leu1916Ter) | |
X | g.154904052A>G | CA414906490 | F8 | c.5852T>C (p.Leu1951Ser) c.5747T>C (p.Leu1916Ser) | |
X | g.154904052A>T | CA414906493 | F8 | c.5852T>A (p.Leu1951Ter) c.5747T>A (p.Leu1916Ter) | |
X | g.154904053A>C | CA414906495 | F8 | c.5851T>G (p.Leu1951Val) c.5746T>G (p.Leu1916Val) | |
X | g.154904053A>G | CA519717955 | F8 | c.5851T>C (p.Leu1951=) c.5746T>C (p.Leu1916=) | ClinVar |
X | g.154904053A>T | CA414906501 | F8 | c.5851T>A (p.Leu1951Ile) c.5746T>A (p.Leu1916Ile) | |
X | g.154904054G>A | CA519717957 | F8 | c.5850C>T (p.Gly1950=) c.5745C>T (p.Gly1915=) | |
X | g.154904054G>C | CA519717958 | F8 | c.5850C>G (p.Gly1950=) c.5745C>G (p.Gly1915=) | |
X | g.154904054G>T | CA519717959 | F8 | c.5850C>A (p.Gly1950=) c.5745C>A (p.Gly1915=) | gnomAD v4 |
X | g.154904055C>A | CA414906505 | F8 | c.5849G>T (p.Gly1950Val) c.5744G>T (p.Gly1915Val) | |
X | g.154904055C>G | CA414906506 | F8 | c.5849G>C (p.Gly1950Ala) c.5744G>C (p.Gly1915Ala) | |
X | g.154904055C>T | CA414906507 | F8 | c.5849G>A (p.Gly1950Asp) c.5744G>A (p.Gly1915Asp) | |
X | g.154904056C>A | CA414906512 | F8 | c.5848G>T (p.Gly1950Cys) c.5743G>T (p.Gly1915Cys) | |
X | g.154904056C>G | CA414906516 | F8 | c.5848G>C (p.Gly1950Arg) c.5743G>C (p.Gly1915Arg) | |
X | g.154904056C>T | CA414906510 | F8 | c.5848G>A (p.Gly1950Ser) c.5743G>A (p.Gly1915Ser) | |
X | g.154904057del | CA2695167990 | F8 | c.5847del (p.Gly1950AlafsTer2) c.5742del (p.Gly1915AlafsTer2) | gnomAD v4 |
X | g.154904057A>C | CA519717978 | F8 | c.5847T>G (p.Pro1949=) c.5742T>G (p.Pro1914=) | |
X | g.154904057A>G | CA519717977 | F8 | c.5847T>C (p.Pro1949=) c.5742T>C (p.Pro1914=) | |
X | g.154904057A>T | CA519717976 | F8 | c.5847T>A (p.Pro1949=) c.5742T>A (p.Pro1914=) | |
X | g.154904058G>A | CA414906527 | F8 | c.5846C>T (p.Pro1949Leu) c.5741C>T (p.Pro1914Leu) | |
X | g.154904058G>C | CA414906536 | F8 | c.5846C>G (p.Pro1949Arg) c.5741C>G (p.Pro1914Arg) | |
X | g.154904058G>T | CA414906538 | F8 | c.5846C>A (p.Pro1949His) c.5741C>A (p.Pro1914His) | |
X | g.154904059G>A | CA414906541 | F8 | c.5845C>T (p.Pro1949Ser) c.5740C>T (p.Pro1914Ser) | |
X | g.154904059G>C | CA414906542 | F8 | c.5845C>G (p.Pro1949Ala) c.5740C>G (p.Pro1914Ala) | |
X | g.154904059G>T | CA414906545 | F8 | c.5845C>A (p.Pro1949Thr) c.5740C>A (p.Pro1914Thr) | |
X | g.154904060T>A | CA519717986 | F8 | c.5844A>T (p.Leu1948=) c.5739A>T (p.Leu1913=) | |
X | g.154904060T>C | CA519717987 | F8 | c.5844A>G (p.Leu1948=) c.5739A>G (p.Leu1913=) | gnomAD v4 COSMIC COSMIC |
X | g.154904060T>G | CA519717988 | F8 | c.5844A>C (p.Leu1948=) c.5739A>C (p.Leu1913=) | |
X | g.154904061A= | CA2466828183 | F8 | c.5843T= (p.Leu1948=) c.5738T= (p.Leu1913=) | |
X | g.154904061A>C | CA414906546 | F8 | c.5843T>G (p.Leu1948Arg) c.5738T>G (p.Leu1913Arg) | ClinVar dbSNP |
