X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013161_25013190del | CA2693353413 | ARX | c.810_839del (p.Thr271_Ala280del)
| gnomAD v4 |
X | g.25013164T>A | CA515947477 | ARX | c.831A>T (p.Ala277=)
| |
X | g.25013164T>C | CA515947481 | ARX | c.831A>G (p.Ala277=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013164T>G | CA515947482 | ARX | c.831A>C (p.Ala277=)
| |
X | g.25013164T= | CA2420209135 | ARX | c.831A= (p.Ala277=)
| |
X | g.25013165G>A | CA412612347 | ARX | c.830C>T (p.Ala277Val)
| |
X | g.25013165G>C | CA412612348 | ARX | c.830C>G (p.Ala277Gly)
| |
X | g.25013165G>T | CA412612349 | ARX | c.830C>A (p.Ala277Glu)
| |
X | g.25013166C>A | CA412612350 | ARX | c.829G>T (p.Ala277Ser)
| |
X | g.25013166C= | CA2420209136 | ARX | c.829G= (p.Ala277=)
| |
X | g.25013166C>G | CA412612351 | ARX | c.829G>C (p.Ala277Pro)
| |
X | g.25013166C>T | CA412612352 | ARX | c.829G>A (p.Ala277Thr)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013167T>A | CA515947495 | ARX | c.828A>T (p.Ala276=)
| |
X | g.25013167T>C | CA515947496 | ARX | c.828A>G (p.Ala276=)
| |
X | g.25013167T>G | CA515947497 | ARX | c.828A>C (p.Ala276=)
| |
X | g.25013168del | CA2552618203 | ARX | c.827del (p.Ala276GlufsTer?)
| |
X | g.25013168G>A | CA412612354 | ARX | c.827C>T (p.Ala276Val)
| |
X | g.25013168G>C | CA412612355 | ARX | c.827C>G (p.Ala276Gly)
| |
X | g.25013168G>T | CA412612353 | ARX | c.827C>A (p.Ala276Glu)
| gnomAD v4 |
X | g.25013176_25013193dup | CA2693353440 | ARX | c.810_827dup (p.Ala276_Ala277insThrGlyAlaValAlaAla)
| gnomAD v4 |
X | g.25013176_25013193del | CA2592314635 | ARX | c.810_827del (p.Thr271_Ala276del)
| gnomAD v3 gnomAD v4 |
X | g.25013169C>A | CA412612356 | ARX | c.826G>T (p.Ala276Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013169C= | CA2420209137 | ARX | c.826G= (p.Ala276=)
| |
X | g.25013169C>G | CA412612357 | ARX | c.826G>C (p.Ala276Pro)
| dbSNP gnomAD v4 |
X | g.25013169C>T | CA412612358 | ARX | c.826G>A (p.Ala276Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013170G>A | CA16616649 | ARX | c.825C>T (p.Ala275=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013170G>C | CA515947502 | ARX | c.825C>G (p.Ala275=)
| |
X | g.25013170G= | CA2420209138 | ARX | c.825C= (p.Ala275=)
| |
X | g.25013170G>T | CA515947505 | ARX | c.825C>A (p.Ala275=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013170_25013171del | CA2530386685 | ARX | c.824_825del (p.Ala275GlyfsTer28)
| |
X | g.25013171G>A | CA412612359 | ARX | c.824C>T (p.Ala275Val)
| dbSNP gnomAD v4 |
X | g.25013171G>C | CA412612360 | ARX | c.824C>G (p.Ala275Gly)
| |
X | g.25013171G>T | CA412612361 | ARX | c.824C>A (p.Ala275Asp)
| gnomAD v4 |
X | g.25013172C>A | CA412612364 | ARX | c.823G>T (p.Ala275Ser)
| |
X | g.25013172C>G | CA412612362 | ARX | c.823G>C (p.Ala275Pro)
| |
X | g.25013172C>T | CA412612363 | ARX | c.823G>A (p.Ala275Thr)
| gnomAD v4 |
X | g.25013173C>A | CA515947510 | ARX | c.822G>T (p.Val274=)
| gnomAD v4 |
X | g.25013173C= | CA2420209139 | ARX | c.822G= (p.Val274=)
| |
X | g.25013173C>G | CA515947511 | ARX | c.822G>C (p.Val274=)
| |
X | g.25013173C>T | CA515947512 | ARX | c.822G>A (p.Val274=)
| ClinVar dbSNP |
X | g.25013174A= | CA2420209140 | ARX | c.821T= (p.Val274=)
| |
X | g.25013174A>C | CA412612365 | ARX | c.821T>G (p.Val274Gly)
| |
X | g.25013174A>G | CA10373874 | ARX | c.821T>C (p.Val274Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013174A>T | CA412612366 | ARX | c.821T>A (p.Val274Glu)
