Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.125057523C>A | CA4873701 | WASHC5 | c.1875+33G>T (n.1875+33G>T) c.1431+33G>T (n.1431+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057523C= | CA1817263278 | WASHC5 | c.1875+33G= (n.1875+33G=) c.1431+33G= (n.1431+33G=) | |
8 | g.125057523C>G | CA2688510107 | WASHC5 | c.1875+33G>C (n.1875+33G>C) c.1431+33G>C (n.1431+33G>C) | gnomAD v4 |
8 | g.125057523C>T | CA584877127 | WASHC5 | c.1875+33G>A (n.1875+33G>A) c.1431+33G>A (n.1431+33G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057524A= | CA1817263281 | WASHC5 | c.1875+32T= (n.1875+32T=) c.1431+32T= (n.1431+32T=) | |
8 | g.125057524A>G | CA846928455 | WASHC5 | c.1875+32T>C (n.1875+32T>C) c.1431+32T>C (n.1431+32T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057526G>C | CA185305829 | WASHC5 | c.1875+30C>G (n.1875+30C>G) c.1431+30C>G (n.1431+30C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057526G= | CA1817263284 | WASHC5 | c.1875+30C= (n.1875+30C=) c.1431+30C= (n.1431+30C=) | |
8 | g.125057528_125057543del | CA2688510108 | WASHC5 | c.1875+15_1875+30del (n.1875+15_1875+30del) c.1431+15_1431+30del (n.1431+15_1431+30del) | gnomAD v4 |
8 | g.125057527A= | CA1817263287 | WASHC5 | c.1875+29T= (n.1875+29T=) c.1431+29T= (n.1431+29T=) | |
8 | g.125057527A>G | CA4873703 | WASHC5 | c.1875+29T>C (n.1875+29T>C) c.1431+29T>C (n.1431+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057527A>T | CA4873702 | WASHC5 | c.1875+29T>A (n.1875+29T>A) c.1431+29T>A (n.1431+29T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057528G>A | CA2579247171 | WASHC5 | c.1875+28C>T (n.1875+28C>T) c.1431+28C>T (n.1431+28C>T) | gnomAD v4 |
8 | g.125057529T>C | CA2688510109 | WASHC5 | c.1875+27A>G (n.1875+27A>G) c.1431+27A>G (n.1431+27A>G) | gnomAD v4 |
8 | g.125057530A= | CA1817263291 | WASHC5 | c.1875+26T= (n.1875+26T=) c.1431+26T= (n.1431+26T=) | |
8 | g.125057530A>G | CA4873704 | WASHC5 | c.1875+26T>C (n.1875+26T>C) c.1431+26T>C (n.1431+26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057532del | CA2688510110 | WASHC5 | c.1875+26del (n.1875+26del) c.1431+26del (n.1431+26del) | gnomAD v4 |
8 | g.125057532A= | CA1817263293 | WASHC5 | c.1875+24T= (n.1875+24T=) c.1431+24T= (n.1431+24T=) | |
8 | g.125057532A>G | CA4873705 | WASHC5 | c.1875+24T>C (n.1875+24T>C) c.1431+24T>C (n.1431+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057533T>C | CA846928466 | WASHC5 | c.1875+23A>G (n.1875+23A>G) c.1431+23A>G (n.1431+23A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057533T= | CA1817263295 | WASHC5 | c.1875+23A= (n.1875+23A=) c.1431+23A= (n.1431+23A=) | |
8 | g.125057535T>C | CA4873706 | WASHC5 | c.1875+21A>G (n.1875+21A>G) c.1431+21A>G (n.1431+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057535T= | CA1817263297 | WASHC5 | c.1875+21A= (n.1875+21A=) c.1431+21A= (n.1431+21A=) | |
8 | g.125057536C>A | CA2688510111 | WASHC5 | c.1875+20G>T (n.1875+20G>T) c.1431+20G>T (n.1431+20G>T) | gnomAD v4 |
8 | g.125057536C= | CA1817263298 | WASHC5 | c.1875+20G= (n.1875+20G=) c.1431+20G= (n.1431+20G=) | |
8 | g.125057536C>G | CA1817263299 | WASHC5 | c.1875+20G>C (n.1875+20G>C) c.1431+20G>C (n.1431+20G>C) | dbSNP |
8 | g.125057536C>T | CA2579247172 | WASHC5 | c.1875+20G>A (n.1875+20G>A) c.1431+20G>A (n.1431+20G>A) | gnomAD v4 |
8 | g.125057538C>A | CA1118829600 | WASHC5 | c.1875+18G>T (n.1875+18G>T) c.1431+18G>T (n.1431+18G>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057538C= | CA1817263301 | WASHC5 | c.1875+18G= (n.1875+18G=) c.1431+18G= (n.1431+18G=) | |
8 | g.125057538C>T | CA2688510112 | WASHC5 | c.1875+18G>A (n.1875+18G>A) c.1431+18G>A (n.1431+18G>A) | gnomAD v4 |
8 | g.125057539C>T | CA2688510113 | WASHC5 | c.1875+17G>A (n.1875+17G>A) c.1431+17G>A (n.1431+17G>A) | gnomAD v4 |