X | g.154904061A>G | CA414906548 | F8 | c.5843T>C (p.Leu1948Pro) c.5738T>C (p.Leu1913Pro) | dbSNP |
X | g.154904061A>T | CA414906551 | F8 | c.5843T>A (p.Leu1948Gln) c.5738T>A (p.Leu1913Gln) | |
X | g.154904061dup | CA2695237977 | F8 | c.5843dup (p.Pro1949ThrfsTer22) c.5738dup (p.Pro1914ThrfsTer22) | |
X | g.154904062G>A | CA519717990 | F8 | c.5842C>T (p.Leu1948=) c.5737C>T (p.Leu1913=) | |
X | g.154904062G>C | CA414906554 | F8 | c.5842C>G (p.Leu1948Val) c.5737C>G (p.Leu1913Val) | |
X | g.154904062G>T | CA414906555 | F8 | c.5842C>A (p.Leu1948Ile) c.5737C>A (p.Leu1913Ile) | |
X | g.154904063T>A | CA519717995 | F8 | c.5841A>T (p.Thr1947=) c.5736A>T (p.Thr1912=) | |
X | g.154904063T>C | CA519717997 | F8 | c.5841A>G (p.Thr1947=) c.5736A>G (p.Thr1912=) | gnomAD v4 |
X | g.154904063T>G | CA519717999 | F8 | c.5841A>C (p.Thr1947=) c.5736A>C (p.Thr1912=) | |
X | g.154904067_154904077del | CA2695237978 | F8 | c.5831_5841del (p.Ile1944ThrfsTer23) c.5726_5736del (p.Ile1909ThrfsTer23) | |
X | g.154904064G>A | CA414906560 | F8 | c.5840C>T (p.Thr1947Ile) c.5735C>T (p.Thr1912Ile) | dbSNP gnomAD v4 |
X | g.154904064G>C | CA414906558 | F8 | c.5840C>G (p.Thr1947Arg) c.5735C>G (p.Thr1912Arg) | |
X | g.154904064G= | CA2466828184 | F8 | c.5840C= (p.Thr1947=) c.5735C= (p.Thr1912=) | |
X | g.154904064G>T | CA414906559 | F8 | c.5840C>A (p.Thr1947Lys) c.5735C>A (p.Thr1912Lys) | |
X | g.154904065T>A | CA414906561 | F8 | c.5839A>T (p.Thr1947Ser) c.5734A>T (p.Thr1912Ser) | |
X | g.154904065T>C | CA414906562 | F8 | c.5839A>G (p.Thr1947Ala) c.5734A>G (p.Thr1912Ala) | |
X | g.154904065T>G | CA414906567 | F8 | c.5839A>C (p.Thr1947Pro) c.5734A>C (p.Thr1912Pro) | |
X | g.154904066_154904067dup | CA2695237980 | F8 | c.5838_5839dup (p.Thr1947IlefsTer6) c.5733_5734dup (p.Thr1912IlefsTer6) | |
X | g.154904065_154904080dup | CA2695237979 | F8 | c.5824_5839dup (p.Thr1947ArgfsTer29) c.5719_5734dup (p.Thr1912ArgfsTer29) | |
X | g.154904066A>C | CA414906569 | F8 | c.5838T>G (p.Asp1946Glu) c.5733T>G (p.Asp1911Glu) | |
X | g.154904066A>G | CA519718009 | F8 | c.5838T>C (p.Asp1946=) c.5733T>C (p.Asp1911=) | |
X | g.154904066A>T | CA414906572 | F8 | c.5838T>A (p.Asp1946Glu) c.5733T>A (p.Asp1911Glu) | |
X | g.154904067T>A | CA414906575 | F8 | c.5837A>T (p.Asp1946Val) c.5732A>T (p.Asp1911Val) | |
X | g.154904067T>C | CA414906576 | F8 | c.5837A>G (p.Asp1946Gly) c.5732A>G (p.Asp1911Gly) | |
X | g.154904067T>G | CA414906580 | F8 | c.5837A>C (p.Asp1946Ala) c.5732A>C (p.Asp1911Ala) | |
X | g.154904068C>A | CA414906582 | F8 | c.5836G>T (p.Asp1946Tyr) c.5731G>T (p.Asp1911Tyr) | |
X | g.154904068C= | CA2466828185 | F8 | c.5836G= (p.Asp1946=) c.5731G= (p.Asp1911=) | |