| |
X | g.25013174dup | CA2580618167 | ARX | c.821dup (p.Ala275GlyfsTer29)
| ClinVar |
X | g.25013174_25013176del | CA2563881402 | ARX | c.819_821del (p.Val274del)
| |
X | g.25013175C>A | CA412612367 | ARX | c.820G>T (p.Val274Leu)
| gnomAD v4 |
X | g.25013175C>G | CA412612368 | ARX | c.820G>C (p.Val274Leu)
| |
X | g.25013175C>T | CA412612369 | ARX | c.820G>A (p.Val274Met)
| |
X | g.25013176G>A | CA515947517 | ARX | c.819C>T (p.Ala273=)
| dbSNP |
X | g.25013176G>C | CA515947521 | ARX | c.819C>G (p.Ala273=)
| |
X | g.25013176G= | CA2420209141 | ARX | c.819C= (p.Ala273=)
| |
X | g.25013176G>T | CA515947522 | ARX | c.819C>A (p.Ala273=)
| gnomAD v4 |
X | g.25013177G>A | CA412612370 | ARX | c.818C>T (p.Ala273Val)
| gnomAD v4 |
X | g.25013177G>C | CA327733043 | ARX | c.818C>G (p.Ala273Gly)
| dbSNP gnomAD v4 |
X | g.25013177G= | CA2420209142 | ARX | c.818C= (p.Ala273=)
| |
X | g.25013177G>T | CA412612371 | ARX | c.818C>A (p.Ala273Asp)
| gnomAD v4 |
X | g.25013178C>A | CA412612372 | ARX | c.817G>T (p.Ala273Ser)
| gnomAD v4 |
X | g.25013178C= | CA2420209143 | ARX | c.817G= (p.Ala273=)
| |
X | g.25013178C>G | CA412612373 | ARX | c.817G>C (p.Ala273Pro)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013178C>T | CA412612374 | ARX | c.817G>A (p.Ala273Thr)
| gnomAD v4 |
X | g.25013179G>A | CA515947528 | ARX | c.816C>T (p.Gly272=)
| ClinVar gnomAD v4 COSMIC |
X | g.25013179G>C | CA515947529 | ARX | c.816C>G (p.Gly272=)
| |
X | g.25013179G>T | CA515947531 | ARX | c.816C>A (p.Gly272=)
| gnomAD v4 |
X | g.25013180C>A | CA10373875 | ARX | c.815G>T (p.Gly272Val)
| dbSNP ExAC |
X | g.25013180C= | CA2420209144 | ARX | c.815G= (p.Gly272=)
| |
X | g.25013180C>G | CA412612375 | ARX | c.815G>C (p.Gly272Ala)
| |
X | g.25013180C>T | CA412612376 | ARX | c.815G>A (p.Gly272Asp)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013181C>A | CA412612377 | ARX | c.814G>T (p.Gly272Cys)
| gnomAD v4 |
X | g.25013181C>G | CA412612378 | ARX | c.814G>C (p.Gly272Arg)
| |
X | g.25013181C>T | CA412612379 | ARX | c.814G>A (p.Gly272Ser)
| gnomAD v4 |
X | g.25013182A= | CA2420209145 | ARX | c.813T= (p.Thr271=)
| |
X | g.25013182A>C | CA515947549 | ARX | c.813T>G (p.Thr271=)
| |
X | g.25013182A>G | CA515947548 | ARX | c.813T>C (p.Thr271=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013182A>T | CA515947546 | ARX | c.813T>A (p.Thr271=)
| |
X | g.25013182_25013189del | CA2557346376 | ARX | c.806_813del (p.Ala269GlyfsTer?)
| |
X | g.25013183G>A | CA412612380 | ARX | c.812C>T (p.Thr271Ile)
| |
X | g.25013183G>C | CA412612381 | ARX | c.812C>G (p.Thr271Ser)
| |
X | g.25013183G>T | CA412612382 | ARX | c.812C>A (p.Thr271Asn)
| gnomAD v4 |
X | g.25013184T>A | CA412612383 | ARX | c.811A>T (p.Thr271Ser)
| |
X | g.25013184T>C | CA16608823 | ARX | c.811A>G (p.Thr271Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013184T>G | CA412612384 | ARX | c.811A>C (p.Thr271Pro)
| dbSNP |
X | g.25013184T= | CA2420209146 | ARX | c.811A= (p.Thr271=)
| |
X | g.25013185G>A | CA515947559 | ARX | c.810C>T (p.Ala270=)
| ClinVar dbSNP |
X | g.25013185G>C | CA515947560 | ARX | c.810C>G (p.Ala270=)
| |
X | g.25013185G= | CA2420209147 | ARX | c.810C= (p.Ala270=)
| |
X | g.25013185G>T | CA515947561 | ARX | c.810C>A (p.Ala270=)
| |
X | g.25013186del | CA2532794375 | ARX | c.810del (p.Thr271LeufsTer?)