8 | g.125057540C>G | CA2688510114 | WASHC5 | c.1875+16G>C (n.1875+16G>C) c.1431+16G>C (n.1431+16G>C) | gnomAD v4 |
8 | g.125057541T>C | CA2688510115 | WASHC5 | c.1875+15A>G (n.1875+15A>G) c.1431+15A>G (n.1431+15A>G) | gnomAD v4 |
8 | g.125057542G>A | CA4873707 | WASHC5 | c.1875+14C>T (n.1875+14C>T) c.1431+14C>T (n.1431+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057542G= | CA1817263303 | WASHC5 | c.1875+14C= (n.1875+14C=) c.1431+14C= (n.1431+14C=) | |
8 | g.125057542G>T | CA2579247173 | WASHC5 | c.1875+14C>A (n.1875+14C>A) c.1431+14C>A (n.1431+14C>A) | gnomAD v4 |
8 | g.125057543A>T | CA2688510116 | WASHC5 | c.1875+13T>A (n.1875+13T>A) c.1431+13T>A (n.1431+13T>A) | gnomAD v4 |
8 | g.125057544T>C | CA584877128 | WASHC5 | c.1875+12A>G (n.1875+12A>G) c.1431+12A>G (n.1431+12A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057544T>G | CA2688510117 | WASHC5 | c.1875+12A>C (n.1875+12A>C) c.1431+12A>C (n.1431+12A>C) | gnomAD v4 |
8 | g.125057544T= | CA1817263305 | WASHC5 | c.1875+12A= (n.1875+12A=) c.1431+12A= (n.1431+12A=) | |
8 | g.125057545G>A | CA2688510118 | WASHC5 | c.1875+11C>T (n.1875+11C>T) c.1431+11C>T (n.1431+11C>T) | gnomAD v4 |
8 | g.125057545G>T | CA2579247174 | WASHC5 | c.1875+11C>A (n.1875+11C>A) c.1431+11C>A (n.1431+11C>A) | gnomAD v4 |
8 | g.125057547_125057548delinsAT | CA1817263306 | WASHC5 | c.1875+8_1875+9delinsAT (n.1875+8_1875+9delinsAT) c.1431+8_1431+9delinsAT (n.1431+8_1431+9delinsAT) | |
8 | g.125057548T>C | CA2688510119 | WASHC5 | c.1875+8A>G (n.1875+8A>G) c.1431+8A>G (n.1431+8A>G) | gnomAD v4 |
8 | g.125057550del | CA4873708 | WASHC5 | c.1875+8del (n.1875+8del) c.1431+8del (n.1431+8del) | dbSNP ExAC |
8 | g.125057551C>T | CA2688510120 | WASHC5 | c.1875+5G>A (n.1875+5G>A) c.1431+5G>A (n.1431+5G>A) | gnomAD v4 |
8 | g.125057552T>G | CA1817263310 | WASHC5 | c.1875+4A>C (n.1875+4A>C) c.1431+4A>C (n.1431+4A>C) | dbSNP |
8 | g.125057552T= | CA1817263309 | WASHC5 | c.1875+4A= (n.1875+4A=) c.1431+4A= (n.1431+4A=) | |
8 | g.125057553del | CA2579247175 | WASHC5 | c.1875+4del (n.1875+4del) c.1431+4del (n.1431+4del) | |
8 | g.125057553T>C | CA2688510121 | WASHC5 | c.1875+3A>G (n.1875+3A>G) c.1431+3A>G (n.1431+3A>G) | gnomAD v4 |
8 | g.125057554A>C | CA372191226 | WASHC5 | c.1875+2T>G (n.1875+2T>G) c.1431+2T>G (n.1431+2T>G) | |
8 | g.125057554A>G | CA372191227 | WASHC5 | c.1875+2T>C (n.1875+2T>C) c.1431+2T>C (n.1431+2T>C) | |
8 | g.125057554A>T | CA372191228 | WASHC5 | c.1875+2T>A (n.1875+2T>A) c.1431+2T>A (n.1431+2T>A) | gnomAD v4 |
8 | g.125057555C>A | CA372191229 | WASHC5 | c.1875+1G>T (n.1875+1G>T) c.1431+1G>T (n.1431+1G>T) | |
8 | g.125057555C>G | CA372191230 | WASHC5 | c.1875+1G>C (n.1875+1G>C) c.1431+1G>C (n.1431+1G>C) | |
8 | g.125057555C>T | CA372191231 | WASHC5 | c.1875+1G>A (n.1875+1G>A) c.1431+1G>A (n.1431+1G>A) | gnomAD v4 |
8 | g.125057556T>A | CA372191232 | WASHC5 | c.1875A>T (p.Lys625Asn) c.1431A>T (p.Lys477Asn) | |
8 | g.125057556T>C | CA462769525 | WASHC5 | c.1875A>G (p.Lys625=) c.1431A>G (p.Lys477=) | |
8 | g.125057556T>G | CA372191233 | WASHC5 | c.1875A>C (p.Lys625Asn) c.1431A>C (p.Lys477Asn) | |
8 | g.125057557T>A | CA372191234 | WASHC5 | c.1874A>T (p.Lys625Ile) c.1430A>T (p.Lys477Ile) | |
8 | g.125057557T>C | CA372191235 | WASHC5 | c.1874A>G (p.Lys625Arg) c.1430A>G (p.Lys477Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.125057557T>G | CA372191236 | WASHC5 | c.1874A>C (p.Lys625Thr) c.1430A>C (p.Lys477Thr) | |
8 | g.125057557T= | CA1817263314 | WASHC5 | c.1874A= (p.Lys625=) c.1430A= (p.Lys477=) | |
8 | g.125057558T>A | CA372191237 | WASHC5 | c.1873A>T (p.Lys625Ter) c.1429A>T (p.Lys477Ter) | |
8 | g.125057558T>C | CA372191238 | WASHC5 | c.1873A>G (p.Lys625Glu) c.1429A>G (p.Lys477Glu) | |
8 | g.125057558T>G | CA372191239 | WASHC5 | c.1873A>C (p.Lys625Gln) c.1429A>C (p.Lys477Gln) | |