X | g.154904068C>G | CA414906584 | F8 | c.5836G>C (p.Asp1946His) c.5731G>C (p.Asp1911His) | |
X | g.154904068C>T | CA10567929 | F8 | c.5836G>A (p.Asp1946Asn) c.5731G>A (p.Asp1911Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154904069C>A | CA414906593 | F8 | c.5835G>T (p.Met1945Ile) c.5730G>T (p.Met1910Ile) | |
X | g.154904069C= | CA2466828186 | F8 | c.5835G= (p.Met1945=) c.5730G= (p.Met1910=) | |
X | g.154904069C>G | CA414906591 | F8 | c.5835G>C (p.Met1945Ile) c.5730G>C (p.Met1910Ile) | |
X | g.154904069C>T | CA414906589 | F8 | c.5835G>A (p.Met1945Ile) c.5730G>A (p.Met1910Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154904070A>C | CA414906596 | F8 | c.5834T>G (p.Met1945Arg) c.5729T>G (p.Met1910Arg) | |
X | g.154904070A>G | CA414906599 | F8 | c.5834T>C (p.Met1945Thr) c.5729T>C (p.Met1910Thr) | |
X | g.154904070A>T | CA414906598 | F8 | c.5834T>A (p.Met1945Lys) c.5729T>A (p.Met1910Lys) | |
X | g.154904071T>A | CA414906603 | F8 | c.5833A>T (p.Met1945Leu) c.5728A>T (p.Met1910Leu) | |
X | g.154904071T>C | CA414906607 | F8 | c.5833A>G (p.Met1945Val) c.5728A>G (p.Met1910Val) | |
X | g.154904071T>G | CA414906604 | F8 | c.5833A>C (p.Met1945Leu) c.5728A>C (p.Met1910Leu) | |
X | g.154904072T>A | CA519718031 | F8 | c.5832A>T (p.Ile1944=) c.5727A>T (p.Ile1909=) | |
X | g.154904072T>C | CA414906608 | F8 | c.5832A>G (p.Ile1944Met) c.5727A>G (p.Ile1909Met) | gnomAD v4 |
X | g.154904072T>G | CA519718035 | F8 | c.5832A>C (p.Ile1944=) c.5727A>C (p.Ile1909=) | |
X | g.154904073A= | CA2466828187 | F8 | c.5831T= (p.Ile1944=) c.5726T= (p.Ile1909=) | |
X | g.154904073A>C | CA414906610 | F8 | c.5831T>G (p.Ile1944Arg) c.5726T>G (p.Ile1909Arg) | |
X | g.154904073A>G | CA414906609 | F8 | c.5831T>C (p.Ile1944Thr) c.5726T>C (p.Ile1909Thr) | |
X | g.154904073A>T | CA414906611 | F8 | c.5831T>A (p.Ile1944Lys) c.5726T>A (p.Ile1909Lys) | dbSNP gnomAD v4 |
X | g.154904074T>A | CA414906615 | F8 | c.5830A>T (p.Ile1944Leu) c.5725A>T (p.Ile1909Leu) | |
X | g.154904074T>C | CA414906618 | F8 | c.5830A>G (p.Ile1944Val) c.5725A>G (p.Ile1909Val) | |
X | g.154904074T>G | CA414906621 | F8 | c.5830A>C (p.Ile1944Leu) c.5725A>C (p.Ile1909Leu) | |
X | g.154904075G>A | CA10567930 | F8 | c.5829C>T (p.Tyr1943=) c.5724C>T (p.Tyr1908=) | dbSNP ExAC gnomAD v4 |
X | g.154904075G>C | CA414906626 | F8 | c.5829C>G (p.Tyr1943Ter) c.5724C>G (p.Tyr1908Ter) | |
X | g.154904075G= | CA2466828188 | F8 | c.5829C= (p.Tyr1943=) c.5724C= (p.Tyr1908=) | |
X | g.154904075G>T | CA414906629 | F8 | c.5829C>A (p.Tyr1943Ter) c.5724C>A (p.Tyr1908Ter) | dbSNP gnomAD v2 |
X | g.154904076T>A | CA414906633 | F8 | c.5828A>T (p.Tyr1943Phe) c.5723A>T (p.Tyr1908Phe) | |
X | g.154904076T>C | CA414906640 | F8 | c.5828A>G (p.Tyr1943Cys) c.5723A>G (p.Tyr1908Cys) | gnomAD v4 |