| |
X | g.25013186G>A | CA412612385 | ARX | c.809C>T (p.Ala270Val)
| gnomAD v4 |
X | g.25013186G>C | CA412612386 | ARX | c.809C>G (p.Ala270Gly)
| |
X | g.25013186G>T | CA412612387 | ARX | c.809C>A (p.Ala270Asp)
| gnomAD v4 |
X | g.25013187C>A | CA412612388 | ARX | c.808G>T (p.Ala270Ser)
| |
X | g.25013187C= | CA2420209148 | ARX | c.808G= (p.Ala270=)
| |
X | g.25013187C>G | CA412612389 | ARX | c.808G>C (p.Ala270Pro)
| |
X | g.25013187C>T | CA16608410 | ARX | c.808G>A (p.Ala270Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013188G>A | CA171162 | ARX | c.807C>T (p.Ala269=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013188G>C | CA515947570 | ARX | c.807C>G (p.Ala269=)
| gnomAD v4 |
X | g.25013188G= | CA2420209149 | ARX | c.807C= (p.Ala269=)
| |
X | g.25013188G>T | CA515947569 | ARX | c.807C>A (p.Ala269=)
| gnomAD v4 |
X | g.25013189G>A | CA412612390 | ARX | c.806C>T (p.Ala269Val)
| dbSNP gnomAD v4 |
X | g.25013189G>C | CA412612391 | ARX | c.806C>G (p.Ala269Gly)
| |
X | g.25013189G= | CA2420209150 | ARX | c.806C= (p.Ala269=)
| |
X | g.25013189G>T | CA412612392 | ARX | c.806C>A (p.Ala269Asp)
| gnomAD v4 |
X | g.25013190C>A | CA412612393 | ARX | c.805G>T (p.Ala269Ser)
| |
X | g.25013190C>G | CA412612394 | ARX | c.805G>C (p.Ala269Pro)
| |
X | g.25013190C>T | CA412612395 | ARX | c.805G>A (p.Ala269Thr)
| gnomAD v4 |
X | g.25013191C>A | CA515947573 | ARX | c.804G>T (p.Val268=)
| |
X | g.25013191C= | CA2420209151 | ARX | c.804G= (p.Val268=)
| |
X | g.25013191C>G | CA515947575 | ARX | c.804G>C (p.Val268=)
| |
X | g.25013191C>T | CA327733044 | ARX | c.804G>A (p.Val268=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013192A= | CA2420209152 | ARX | c.803T= (p.Val268=)
| |
X | g.25013192A>C | CA224137 | ARX | c.803T>G (p.Val268Gly)
| ClinVar dbSNP gnomAD v4 |
X | g.25013192A>G | CA412612396 | ARX | c.803T>C (p.Val268Ala)
| |
X | g.25013192A>T | CA412612397 | ARX | c.803T>A (p.Val268Glu)
| |
X | g.25013193C>A | CA294725 | ARX | c.802G>T (p.Val268Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013193C= | CA2420209153 | ARX | c.802G= (p.Val268=)
| |
X | g.25013193C>G | CA412612398 | ARX | c.802G>C (p.Val268Leu)
| |
X | g.25013193C>T | CA412612399 | ARX | c.802G>A (p.Val268Met)
| |
X | g.25013194A>C | CA515947581 | ARX | c.801T>G (p.Pro267=)
| |
X | g.25013194A>G | CA515947582 | ARX | c.801T>C (p.Pro267=)
| |
X | g.25013194A>T | CA515947583 | ARX | c.801T>A (p.Pro267=)
| gnomAD v4 |
X | g.25013195G>A | CA412612400 | ARX | c.800C>T (p.Pro267Leu)
| gnomAD v4 |
X | g.25013195G>C | CA412612401 | ARX | c.800C>G (p.Pro267Arg)
| |
X | g.25013195G>T | CA412612402 | ARX | c.800C>A (p.Pro267His)
| gnomAD v4 |
X | g.25013196G>A | CA412612403 | ARX | c.799C>T (p.Pro267Ser)
| gnomAD v4 |
X | g.25013196G>C | CA412612404 | ARX | c.799C>G (p.Pro267Ala)
| |
X | g.25013196G>T | CA412612405 | ARX | c.799C>A (p.Pro267Thr)
| gnomAD v4 |
X | g.25013197A>C | CA412612406 | ARX | c.798T>G (p.Cys266Trp)
| |
X | g.25013197A>G | CA515947591 | ARX | c.798T>C (p.Cys266=)
| |
X | g.25013197A>T | CA412612407 | ARX | c.798T>A (p.Cys266Ter)
| |
X | g.25013198C>A | CA412612410 | ARX | c.797G>T (p.Cys266Phe)
| |
X | g.25013198C>G | CA412612409 | ARX | c.797G>C (p.Cys266Ser)
| |
X | g.25013198C>T | CA412612408 | ARX | c.797G>A (p.Cys266Tyr)
| |
X | g.25013199A>C | CA412612411 | ARX | c.796T>G (p.Cys266Gly)