8 | g.125057559T>A | CA372191240 | WASHC5 | c.1872A>T (p.Arg624Ser) c.1428A>T (p.Arg476Ser) | |
8 | g.125057559T>C | CA462769526 | WASHC5 | c.1872A>G (p.Arg624=) c.1428A>G (p.Arg476=) | |
8 | g.125057559T>G | CA372191241 | WASHC5 | c.1872A>C (p.Arg624Ser) c.1428A>C (p.Arg476Ser) | |
8 | g.125057560C>A | CA372191242 | WASHC5 | c.1871G>T (p.Arg624Ile) c.1427G>T (p.Arg476Ile) | |
8 | g.125057560C>G | CA372191243 | WASHC5 | c.1871G>C (p.Arg624Thr) c.1427G>C (p.Arg476Thr) | |
8 | g.125057560C>T | CA372191244 | WASHC5 | c.1871G>A (p.Arg624Lys) c.1427G>A (p.Arg476Lys) | gnomAD v4 |
8 | g.125057561T>A | CA372191245 | WASHC5 | c.1870A>T (p.Arg624Ter) c.1426A>T (p.Arg476Ter) | |
8 | g.125057561T>C | CA372191246 | WASHC5 | c.1870A>G (p.Arg624Gly) c.1426A>G (p.Arg476Gly) | gnomAD v4 |
8 | g.125057561T>G | CA462769527 | WASHC5 | c.1870A>C (p.Arg624=) c.1426A>C (p.Arg476=) | |
8 | g.125057562C>A | CA462769528 | WASHC5 | c.1869G>T (p.Val623=) c.1425G>T (p.Val475=) | |
8 | g.125057562C>G | CA462769529 | WASHC5 | c.1869G>C (p.Val623=) c.1425G>C (p.Val475=) | |
8 | g.125057562C>T | CA462769530 | WASHC5 | c.1869G>A (p.Val623=) c.1425G>A (p.Val475=) | |
8 | g.125057563A>C | CA372191247 | WASHC5 | c.1868T>G (p.Val623Gly) c.1424T>G (p.Val475Gly) | gnomAD v4 |
8 | g.125057563A>G | CA372191248 | WASHC5 | c.1868T>C (p.Val623Ala) c.1424T>C (p.Val475Ala) | |
8 | g.125057563A>T | CA372191249 | WASHC5 | c.1868T>A (p.Val623Glu) c.1424T>A (p.Val475Glu) | |
8 | g.125057564C>A | CA372191250 | WASHC5 | c.1867G>T (p.Val623Leu) c.1423G>T (p.Val475Leu) | |
8 | g.125057564C= | CA1817263317 | WASHC5 | c.1867G= (p.Val623=) c.1423G= (p.Val475=) | |
8 | g.125057564C>G | CA372191251 | WASHC5 | c.1867G>C (p.Val623Leu) c.1423G>C (p.Val475Leu) | |
8 | g.125057564C>T | CA372191252 | WASHC5 | c.1867G>A (p.Val623Met) c.1423G>A (p.Val475Met) | ClinVar dbSNP |
8 | g.125057565A= | CA1817263323 | WASHC5 | c.1866T= (p.Tyr622=) c.1422T= (p.Tyr474=) | |
8 | g.125057565A>C | CA372191254 | WASHC5 | c.1866T>G (p.Tyr622Ter) c.1422T>G (p.Tyr474Ter) | |
8 | g.125057565A>G | CA4873709 | WASHC5 | c.1866T>C (p.Tyr622=) c.1422T>C (p.Tyr474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057565A>T | CA372191253 | WASHC5 | c.1866T>A (p.Tyr622Ter) c.1422T>A (p.Tyr474Ter) | |
8 | g.125057566T>A | CA372191255 | WASHC5 | c.1865A>T (p.Tyr622Phe) c.1421A>T (p.Tyr474Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057566T>C | CA372191256 | WASHC5 | c.1865A>G (p.Tyr622Cys) c.1421A>G (p.Tyr474Cys) | ClinVar dbSNP gnomAD v4 |
8 | g.125057566T>G | CA372191257 | WASHC5 | c.1865A>C (p.Tyr622Ser) c.1421A>C (p.Tyr474Ser) | |
8 | g.125057566T= | CA1817263328 | WASHC5 | c.1865A= (p.Tyr622=) c.1421A= (p.Tyr474=) | |
8 | g.125057567A>C | CA372191258 | WASHC5 | c.1864T>G (p.Tyr622Asp) c.1420T>G (p.Tyr474Asp) | |
8 | g.125057567A>G | CA372191259 | WASHC5 | c.1864T>C (p.Tyr622His) c.1420T>C (p.Tyr474His) | gnomAD v4 |
8 | g.125057567A>T | CA372191260 | WASHC5 | c.1864T>A (p.Tyr622Asn) c.1420T>A (p.Tyr474Asn) | |
8 | g.125057568G>A | CA462769533 | WASHC5 | c.1863C>T (p.Ser621=) c.1419C>T (p.Ser473=) | |
8 | g.125057568G>C | CA462769531 | WASHC5 | c.1863C>G (p.Ser621=) c.1419C>G (p.Ser473=) | |
8 | g.125057568G>T | CA462769532 | WASHC5 | c.1863C>A (p.Ser621=) c.1419C>A (p.Ser473=) | gnomAD v4 |
8 | g.125057569G>A | CA372191261 | WASHC5 | c.1862C>T (p.Ser621Phe) c.1418C>T (p.Ser473Phe) | COSMIC |
8 | g.125057569G>C | CA372191262 | WASHC5 | c.1862C>G (p.Ser621Cys) c.1418C>G (p.Ser473Cys) | |
8 | g.125057569G>T | CA372191263 | WASHC5 | c.1862C>A (p.Ser621Tyr) c.1418C>A (p.Ser473Tyr) | gnomAD v4 |
8 | g.125057570A>C | CA372191264 | WASHC5 | c.1861T>G (p.Ser621Ala) c.1417T>G (p.Ser473Ala) | |
8 | g.125057570A>G | CA372191265 | WASHC5 | c.1861T>C (p.Ser621Pro) c.1417T>C (p.Ser473Pro) | |