X | g.154904076T>G | CA414906645 | F8 | c.5828A>C (p.Tyr1943Ser) c.5723A>C (p.Tyr1908Ser) | |
X | g.154904077del | CA2695237984 | F8 | c.5827del (p.Tyr1943ThrfsTer2) c.5722del (p.Tyr1908ThrfsTer2) | |
X | g.154904077A>C | CA414906656 | F8 | c.5827T>G (p.Tyr1943Asp) c.5722T>G (p.Tyr1908Asp) | |
X | g.154904077A>G | CA414906655 | F8 | c.5827T>C (p.Tyr1943His) c.5722T>C (p.Tyr1908His) | |
X | g.154904077A>T | CA414906652 | F8 | c.5827T>A (p.Tyr1943Asn) c.5722T>A (p.Tyr1908Asn) | |
X | g.154904078G>A | CA519718055 | F8 | c.5826C>T (p.Gly1942=) c.5721C>T (p.Gly1907=) | |
X | g.154904078G>C | CA519718057 | F8 | c.5826C>G (p.Gly1942=) c.5721C>G (p.Gly1907=) | |
X | g.154904078G>T | CA519718056 | F8 | c.5826C>A (p.Gly1942=) c.5721C>A (p.Gly1907=) | |
X | g.154904079C>A | CA414906659 | F8 | c.5825G>T (p.Gly1942Val) c.5720G>T (p.Gly1907Val) | |
X | g.154904079C= | CA2466828189 | F8 | c.5825G= (p.Gly1942=) c.5720G= (p.Gly1907=) | |
X | g.154904079C>G | CA414906661 | F8 | c.5825G>C (p.Gly1942Ala) c.5720G>C (p.Gly1907Ala) | |
X | g.154904079C>T | CA414906664 | F8 | c.5825G>A (p.Gly1942Asp) c.5720G>A (p.Gly1907Asp) | dbSNP |
X | g.154904080C>A | CA414906665 | F8 | c.5824G>T (p.Gly1942Cys) c.5719G>T (p.Gly1907Cys) | |
X | g.154904080C= | CA2466828190 | F8 | c.5824G= (p.Gly1942=) c.5719G= (p.Gly1907=) | |
X | g.154904080C>G | CA414906666 | F8 | c.5824G>C (p.Gly1942Arg) c.5719G>C (p.Gly1907Arg) | |
X | g.154904080C>T | CA414906667 | F8 | c.5824G>A (p.Gly1942Ser) c.5719G>A (p.Gly1907Ser) | dbSNP |
X | g.154904080_154904081delinsCA | CA2466828191 | F8 | c.5823_5824delinsTG (p.Asn1941=) c.5718_5719delinsTG (p.Asn1906=) | |
X | g.154904081del | CA2466828193 | F8 | c.5823del (p.Asn1941LysfsTer4) c.5718del (p.Asn1906LysfsTer4) | dbSNP |
X | g.154904081A= | CA2466828192 | F8 | c.5823T= (p.Asn1941=) c.5718T= (p.Asn1906=) | |
X | g.154904081A>C | CA414906669 | F8 | c.5823T>G (p.Asn1941Lys) c.5718T>G (p.Asn1906Lys) | |
X | g.154904081A>G | CA519718068 | F8 | c.5823T>C (p.Asn1941=) c.5718T>C (p.Asn1906=) | dbSNP |
X | g.154904081A>T | CA414906670 | F8 | c.5823T>A (p.Asn1941Lys) c.5718T>A (p.Asn1906Lys) | dbSNP |
X | g.154904082T>A | CA414906672 | F8 | c.5822A>T (p.Asn1941Ile) c.5717A>T (p.Asn1906Ile) | |
X | g.154904082T>C | CA255184 | F8 | c.5822A>G (p.Asn1941Ser) c.5717A>G (p.Asn1906Ser) | ClinVar dbSNP |
X | g.154904082T>G | CA414906676 | F8 | c.5822A>C (p.Asn1941Thr) c.5717A>C (p.Asn1906Thr) | |
X | g.154904082T= | CA2466828194 | F8 | c.5822A= (p.Asn1941=) c.5717A= (p.Asn1906=) | |
X | g.154904082_154904083del | CA2695237985 | F8 | c.5821_5822del (p.Asn1941TrpfsTer29) c.5716_5717del (p.Asn1906TrpfsTer29) | |
X | g.154904083T>A | CA414906687 | F8 | c.5821A>T (p.Asn1941Tyr) c.5716A>T (p.Asn1906Tyr) | |