| |
X | g.25013199A>G | CA412612413 | ARX | c.796T>C (p.Cys266Arg)
| |
X | g.25013199A>T | CA412612412 | ARX | c.796T>A (p.Cys266Ser)
| |
X | g.25013200G>A | CA515947415 | ARX | c.795C>T (p.Arg265=)
| |
X | g.25013200G>C | CA515947412 | ARX | c.795C>G (p.Arg265=)
| |
X | g.25013200G>T | CA515947414 | ARX | c.795C>A (p.Arg265=)
| |
X | g.25013201C>A | CA412612414 | ARX | c.794G>T (p.Arg265Leu)
| |
X | g.25013201C= | CA2420209154 | ARX | c.794G= (p.Arg265=)
| |
X | g.25013201C>G | CA412612416 | ARX | c.794G>C (p.Arg265Pro)
| gnomAD v4 |
X | g.25013201C>T | CA412612415 | ARX | c.794G>A (p.Arg265His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.25013202G>A | CA10373876 | ARX | c.793C>T (p.Arg265Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013202G>C | CA412612417 | ARX | c.793C>G (p.Arg265Gly)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013202G= | CA2420209155 | ARX | c.793C= (p.Arg265=)
| |
X | g.25013202G>T | CA10373877 | ARX | c.793C>A (p.Arg265Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013203C>A | CA515947426 | ARX | c.792G>T (p.Arg264=)
| |
X | g.25013203C>G | CA515947427 | ARX | c.792G>C (p.Arg264=)
| |
X | g.25013203C>T | CA515947428 | ARX | c.792G>A (p.Arg264=)
| gnomAD v4 |
X | g.25013204C>A | CA412612418 | ARX | c.791G>T (p.Arg264Leu)
| |
X | g.25013204C= | CA2420209157 | ARX | c.791G= (p.Arg264=)
| |
X | g.25013204C>G | CA412612419 | ARX | c.791G>C (p.Arg264Pro)
| |
X | g.25013204C>T | CA327733045 | ARX | c.791G>A (p.Arg264Gln)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013204_25013205delinsCG | CA2420209156 | ARX | c.790_791delinsCG (p.Arg264=)
| |
X | g.25013205G>A | CA412612420 | ARX | c.790C>T (p.Arg264Trp)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013205G>C | CA412612421 | ARX | c.790C>G (p.Arg264Gly)
| |
X | g.25013205G= | CA2420209158 | ARX | c.790C= (p.Arg264=)
| |
X | g.25013205G>T | CA515947430 | ARX | c.790C>A (p.Arg264=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013208del | CA10605649 | ARX | c.790del (p.Arg264GlyfsTer?)
| ClinVar dbSNP |
X | g.25013206G>A | CA515947431 | ARX | c.789C>T (p.Pro263=)
| |
X | g.25013206G>C | CA515947433 | ARX | c.789C>G (p.Pro263=)
| |
X | g.25013206G>T | CA515947434 | ARX | c.789C>A (p.Pro263=)
| |
X | g.25013207G>A | CA412612422 | ARX | c.788C>T (p.Pro263Leu)
| gnomAD v4 |
X | g.25013207G>C | CA412612423 | ARX | c.788C>G (p.Pro263Arg)
| |
X | g.25013207G>T | CA412612424 | ARX | c.788C>A (p.Pro263His)
| |
X | g.25013208G>A | CA412612425 | ARX | c.787C>T (p.Pro263Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.25013208G>C | CA412612426 | ARX | c.787C>G (p.Pro263Ala)
| |
X | g.25013208G>T | CA412612427 | ARX | c.787C>A (p.Pro263Thr)
| |
X | g.25013209C>A | CA412612429 | ARX | c.786G>T (p.Glu262Asp)
| gnomAD v4 |
X | g.25013209C>G | CA412612428 | ARX | c.786G>C (p.Glu262Asp)
| |
X | g.25013209C>T | CA515947445 | ARX | c.786G>A (p.Glu262=)
| |
X | g.25013210T>A | CA412612430 | ARX | c.785A>T (p.Glu262Val)
| |
X | g.25013210T>C | CA412612431 | ARX | c.785A>G (p.Glu262Gly)
| |
X | g.25013210T>G | CA412612432 | ARX | c.785A>C (p.Glu262Ala)
| |
X | g.25013211C>A | CA412612433 | ARX | c.784G>T (p.Glu262Ter)
| |
X | g.25013211C>G | CA412612434 | ARX | c.784G>C (p.Glu262Gln)
| |
X | g.25013211C>T | CA412612435 | ARX | c.784G>A (p.Glu262Lys)