8 | g.125057570A>T | CA372191266 | WASHC5 | c.1861T>A (p.Ser621Thr) c.1417T>A (p.Ser473Thr) | |
8 | g.125057571T>A | CA462769534 | WASHC5 | c.1860A>T (p.Val620=) c.1416A>T (p.Val472=) | |
8 | g.125057571T>C | CA462769535 | WASHC5 | c.1860A>G (p.Val620=) c.1416A>G (p.Val472=) | |
8 | g.125057571T>G | CA462769536 | WASHC5 | c.1860A>C (p.Val620=) c.1416A>C (p.Val472=) | |
8 | g.125057572A>C | CA372191269 | WASHC5 | c.1859T>G (p.Val620Gly) c.1415T>G (p.Val472Gly) | ClinVar dbSNP |
8 | g.125057572A>G | CA372191268 | WASHC5 | c.1859T>C (p.Val620Ala) c.1415T>C (p.Val472Ala) | |
8 | g.125057572A>T | CA372191267 | WASHC5 | c.1859T>A (p.Val620Glu) c.1415T>A (p.Val472Glu) | |
8 | g.125057573C>A | CA372191270 | WASHC5 | c.1858G>T (p.Val620Leu) c.1414G>T (p.Val472Leu) | |
8 | g.125057573C= | CA1817263331 | WASHC5 | c.1858G= (p.Val620=) c.1414G= (p.Val472=) | |
8 | g.125057573C>G | CA372191271 | WASHC5 | c.1858G>C (p.Val620Leu) c.1414G>C (p.Val472Leu) | |
8 | g.125057573C>T | CA372191272 | WASHC5 | c.1858G>A (p.Val620Ile) c.1414G>A (p.Val472Ile) | dbSNP gnomAD v2 |
8 | g.125057574C>A | CA343118 | WASHC5 | c.1857G>T (p.Leu619Phe) c.1413G>T (p.Leu471Phe) | ClinVar dbSNP |
8 | g.125057574C= | CA1817263336 | WASHC5 | c.1857G= (p.Leu619=) c.1413G= (p.Leu471=) | |
8 | g.125057574C>G | CA251713 | WASHC5 | c.1857G>C (p.Leu619Phe) c.1413G>C (p.Leu471Phe) | ClinVar dbSNP |
8 | g.125057574C>T | CA462769537 | WASHC5 | c.1857G>A (p.Leu619=) c.1413G>A (p.Leu471=) | |
8 | g.125057575A>C | CA372191273 | WASHC5 | c.1856T>G (p.Leu619Trp) c.1412T>G (p.Leu471Trp) | |
8 | g.125057575A>G | CA372191274 | WASHC5 | c.1856T>C (p.Leu619Ser) c.1412T>C (p.Leu471Ser) | |
8 | g.125057575A>T | CA372191275 | WASHC5 | c.1856T>A (p.Leu619Ter) c.1412T>A (p.Leu471Ter) | |
8 | g.125057576A>C | CA372191276 | WASHC5 | c.1855T>G (p.Leu619Val) c.1411T>G (p.Leu471Val) | ClinVar |
8 | g.125057576A>G | CA462769538 | WASHC5 | c.1855T>C (p.Leu619=) c.1411T>C (p.Leu471=) | COSMIC |
8 | g.125057576A>T | CA372191277 | WASHC5 | c.1855T>A (p.Leu619Met) c.1411T>A (p.Leu471Met) | |
8 | g.125057577C>A | CA372191278 | WASHC5 | c.1854G>T (p.Glu618Asp) c.1410G>T (p.Glu470Asp) | |
8 | g.125057577C>G | CA372191279 | WASHC5 | c.1854G>C (p.Glu618Asp) c.1410G>C (p.Glu470Asp) | |
8 | g.125057577C>T | CA462769539 | WASHC5 | c.1854G>A (p.Glu618=) c.1410G>A (p.Glu470=) | |
8 | g.125057580_125057581del | CA2510425464 | WASHC5 | c.1853_1854del (p.Glu618ValfsTer?) c.1409_1410del (p.Glu470ValfsTer?) | gnomAD v4 |
8 | g.125057578T>A | CA372191282 | WASHC5 | c.1853A>T (p.Glu618Val) c.1409A>T (p.Glu470Val) | |
8 | g.125057578T>C | CA372191281 | WASHC5 | c.1853A>G (p.Glu618Gly) c.1409A>G (p.Glu470Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057578T>G | CA372191280 | WASHC5 | c.1853A>C (p.Glu618Ala) c.1409A>C (p.Glu470Ala) | |
8 | g.125057578T= | CA1817263341 | WASHC5 | c.1853A= (p.Glu618=) c.1409A= (p.Glu470=) | |
8 | g.125057579C>A | CA372191283 | WASHC5 | c.1852G>T (p.Glu618Ter) c.1408G>T (p.Glu470Ter) | |
8 | g.125057579C= | CA1817263343 | WASHC5 | c.1852G= (p.Glu618=) c.1408G= (p.Glu470=) | |
8 | g.125057579C>G | CA372191285 | WASHC5 | c.1852G>C (p.Glu618Gln) c.1408G>C (p.Glu470Gln) | |
8 | g.125057579C>T | CA372191284 | WASHC5 | c.1852G>A (p.Glu618Lys) c.1408G>A (p.Glu470Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057580T>A | CA462769540 | WASHC5 | c.1851A>T (p.Gly617=) c.1407A>T (p.Gly469=) | |
8 | g.125057580T>C | CA462769541 | WASHC5 | c.1851A>G (p.Gly617=) c.1407A>G (p.Gly469=) | |
8 | g.125057580T>G | CA462769542 | WASHC5 | c.1851A>C (p.Gly617=) c.1407A>C (p.Gly469=) | |
8 | g.125057581C>A | CA372191286 | WASHC5 | c.1850G>T (p.Gly617Val) c.1406G>T (p.Gly469Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057581C= | CA1817263348 | WASHC5 | c.1850G= (p.Gly617=) c.1406G= (p.Gly469=) | |