X | g.154904083T>C | CA255033 | F8 | c.5821A>G (p.Asn1941Asp) c.5716A>G (p.Asn1906Asp) | ClinVar dbSNP |
X | g.154904083T>G | CA414906679 | F8 | c.5821A>C (p.Asn1941His) c.5716A>C (p.Asn1906His) | |
X | g.154904083T= | CA2466828195 | F8 | c.5821A= (p.Asn1941=) c.5716A= (p.Asn1906=) | |
X | g.154904084G>A | CA519718079 | F8 | c.5820C>T (p.Ile1940=) c.5715C>T (p.Ile1905=) | |
X | g.154904084G>C | CA414906692 | F8 | c.5820C>G (p.Ile1940Met) c.5715C>G (p.Ile1905Met) | |
X | g.154904084G>T | CA519718081 | F8 | c.5820C>A (p.Ile1940=) c.5715C>A (p.Ile1905=) | |
X | g.154904084_154904086delinsATGTG | CA2837994662 | F8 | c.5818_5820delinsCACAT (p.Ile1940HisfsTer6) c.5713_5715delinsCACAT (p.Ile1905HisfsTer6) | |
X | g.154904085A= | CA2466828196 | F8 | c.5819T= (p.Ile1940=) c.5714T= (p.Ile1905=) | |
X | g.154904085A>C | CA414906697 | F8 | c.5819T>G (p.Ile1940Ser) c.5714T>G (p.Ile1905Ser) | |
X | g.154904085A>G | CA414906699 | F8 | c.5819T>C (p.Ile1940Thr) c.5714T>C (p.Ile1905Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154904085A>T | CA414906702 | F8 | c.5819T>A (p.Ile1940Asn) c.5714T>A (p.Ile1905Asn) | |
X | g.154904086T>A | CA414906706 | F8 | c.5818A>T (p.Ile1940Phe) c.5713A>T (p.Ile1905Phe) | |
X | g.154904086T>C | CA414906708 | F8 | c.5818A>G (p.Ile1940Val) c.5713A>G (p.Ile1905Val) | |
X | g.154904086T>G | CA414906712 | F8 | c.5818A>C (p.Ile1940Leu) c.5713A>C (p.Ile1905Leu) | |
X | g.154904087T>A | CA519718086 | F8 | c.5817A>T (p.Ala1939=) c.5712A>T (p.Ala1904=) | |
X | g.154904087T>C | CA519718088 | F8 | c.5817A>G (p.Ala1939=) c.5712A>G (p.Ala1904=) | |
X | g.154904087T>G | CA337318329 | F8 | c.5817A>C (p.Ala1939=) c.5712A>C (p.Ala1904=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154904087T= | CA2466828197 | F8 | c.5817A= (p.Ala1939=) c.5712A= (p.Ala1904=) | |
X | g.154904088G>A | CA414906725 | F8 | c.5816C>T (p.Ala1939Val) c.5711C>T (p.Ala1904Val) | dbSNP |
X | g.154904088G>C | CA414906726 | F8 | c.5816C>G (p.Ala1939Gly) c.5711C>G (p.Ala1904Gly) | |
X | g.154904088G= | CA2466828198 | F8 | c.5816C= (p.Ala1939=) c.5711C= (p.Ala1904=) | |
X | g.154904088G>T | CA414906727 | F8 | c.5816C>A (p.Ala1939Glu) c.5711C>A (p.Ala1904Glu) | ClinVar |
X | g.154904089C>A | CA414906730 | F8 | c.5816-1G>T (n.5816-1G>T) c.5711-1G>T (n.5711-1G>T) | |
X | g.154904089C>G | CA414906728 | F8 | c.5816-1G>C (n.5816-1G>C) c.5711-1G>C (n.5711-1G>C) | |
X | g.154904089C>T | CA414906729 | F8 | c.5816-1G>A (n.5816-1G>A) c.5711-1G>A (n.5711-1G>A) | |
X | g.154904090T>A | CA414906732 | F8 | c.5816-2A>T (n.5816-2A>T) c.5711-2A>T (n.5711-2A>T) | |
X | g.154904090T>C | CA414906735 | F8 | c.5816-2A>G (n.5816-2A>G) c.5711-2A>G (n.5711-2A>G) | ClinVar dbSNP |