| COSMIC |
X | g.25013212C>A | CA412612436 | ARX | c.783G>T (p.Lys261Asn)
| gnomAD v4 |
X | g.25013212C>G | CA412612437 | ARX | c.783G>C (p.Lys261Asn)
| |
X | g.25013212C>T | CA515947451 | ARX | c.783G>A (p.Lys261=)
| |
X | g.25013213T>A | CA412612438 | ARX | c.782A>T (p.Lys261Met)
| |
X | g.25013213T>C | CA412612439 | ARX | c.782A>G (p.Lys261Arg)
| |
X | g.25013213T>G | CA412612440 | ARX | c.782A>C (p.Lys261Thr)
| |
X | g.25013214T>A | CA412612442 | ARX | c.781A>T (p.Lys261Ter)
| |
X | g.25013214T>C | CA327733046 | ARX | c.781A>G (p.Lys261Glu)
| ClinVar dbSNP |
X | g.25013214T>G | CA412612441 | ARX | c.781A>C (p.Lys261Gln)
| |
X | g.25013214T= | CA2420209159 | ARX | c.781A= (p.Lys261=)
| |
X | g.25013215G>A | CA10373878 | ARX | c.780C>T (p.Leu260=)
| ClinVar dbSNP ExAC gnomAD v2 |
X | g.25013215G>C | CA515947459 | ARX | c.780C>G (p.Leu260=)
| |
X | g.25013215G= | CA2420209160 | ARX | c.780C= (p.Leu260=)
| |
X | g.25013215G>T | CA515947461 | ARX | c.780C>A (p.Leu260=)
| |
X | g.25013216A>C | CA412612443 | ARX | c.779T>G (p.Leu260Arg)
| |
X | g.25013216A>G | CA412612444 | ARX | c.779T>C (p.Leu260Pro)
| |
X | g.25013216A>T | CA412612445 | ARX | c.779T>A (p.Leu260His)
| |
X | g.25013217G>A | CA412612446 | ARX | c.778C>T (p.Leu260Phe)
| |
X | g.25013217G>C | CA412612447 | ARX | c.778C>G (p.Leu260Val)
| |
X | g.25013217G>T | CA412612448 | ARX | c.778C>A (p.Leu260Ile)
| |
X | g.25013218C>A | CA515947469 | ARX | c.777G>T (p.Leu259=)
| gnomAD v4 |
X | g.25013218C>G | CA515947470 | ARX | c.777G>C (p.Leu259=)
| |
X | g.25013218C>T | CA515947471 | ARX | c.777G>A (p.Leu259=)
| gnomAD v4 |
X | g.25013219A= | CA2420209161 | ARX | c.776T= (p.Leu259=)
| |
X | g.25013219A>C | CA412612449 | ARX | c.776T>G (p.Leu259Arg)
| |
X | g.25013219A>G | CA10373879 | ARX | c.776T>C (p.Leu259Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013219A>T | CA412612450 | ARX | c.776T>A (p.Leu259Gln)
| |
X | g.25013220G>A | CA515947474 | ARX | c.775C>T (p.Leu259=)
| |
X | g.25013220G>C | CA412612451 | ARX | c.775C>G (p.Leu259Val)
| |
X | g.25013220G>T | CA412612452 | ARX | c.775C>A (p.Leu259Met)
| |
X | g.25013221C>A | CA515947478 | ARX | c.774G>T (p.Ala258=)
| gnomAD v4 |
X | g.25013221C= | CA2420209162 | ARX | c.774G= (p.Ala258=)
| |
X | g.25013221C>G | CA515947480 | ARX | c.774G>C (p.Ala258=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013221C>T | CA515947484 | ARX | c.774G>A (p.Ala258=)
| gnomAD v4 |
X | g.25013222G>A | CA412612454 | ARX | c.773C>T (p.Ala258Val)
| gnomAD v4 |
X | g.25013222G>C | CA10373880 | ARX | c.773C>G (p.Ala258Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013222G= | CA2420209163 | ARX | c.773C= (p.Ala258=)
| |
X | g.25013222G>T | CA412612453 | ARX | c.773C>A (p.Ala258Glu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013223C>A | CA327733047 | ARX | c.772G>T (p.Ala258Ser)
| dbSNP gnomAD v4 |
X | g.25013223C= | CA2420209164 | ARX | c.772G= (p.Ala258=)
| |
X | g.25013223C>G | CA412612455 | ARX | c.772G>C (p.Ala258Pro)
| gnomAD v4 |
X | g.25013223C>T | CA412612456 | ARX | c.772G>A (p.Ala258Thr)
| dbSNP gnomAD v4 |
X | g.25013224G>A | CA515947488 | ARX | c.771C>T (p.Arg257=)
| ClinVar dbSNP |
X | g.25013224G>C | CA515947489 | ARX | c.771C>G (p.Arg257=)
| gnomAD v4 |
X | g.25013224G= | CA2420209165 | ARX | c.771C= (p.Arg257=)
| |