8 | g.125057581C>G | CA372191288 | WASHC5 | c.1850G>C (p.Gly617Ala) c.1406G>C (p.Gly469Ala) | |
8 | g.125057581C>T | CA372191287 | WASHC5 | c.1850G>A (p.Gly617Glu) c.1406G>A (p.Gly469Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.125057582del | CA2688510122 | WASHC5 | c.1850del (p.Gly617GlufsTer7) c.1406del (p.Gly469GlufsTer7) | gnomAD v4 |
8 | g.125057582C>A | CA372191289 | WASHC5 | c.1849G>T (p.Gly617Ter) c.1405G>T (p.Gly469Ter) | |
8 | g.125057582C>G | CA372191290 | WASHC5 | c.1849G>C (p.Gly617Arg) c.1405G>C (p.Gly469Arg) | |
8 | g.125057582C>T | CA372191291 | WASHC5 | c.1849G>A (p.Gly617Arg) c.1405G>A (p.Gly469Arg) | gnomAD v4 |
8 | g.125057583A>C | CA462769543 | WASHC5 | c.1848T>G (p.Ser616=) c.1404T>G (p.Ser468=) | |
8 | g.125057583A>G | CA462769544 | WASHC5 | c.1848T>C (p.Ser616=) c.1404T>C (p.Ser468=) | |
8 | g.125057583A>T | CA462769545 | WASHC5 | c.1848T>A (p.Ser616=) c.1404T>A (p.Ser468=) | |
8 | g.125057584G>A | CA16042608 | WASHC5 | c.1847C>T (p.Ser616Phe) c.1403C>T (p.Ser468Phe) | ClinVar dbSNP |
8 | g.125057584G>C | CA372191292 | WASHC5 | c.1847C>G (p.Ser616Cys) c.1403C>G (p.Ser468Cys) | dbSNP gnomAD v2 |
8 | g.125057584G= | CA1817263354 | WASHC5 | c.1847C= (p.Ser616=) c.1403C= (p.Ser468=) | |
8 | g.125057584G>T | CA372191293 | WASHC5 | c.1847C>A (p.Ser616Tyr) c.1403C>A (p.Ser468Tyr) | |
8 | g.125057585A>C | CA372191294 | WASHC5 | c.1846T>G (p.Ser616Ala) c.1402T>G (p.Ser468Ala) | |
8 | g.125057585A>G | CA372191295 | WASHC5 | c.1846T>C (p.Ser616Pro) c.1402T>C (p.Ser468Pro) | |
8 | g.125057585A>T | CA372191296 | WASHC5 | c.1846T>A (p.Ser616Thr) c.1402T>A (p.Ser468Thr) | |
8 | g.125057586A>C | CA372191297 | WASHC5 | c.1845T>G (p.Tyr615Ter) c.1401T>G (p.Tyr467Ter) | |
8 | g.125057586A>G | CA462769546 | WASHC5 | c.1845T>C (p.Tyr615=) c.1401T>C (p.Tyr467=) | |
8 | g.125057586A>T | CA372191298 | WASHC5 | c.1845T>A (p.Tyr615Ter) c.1401T>A (p.Tyr467Ter) | |
8 | g.125057587T>A | CA372191300 | WASHC5 | c.1844A>T (p.Tyr615Phe) c.1400A>T (p.Tyr467Phe) | |
8 | g.125057587T>C | CA4873710 | WASHC5 | c.1844A>G (p.Tyr615Cys) c.1400A>G (p.Tyr467Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057587T>G | CA372191299 | WASHC5 | c.1844A>C (p.Tyr615Ser) c.1400A>C (p.Tyr467Ser) | |
8 | g.125057587T= | CA1817263358 | WASHC5 | c.1844A= (p.Tyr615=) c.1400A= (p.Tyr467=) | |
8 | g.125057588A= | CA1817263364 | WASHC5 | c.1843T= (p.Tyr615=) c.1399T= (p.Tyr467=) | |
8 | g.125057588A>C | CA372191301 | WASHC5 | c.1843T>G (p.Tyr615Asp) c.1399T>G (p.Tyr467Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057588A>G | CA372191302 | WASHC5 | c.1843T>C (p.Tyr615His) c.1399T>C (p.Tyr467His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057588A>T | CA372191303 | WASHC5 | c.1843T>A (p.Tyr615Asn) c.1399T>A (p.Tyr467Asn) | |
8 | g.125057589G>A | CA462769547 | WASHC5 | c.1842C>T (p.Tyr614=) c.1398C>T (p.Tyr466=) | |
8 | g.125057589G>C | CA372191304 | WASHC5 | c.1842C>G (p.Tyr614Ter) c.1398C>G (p.Tyr466Ter) | |
8 | g.125057589G>T | CA372191305 | WASHC5 | c.1842C>A (p.Tyr614Ter) c.1398C>A (p.Tyr466Ter) | |
8 | g.125057590T>A | CA372191306 | WASHC5 | c.1841A>T (p.Tyr614Phe) c.1397A>T (p.Tyr466Phe) | |
8 | g.125057590T>C | CA372191307 | WASHC5 | c.1841A>G (p.Tyr614Cys) c.1397A>G (p.Tyr466Cys) | |
8 | g.125057590T>G | CA372191308 | WASHC5 | c.1841A>C (p.Tyr614Ser) c.1397A>C (p.Tyr466Ser) | |
8 | g.125057591A>C | CA372191309 | WASHC5 | c.1840T>G (p.Tyr614Asp) c.1396T>G (p.Tyr466Asp) | |
8 | g.125057591A>G | CA372191310 | WASHC5 | c.1840T>C (p.Tyr614His) c.1396T>C (p.Tyr466His) | gnomAD v4 |
8 | g.125057591A>T | CA372191311 | WASHC5 | c.1840T>A (p.Tyr614Asn) c.1396T>A (p.Tyr466Asn) | |
8 | g.125057592C>A | CA372191312 | WASHC5 | c.1839G>T (p.Gln613His) c.1395G>T (p.Gln465His) | |