X | g.154904090T>G | CA414906751 | F8 | c.5816-2A>C (n.5816-2A>C) c.5711-2A>C (n.5711-2A>C) | |
X | g.154904091G>C | CA873340879 | F8 | c.5816-3C>G (n.5816-3C>G) c.5711-3C>G (n.5711-3C>G) | dbSNP |
X | g.154904091G= | CA2466828199 | F8 | c.5816-3C= (n.5816-3C=) c.5711-3C= (n.5711-3C=) | |
X | g.154904092G>A | CA2466828200 | F8 | c.5816-4C>T (n.5816-4C>T) c.5711-4C>T (n.5711-4C>T) | dbSNP |
X | g.154904092G= | CA2466828201 | F8 | c.5816-4C= (n.5816-4C=) c.5711-4C= (n.5711-4C=) | |
X | g.154904095_154904097del | CA2695167991 | F8 | c.5816-7_5816-5del (n.5816-7_5816-5del) c.5711-7_5711-5del (n.5711-7_5711-5del) | gnomAD v4 |
X | g.154904094G= | CA2466828202 | F8 | c.5816-6C= (n.5816-6C=) c.5711-6C= (n.5711-6C=) | |
X | g.154904096dup | CA2466828203 | F8 | c.5816-7dup (n.5816-7dup) c.5711-7dup (n.5711-7dup) | dbSNP |
X | g.154904098G>A | CA2695167992 | F8 | c.5816-10C>T (n.5816-10C>T) c.5711-10C>T (n.5711-10C>T) | gnomAD v4 |
X | g.154904099A= | CA2466828204 | F8 | c.5816-11T= (n.5816-11T=) c.5711-11T= (n.5711-11T=) | |
X | g.154904099A>T | CA645292711 | F8 | c.5816-11T>A (n.5816-11T>A) c.5711-11T>A (n.5711-11T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154904101A= | CA2466828205 | F8 | c.5816-13T= (n.5816-13T=) c.5711-13T= (n.5711-13T=) | |
X | g.154904101A>G | CA645292712 | F8 | c.5816-13T>C (n.5816-13T>C) c.5711-13T>C (n.5711-13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154904101_154904102delinsTA | CA2695237993 | F8 | c.5816-14_5816-13delinsTA (n.5816-14_5816-13delinsTA) c.5711-14_5711-13delinsTA (n.5711-14_5711-13delinsTA) | |
X | g.154904102C>T | CA2579744514 | F8 | c.5816-14G>A (n.5816-14G>A) c.5711-14G>A (n.5711-14G>A) | |
X | g.154904104G>A | CA873340884 | F8 | c.5816-16C>T (n.5816-16C>T) c.5711-16C>T (n.5711-16C>T) | dbSNP gnomAD v4 |
X | g.154904104G>C | CA10567931 | F8 | c.5816-16C>G (n.5816-16C>G) c.5711-16C>G (n.5711-16C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154904104G= | CA2466828206 | F8 | c.5816-16C= (n.5816-16C=) c.5711-16C= (n.5711-16C=) | |
X | g.154904106G>A | CA10567932 | F8 | c.5816-18C>T (n.5816-18C>T) c.5711-18C>T (n.5711-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154904106G= | CA2466828207 | F8 | c.5816-18C= (n.5816-18C=) c.5711-18C= (n.5711-18C=) | |
X | g.154904109G>A | CA873340887 | F8 | c.5816-21C>T (n.5816-21C>T) c.5711-21C>T (n.5711-21C>T) | dbSNP |
X | g.154904109G= | CA2466828208 | F8 | c.5816-21C= (n.5816-21C=) c.5711-21C= (n.5711-21C=) | |
X | g.154904110C>A | CA873340888 | F8 | c.5816-22G>T (n.5816-22G>T) c.5711-22G>T (n.5711-22G>T) | dbSNP |
X | g.154904110C= | CA2466828209 | F8 | c.5816-22G= (n.5816-22G=) c.5711-22G= (n.5711-22G=) | |
X | g.154904111C>A | CA2695167993 | F8 | c.5816-23G>T (n.5816-23G>T) c.5711-23G>T (n.5711-23G>T) | gnomAD v4 |