X | g.25013224G>T | CA515947490 | ARX | c.771C>A (p.Arg257=)
| gnomAD v4 |
X | g.25013225C>A | CA412612457 | ARX | c.770G>T (p.Arg257Leu)
| |
X | g.25013225C= | CA2420209166 | ARX | c.770G= (p.Arg257=)
| |
X | g.25013225C>G | CA412612458 | ARX | c.770G>C (p.Arg257Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013225C>T | CA412612459 | ARX | c.770G>A (p.Arg257His)
| ClinVar gnomAD v4 |
X | g.25013226G>A | CA412612460 | ARX | c.769C>T (p.Arg257Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013226G>C | CA412612461 | ARX | c.769C>G (p.Arg257Gly)
| ClinVar dbSNP |
X | g.25013226G= | CA2420209167 | ARX | c.769C= (p.Arg257=)
| |
X | g.25013226G>T | CA412612462 | ARX | c.769C>A (p.Arg257Ser)
| gnomAD v4 |
X | g.25013227G>A | CA515947503 | ARX | c.768C>T (p.Ala256=)
| gnomAD v4 |
X | g.25013227G>C | CA515947504 | ARX | c.768C>G (p.Ala256=)
| |
X | g.25013227G= | CA2420209168 | ARX | c.768C= (p.Ala256=)
| |
X | g.25013227G>T | CA515947506 | ARX | c.768C>A (p.Ala256=)
| gnomAD v4 |
X | g.25013228G>A | CA412612463 | ARX | c.767C>T (p.Ala256Val)
| |
X | g.25013228G>C | CA412612464 | ARX | c.767C>G (p.Ala256Gly)
| |
X | g.25013228G= | CA2420209170 | ARX | c.767C= (p.Ala256=)
| |
X | g.25013228G>T | CA412612465 | ARX | c.767C>A (p.Ala256Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013228_25013251dup | CA2420209171 | ARX | c.744_767dup (p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla)
| dbSNP |
X | g.25013228_25013252delinsGCGTCGTCCTCCAGCAGCTCCTCCT | CA2420209169 | ARX | c.743_767delinsAGGAGGAGCTGCTGGAGGACGACGC (p.Glu248=)
| |
X | g.25013229C>A | CA412612467 | ARX | c.766G>T (p.Ala256Ser)
| gnomAD v4 |
X | g.25013229C= | CA2420209172 | ARX | c.766G= (p.Ala256=)
| |
X | g.25013229C>G | CA412612466 | ARX | c.766G>C (p.Ala256Pro)
| ClinVar dbSNP |
X | g.25013229C>T | CA10373881 | ARX | c.766G>A (p.Ala256Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013245_25013268dup | CA2693353584 | ARX | c.743_766dup (p.Asp255_Ala256insGluGluGluLeuLeuGluAspAsp)
| gnomAD v4 |
X | g.25013245_25013268del | CA641364630 | ARX | c.743_766del (p.Glu248_Asp255del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013230G>A | CA515947514 | ARX | c.765C>T (p.Asp255=)
| ClinVar gnomAD v4 |
X | g.25013230G>C | CA412612469 | ARX | c.765C>G (p.Asp255Glu)
| |
X | g.25013230G>T | CA412612468 | ARX | c.765C>A (p.Asp255Glu)
| gnomAD v4 |
X | g.25013230_25013293delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT | CA2420209173 | ARX | c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC (p.Glu234=)
| |
X | g.25013231T>A | CA412612472 | ARX | c.764A>T (p.Asp255Val)
| |
X | g.25013231T>C | CA412612470 | ARX | c.764A>G (p.Asp255Gly)
| |
X | g.25013231T>G | CA412612471 | ARX | c.764A>C (p.Asp255Ala)
| |
X | g.25013263_25013325dup | CA2693353589 | ARX | c.702_764dup (p.Asp254_Asp255insGluGluAspGluAspGluGluGluGluLeuLeuGluAspAspGluGluGluLeuLeuGluAsp)
| gnomAD v4 |
X | g.25013263_25013325del | CA658799627 | ARX | c.702_764del (p.Glu234_Asp254del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013232C>A | CA412612473 | ARX | c.763G>T (p.Asp255Tyr)
| gnomAD v4 |
X | g.25013232C>G | CA412612474 | ARX | c.763G>C (p.Asp255His)
| |
X | g.25013232C>T | CA412612475 | ARX | c.763G>A (p.Asp255Asn)
| gnomAD v4 |
X | g.25013233G>A | CA515947520 | ARX | c.762C>T (p.Asp254=)
| ClinVar gnomAD v4 |