8 | g.125057592C= | CA1817263370 | WASHC5 | c.1839G= (p.Gln613=) c.1395G= (p.Gln465=) | |
8 | g.125057592C>G | CA4873711 | WASHC5 | c.1839G>C (p.Gln613His) c.1395G>C (p.Gln465His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057592C>T | CA462769549 | WASHC5 | c.1839G>A (p.Gln613=) c.1395G>A (p.Gln465=) | |
8 | g.125057593T>A | CA372191313 | WASHC5 | c.1838A>T (p.Gln613Leu) c.1394A>T (p.Gln465Leu) | |
8 | g.125057593T>C | CA372191314 | WASHC5 | c.1838A>G (p.Gln613Arg) c.1394A>G (p.Gln465Arg) | |
8 | g.125057593T>G | CA4873712 | WASHC5 | c.1838A>C (p.Gln613Pro) c.1394A>C (p.Gln465Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057593T= | CA1817263374 | WASHC5 | c.1838A= (p.Gln613=) c.1394A= (p.Gln465=) | |
8 | g.125057594G>A | CA372191315 | WASHC5 | c.1837C>T (p.Gln613Ter) c.1393C>T (p.Gln465Ter) | dbSNP gnomAD v4 |
8 | g.125057594G>C | CA372191316 | WASHC5 | c.1837C>G (p.Gln613Glu) c.1393C>G (p.Gln465Glu) | |
8 | g.125057594G= | CA1817263377 | WASHC5 | c.1837C= (p.Gln613=) c.1393C= (p.Gln465=) | |
8 | g.125057594G>T | CA372191317 | WASHC5 | c.1837C>A (p.Gln613Lys) c.1393C>A (p.Gln465Lys) | |
8 | g.125057595T>A | CA462769551 | WASHC5 | c.1836A>T (p.Ser612=) c.1392A>T (p.Ser464=) | |
8 | g.125057595T>C | CA462769552 | WASHC5 | c.1836A>G (p.Ser612=) c.1392A>G (p.Ser464=) | dbSNP |
8 | g.125057595T>G | CA462769550 | WASHC5 | c.1836A>C (p.Ser612=) c.1392A>C (p.Ser464=) | |
8 | g.125057596G>A | CA372191318 | WASHC5 | c.1835C>T (p.Ser612Leu) c.1391C>T (p.Ser464Leu) | dbSNP gnomAD v4 |
8 | g.125057596G>C | CA372191319 | WASHC5 | c.1835C>G (p.Ser612Ter) c.1391C>G (p.Ser464Ter) | |
8 | g.125057596G= | CA1817263382 | WASHC5 | c.1835C= (p.Ser612=) c.1391C= (p.Ser464=) | |
8 | g.125057596G>T | CA372191320 | WASHC5 | c.1835C>A (p.Ser612Ter) c.1391C>A (p.Ser464Ter) | |
8 | g.125057597A>C | CA372191321 | WASHC5 | c.1834T>G (p.Ser612Ala) c.1390T>G (p.Ser464Ala) | |
8 | g.125057597A>G | CA372191322 | WASHC5 | c.1834T>C (p.Ser612Pro) c.1390T>C (p.Ser464Pro) | |
8 | g.125057597A>T | CA372191323 | WASHC5 | c.1834T>A (p.Ser612Thr) c.1390T>A (p.Ser464Thr) | |
8 | g.125057598C>A | CA462769555 | WASHC5 | c.1833G>T (p.Val611=) c.1389G>T (p.Val463=) | |
8 | g.125057598C>G | CA462769554 | WASHC5 | c.1833G>C (p.Val611=) c.1389G>C (p.Val463=) | |
8 | g.125057598C>T | CA462769553 | WASHC5 | c.1833G>A (p.Val611=) c.1389G>A (p.Val463=) | |
8 | g.125057599A>C | CA372191326 | WASHC5 | c.1832T>G (p.Val611Gly) c.1388T>G (p.Val463Gly) | |
8 | g.125057599A>G | CA372191324 | WASHC5 | c.1832T>C (p.Val611Ala) c.1388T>C (p.Val463Ala) | |
8 | g.125057599A>T | CA372191325 | WASHC5 | c.1832T>A (p.Val611Glu) c.1388T>A (p.Val463Glu) | |
8 | g.125057600C>A | CA372191327 | WASHC5 | c.1831G>T (p.Val611Leu) c.1387G>T (p.Val463Leu) | |
8 | g.125057600C= | CA1817263386 | WASHC5 | c.1831G= (p.Val611=) c.1387G= (p.Val463=) | |
8 | g.125057600C>G | CA372191328 | WASHC5 | c.1831G>C (p.Val611Leu) c.1387G>C (p.Val463Leu) | |
8 | g.125057600C>T | CA372191329 | WASHC5 | c.1831G>A (p.Val611Met) c.1387G>A (p.Val463Met) | ClinVar dbSNP gnomAD v4 |
8 | g.125057601G>A | CA4873713 | WASHC5 | c.1830C>T (p.Ser610=) c.1386C>T (p.Ser462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.125057601G>C | CA372191330 | WASHC5 | c.1830C>G (p.Ser610Arg) c.1386C>G (p.Ser462Arg) | |
8 | g.125057601G= | CA1817263390 | WASHC5 | c.1830C= (p.Ser610=) c.1386C= (p.Ser462=) | |
8 | g.125057601G>T | CA372191331 | WASHC5 | c.1830C>A (p.Ser610Arg) c.1386C>A (p.Ser462Arg) | |
8 | g.125057602C>A | CA372191332 | WASHC5 | c.1829G>T (p.Ser610Ile) c.1385G>T (p.Ser462Ile) | |
8 | g.125057602C>G | CA372191333 | WASHC5 | c.1829G>C (p.Ser610Thr) c.1385G>C (p.Ser462Thr) | |
8 | g.125057602C>T | CA372191334 | WASHC5 | c.1829G>A (p.Ser610Asn) c.1385G>A (p.Ser462Asn) | |
8 | g.125057603T>A | CA372191335 | WASHC5 | c.1828A>T (p.Ser610Cys) c.1384A>T (p.Ser462Cys) | |