X | g.25013233G>C | CA412612476 | ARX | c.762C>G (p.Asp254Glu)
| |
X | g.25013233G>T | CA412612477 | ARX | c.762C>A (p.Asp254Glu)
| gnomAD v4 |
X | g.25013234T>A | CA412612478 | ARX | c.761A>T (p.Asp254Val)
| |
X | g.25013234T>C | CA412612479 | ARX | c.761A>G (p.Asp254Gly)
| dbSNP |
X | g.25013234T>G | CA412612480 | ARX | c.761A>C (p.Asp254Ala)
| |
X | g.25013234T= | CA2420209174 | ARX | c.761A= (p.Asp254=)
| |
X | g.25013235C>A | CA412612481 | ARX | c.760G>T (p.Asp254Tyr)
| |
X | g.25013235C>G | CA412612482 | ARX | c.760G>C (p.Asp254His)
| |
X | g.25013235C>T | CA412612483 | ARX | c.760G>A (p.Asp254Asn)
| |
X | g.25013236C>A | CA412612484 | ARX | c.759G>T (p.Glu253Asp)
| gnomAD v4 |
X | g.25013236C>G | CA412612485 | ARX | c.759G>C (p.Glu253Asp)
| |
X | g.25013236C>T | CA515947530 | ARX | c.759G>A (p.Glu253=)
| |
X | g.25013237T>A | CA412612486 | ARX | c.758A>T (p.Glu253Val)
| |
X | g.25013237T>C | CA412612487 | ARX | c.758A>G (p.Glu253Gly)
| gnomAD v4 |
X | g.25013237T>G | CA412612488 | ARX | c.758A>C (p.Glu253Ala)
| |
X | g.25013238C>A | CA412612489 | ARX | c.757G>T (p.Glu253Ter)
| |
X | g.25013238C= | CA2420209175 | ARX | c.757G= (p.Glu253=)
| |
X | g.25013238C>G | CA412612490 | ARX | c.757G>C (p.Glu253Gln)
| dbSNP |
X | g.25013238C>T | CA412612491 | ARX | c.757G>A (p.Glu253Lys)
| gnomAD v4 |
X | g.25013239C>A | CA515947540 | ARX | c.756G>T (p.Leu252=)
| |
X | g.25013239C>G | CA515947542 | ARX | c.756G>C (p.Leu252=)
| ClinVar gnomAD v3 gnomAD v4 |
X | g.25013239C>T | CA515947543 | ARX | c.756G>A (p.Leu252=)
| |
X | g.25013240A= | CA2420209176 | ARX | c.755T= (p.Leu252=)
| |
X | g.25013240A>C | CA412612492 | ARX | c.755T>G (p.Leu252Arg)
| |
X | g.25013240A>G | CA10373882 | ARX | c.755T>C (p.Leu252Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013240A>T | CA412612493 | ARX | c.755T>A (p.Leu252Gln)
| |
X | g.25013241G>A | CA515947551 | ARX | c.754C>T (p.Leu252=)
| |
X | g.25013241G>C | CA412612494 | ARX | c.754C>G (p.Leu252Val)
| |
X | g.25013241G>T | CA412612495 | ARX | c.754C>A (p.Leu252Met)
| gnomAD v4 |
X | g.25013242C>A | CA515947552 | ARX | c.753G>T (p.Leu251=)
| |
X | g.25013242C>G | CA515947553 | ARX | c.753G>C (p.Leu251=)
| |
X | g.25013242C>T | CA515947554 | ARX | c.753G>A (p.Leu251=)
| |
X | g.25013243A>C | CA412612497 | ARX | c.752T>G (p.Leu251Arg)
| |
X | g.25013243A>G | CA412612498 | ARX | c.752T>C (p.Leu251Pro)
| |
X | g.25013243A>T | CA412612496 | ARX | c.752T>A (p.Leu251Gln)
| |
X | g.25013244G>A | CA515947562 | ARX | c.751C>T (p.Leu251=)
| gnomAD v4 |
X | g.25013244G>C | CA412612499 | ARX | c.751C>G (p.Leu251Val)
| |
X | g.25013244G>T | CA412612500 | ARX | c.751C>A (p.Leu251Met)
| gnomAD v4 |
X | g.25013245C>A | CA412612501 | ARX | c.750G>T (p.Glu250Asp)
| gnomAD v4 |
X | g.25013245C= | CA2420209178 | ARX | c.750G= (p.Glu250=)
| |
X | g.25013245C>G | CA412612502 | ARX | c.750G>C (p.Glu250Asp)
| |
X | g.25013245C>T | CA515947566 | ARX | c.750G>A (p.Glu250=)
| dbSNP |
X | g.25013245_25013269delinsCTCCTCCTCGTCGTCCTCCAGCAGT | CA2420209177 | ARX | c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG (p.Glu242=)
| |
X | g.25013246T>A | CA412612503 | ARX | c.749A>T (p.Glu250Val)
| |
X | g.25013246T>C | CA412612504 | ARX | c.749A>G (p.Glu250Gly)
| |
X | g.25013246T>G | CA412612505 | ARX | c.749A>C (p.Glu250Ala)
| |