8 | g.125057603T>C | CA372191336 | WASHC5 | c.1828A>G (p.Ser610Gly) c.1384A>G (p.Ser462Gly) | |
8 | g.125057603T>G | CA372191337 | WASHC5 | c.1828A>C (p.Ser610Arg) c.1384A>C (p.Ser462Arg) | |
8 | g.125057604G>A | CA462769557 | WASHC5 | c.1827C>T (p.Leu609=) c.1383C>T (p.Leu461=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057604G>C | CA462769559 | WASHC5 | c.1827C>G (p.Leu609=) c.1383C>G (p.Leu461=) | |
8 | g.125057604G= | CA1817263393 | WASHC5 | c.1827C= (p.Leu609=) c.1383C= (p.Leu461=) | |
8 | g.125057604G>T | CA462769561 | WASHC5 | c.1827C>A (p.Leu609=) c.1383C>A (p.Leu461=) | |
8 | g.125057605A= | CA1817263395 | WASHC5 | c.1826T= (p.Leu609=) c.1382T= (p.Leu461=) | |
8 | g.125057605A>C | CA372191339 | WASHC5 | c.1826T>G (p.Leu609Arg) c.1382T>G (p.Leu461Arg) | |
8 | g.125057605A>G | CA372191340 | WASHC5 | c.1826T>C (p.Leu609Pro) c.1382T>C (p.Leu461Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057605A>T | CA372191338 | WASHC5 | c.1826T>A (p.Leu609His) c.1382T>A (p.Leu461His) | |
8 | g.125057606G>A | CA372191343 | WASHC5 | c.1825C>T (p.Leu609Phe) c.1381C>T (p.Leu461Phe) | |
8 | g.125057606G>C | CA372191341 | WASHC5 | c.1825C>G (p.Leu609Val) c.1381C>G (p.Leu461Val) | dbSNP |
8 | g.125057606G= | CA1817263400 | WASHC5 | c.1825C= (p.Leu609=) c.1381C= (p.Leu461=) | |
8 | g.125057606G>T | CA372191342 | WASHC5 | c.1825C>A (p.Leu609Ile) c.1381C>A (p.Leu461Ile) | |
8 | g.125057607C>A | CA462769566 | WASHC5 | c.1824G>T (p.Leu608=) c.1380G>T (p.Leu460=) | |
8 | g.125057607C= | CA1817263403 | WASHC5 | c.1824G= (p.Leu608=) c.1380G= (p.Leu460=) | |
8 | g.125057607C>G | CA462769567 | WASHC5 | c.1824G>C (p.Leu608=) c.1380G>C (p.Leu460=) | |
8 | g.125057607C>T | CA462769568 | WASHC5 | c.1824G>A (p.Leu608=) c.1380G>A (p.Leu460=) | dbSNP gnomAD v2 |
8 | g.125057608A= | CA1817263406 | WASHC5 | c.1823T= (p.Leu608=) c.1379T= (p.Leu460=) | |
8 | g.125057608A>C | CA372191344 | WASHC5 | c.1823T>G (p.Leu608Arg) c.1379T>G (p.Leu460Arg) | |
8 | g.125057608A>G | CA372191345 | WASHC5 | c.1823T>C (p.Leu608Pro) c.1379T>C (p.Leu460Pro) | |
8 | g.125057608A>T | CA4873714 | WASHC5 | c.1823T>A (p.Leu608Gln) c.1379T>A (p.Leu460Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057609G>A | CA462769572 | WASHC5 | c.1822C>T (p.Leu608=) c.1378C>T (p.Leu460=) | |
8 | g.125057609G>C | CA372191346 | WASHC5 | c.1822C>G (p.Leu608Val) c.1378C>G (p.Leu460Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057609G= | CA1817263409 | WASHC5 | c.1822C= (p.Leu608=) c.1378C= (p.Leu460=) | |
8 | g.125057609G>T | CA372191347 | WASHC5 | c.1822C>A (p.Leu608Met) c.1378C>A (p.Leu460Met) | gnomAD v4 |
8 | g.125057610G>A | CA462769575 | WASHC5 | c.1821C>T (p.Asp607=) c.1377C>T (p.Asp459=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057610G>C | CA372191348 | WASHC5 | c.1821C>G (p.Asp607Glu) c.1377C>G (p.Asp459Glu) | |
8 | g.125057610G= | CA1817263412 | WASHC5 | c.1821C= (p.Asp607=) c.1377C= (p.Asp459=) | |
8 | g.125057610G>T | CA372191349 | WASHC5 | c.1821C>A (p.Asp607Glu) c.1377C>A (p.Asp459Glu) | |
8 | g.125057611T>A | CA372191350 | WASHC5 | c.1820A>T (p.Asp607Val) c.1376A>T (p.Asp459Val) | |
8 | g.125057611T>C | CA372191351 | WASHC5 | c.1820A>G (p.Asp607Gly) c.1376A>G (p.Asp459Gly) | |
8 | g.125057611T>G | CA372191352 | WASHC5 | c.1820A>C (p.Asp607Ala) c.1376A>C (p.Asp459Ala) | |
8 | g.125057612C>A | CA372191355 | WASHC5 | c.1819G>T (p.Asp607Tyr) c.1375G>T (p.Asp459Tyr) | gnomAD v4 |
8 | g.125057612C>G | CA372191353 | WASHC5 | c.1819G>C (p.Asp607His) c.1375G>C (p.Asp459His) | |
8 | g.125057612C>T | CA372191354 | WASHC5 | c.1819G>A (p.Asp607Asn) c.1375G>A (p.Asp459Asn) | |
8 | g.125057613G>A | CA4873715 | WASHC5 | c.1818C>T (p.Pro606=) c.1374C>T (p.Pro458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057613G>C | CA462769581 | WASHC5 | c.1818C>G (p.Pro606=) c.1374C>G (p.Pro458=) | |
8 | g.125057613G= | CA1817263417 | WASHC5 | c.1818C= (p.Pro606=) c.1374C= (p.Pro458=) | |
8 | g.125057613G>T | CA462769582 | WASHC5 | c.1818C>A (p.Pro606=) c.1374C>A (p.Pro458=) | dbSNP |
8 | g.125057614G>A | CA372191356 | WASHC5 | c.1817C>T (p.Pro606Leu) c.1373C>T (p.Pro458Leu) | dbSNP gnomAD v2 |
8 | g.125057614G>C | CA372191357 | WASHC5 | c.1817C>G (p.Pro606Arg) c.1373C>G (p.Pro458Arg) | COSMIC |
8 | g.125057614G= | CA1817263421 | WASHC5 | c.1817C= (p.Pro606=) c.1373C= (p.Pro458=) | |
8 | g.125057614G>T | CA372191358 | WASHC5 | c.1817C>A (p.Pro606His) c.1373C>A (p.Pro458His) | |
8 | g.125057615G>A | CA372191359 | WASHC5 | c.1816C>T (p.Pro606Ser) c.1372C>T (p.Pro458Ser) | |
8 | g.125057615G>C | CA372191360 | WASHC5 | c.1816C>G (p.Pro606Ala) c.1372C>G (p.Pro458Ala) | |
8 | g.125057615G>T | CA372191361 | WASHC5 | c.1816C>A (p.Pro606Thr) c.1372C>A (p.Pro458Thr) | |
8 | g.125057615_125057617del | CA2688510124 | WASHC5 | c.1814_1816del (p.Ser605_Pro606delinsThr) c.1370_1372del (p.Ser457_Pro458delinsThr) | gnomAD v4 |
8 | g.125057616G>A | CA462769590 | WASHC5 | c.1815C>T (p.Ser605=) c.1371C>T (p.Ser457=) | gnomAD v4 |
8 | g.125057616G>C | CA372191362 | WASHC5 | c.1815C>G (p.Ser605Arg) c.1371C>G (p.Ser457Arg) | |
8 | g.125057616G>T | CA372191363 | WASHC5 | c.1815C>A (p.Ser605Arg) c.1371C>A (p.Ser457Arg) | gnomAD v4 |
8 | g.125057617C>A | CA372191364 | WASHC5 | c.1814G>T (p.Ser605Ile) c.1370G>T (p.Ser457Ile) | |
8 | g.125057617C>G | CA372191365 | WASHC5 | c.1814G>C (p.Ser605Thr) c.1370G>C (p.Ser457Thr) | |
8 | g.125057617C>T | CA372191366 | WASHC5 | c.1814G>A (p.Ser605Asn) c.1370G>A (p.Ser457Asn) | |
8 | g.125057618T>A | CA372191368 | WASHC5 | c.1813A>T (p.Ser605Cys) c.1369A>T (p.Ser457Cys) | |
8 | g.125057618T>C | CA372191369 | WASHC5 | c.1813A>G (p.Ser605Gly) c.1369A>G (p.Ser457Gly) | |
8 | g.125057618T>G | CA372191367 | WASHC5 | c.1813A>C (p.Ser605Arg) c.1369A>C (p.Ser457Arg) | |
8 | g.125057619A= | CA1817263423 | WASHC5 | c.1812T= (p.Asn604=) c.1368T= (p.Asn456=) | |
8 | g.125057619A>C | CA372191370 | WASHC5 | c.1812T>G (p.Asn604Lys) c.1368T>G (p.Asn456Lys) | |
8 | g.125057619A>G | CA462769596 | WASHC5 | c.1812T>C (p.Asn604=) c.1368T>C (p.Asn456=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057619A>T | CA372191371 | WASHC5 | c.1812T>A (p.Asn604Lys) c.1368T>A (p.Asn456Lys) | |
8 | g.125057620T>A | CA372191372 | WASHC5 | c.1811A>T (p.Asn604Ile) c.1367A>T (p.Asn456Ile) | |
8 | g.125057620T>C | CA372191373 | WASHC5 | c.1811A>G (p.Asn604Ser) c.1367A>G (p.Asn456Ser) | gnomAD v4 |
8 | g.125057620T>G | CA372191374 | WASHC5 | c.1811A>C (p.Asn604Thr) c.1367A>C (p.Asn456Thr) | |
8 | g.125057621T>A | CA372191375 | WASHC5 | c.1810A>T (p.Asn604Tyr) c.1366A>T (p.Asn456Tyr) | |
8 | g.125057621T>C | CA4873716 | WASHC5 | c.1810A>G (p.Asn604Asp) c.1366A>G (p.Asn456Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057621T>G | CA372191376 | WASHC5 | c.1810A>C (p.Asn604His) c.1366A>C (p.Asn456His) | |
8 | g.125057621T= | CA1817263427 | WASHC5 | c.1810A= (p.Asn604=) c.1366A= (p.Asn456=) | |
8 | g.125057622T>A | CA462769606 | WASHC5 | c.1809A>T (p.Ala603=) c.1365A>T (p.Ala455=) | |
8 | g.125057622T>C | CA462769602 | WASHC5 | c.1809A>G (p.Ala603=) c.1365A>G (p.Ala455=) | gnomAD v4 |
8 | g.125057622T>G | CA462769604 | WASHC5 | c.1809A>C (p.Ala603=) c.1365A>C (p.Ala455=) | |
8 | g.125057623G>A | CA372191377 | WASHC5 | c.1808C>T (p.Ala603Val) c.1364C>T (p.Ala455Val) | gnomAD v4 |
8 | g.125057623G>C | CA372191378 | WASHC5 | c.1808C>G (p.Ala603Gly) c.1364C>G (p.Ala455Gly) | |
8 | g.125057623G= | CA1817263431 | WASHC5 | c.1808C= (p.Ala603=) c.1364C= (p.Ala455=) | |
8 | g.125057623G>T | CA372191379 | WASHC5 | c.1808C>A (p.Ala603Glu) c.1364C>A (p.Ala455Glu) | dbSNP |