X | g.25013251_25013274del | CA1131757043 | ARX | c.726_749del (p.Leu243_Glu250del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013247C>A | CA412612506 | ARX | c.748G>T (p.Glu250Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013247C= | CA2420209179 | ARX | c.748G= (p.Glu250=)
| |
X | g.25013247C>G | CA412612507 | ARX | c.748G>C (p.Glu250Gln)
| |
X | g.25013247C>T | CA412612508 | ARX | c.748G>A (p.Glu250Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013248C>A | CA412612509 | ARX | c.747G>T (p.Glu249Asp)
| |
X | g.25013248C= | CA2420209180 | ARX | c.747G= (p.Glu249=)
| |
X | g.25013248C>G | CA412612510 | ARX | c.747G>C (p.Glu249Asp)
| |
X | g.25013248C>T | CA209987 | ARX | c.747G>A (p.Glu249=)
| ClinVar dbSNP |
X | g.25013249T>A | CA412612513 | ARX | c.746A>T (p.Glu249Val)
| |
X | g.25013249T>C | CA412612512 | ARX | c.746A>G (p.Glu249Gly)
| |
X | g.25013249T>G | CA412612511 | ARX | c.746A>C (p.Glu249Ala)
| |
X | g.25013250C>A | CA412612514 | ARX | c.745G>T (p.Glu249Ter)
| |
X | g.25013250C= | CA2420209181 | ARX | c.745G= (p.Glu249=)
| |
X | g.25013250C>G | CA412612515 | ARX | c.745G>C (p.Glu249Gln)
| |
X | g.25013250C>T | CA327733048 | ARX | c.745G>A (p.Glu249Lys)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013251C>A | CA412612516 | ARX | c.744G>T (p.Glu248Asp)
| gnomAD v4 |
X | g.25013251C= | CA2420209182 | ARX | c.744G= (p.Glu248=)
| |
X | g.25013251C>G | CA412612517 | ARX | c.744G>C (p.Glu248Asp)
| |
X | g.25013251C>T | CA515947578 | ARX | c.744G>A (p.Glu248=)
| dbSNP |
X | g.25013252T>A | CA412612518 | ARX | c.743A>T (p.Glu248Val)
| |
X | g.25013252T>C | CA412612519 | ARX | c.743A>G (p.Glu248Gly)
| |
X | g.25013252T>G | CA412612520 | ARX | c.743A>C (p.Glu248Ala)
| |
X | g.25013253C>A | CA412612521 | ARX | c.742G>T (p.Glu248Ter)
| |
X | g.25013253C= | CA2420209183 | ARX | c.742G= (p.Glu248=)
| |
X | g.25013253C>G | CA412612522 | ARX | c.742G>C (p.Glu248Gln)
| ClinVar dbSNP |
X | g.25013253C>T | CA412612523 | ARX | c.742G>A (p.Glu248Lys)
| |
X | g.25013254G>A | CA515947585 | ARX | c.741C>T (p.Asp247=)
| gnomAD v4 |
X | g.25013254G>C | CA412612524 | ARX | c.741C>G (p.Asp247Glu)
| dbSNP gnomAD v4 |
X | g.25013254G= | CA2420209184 | ARX | c.741C= (p.Asp247=)
| |
X | g.25013254G>T | CA412612525 | ARX | c.741C>A (p.Asp247Glu)
| gnomAD v4 |
X | g.25013255T>A | CA412612527 | ARX | c.740A>T (p.Asp247Val)
| |
X | g.25013255T>C | CA10373883 | ARX | c.740A>G (p.Asp247Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013255T>G | CA412612526 | ARX | c.740A>C (p.Asp247Ala)
| |
X | g.25013255T= | CA2420209185 | ARX | c.740A= (p.Asp247=)
| |
X | g.25013256C>A | CA412612528 | ARX | c.739G>T (p.Asp247Tyr)
| |
X | g.25013256C= | CA2420209186 | ARX | c.739G= (p.Asp247=)
| |
X | g.25013256C>G | CA10373884 | ARX | c.739G>C (p.Asp247His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013256C>T | CA412612529 | ARX | c.739G>A (p.Asp247Asn)
| dbSNP gnomAD v2 |
X | g.25013257G>A | CA10373885 | ARX | c.738C>T (p.Asp246=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013257G>C | CA412612531 | ARX | c.738C>G (p.Asp246Glu)
| dbSNP gnomAD v4 |
X | g.25013257G= | CA2420209187 | ARX | c.738C= (p.Asp246=)
| |
X | g.25013257G>T | CA412612530 | ARX | c.738C>A (p.Asp246Glu)
| gnomAD v4 |
X | g.25013258T>A | CA412612532 | ARX | c.737A>T (p.Asp246Val)
| |
X | g.25013258T>C | CA412612533 | ARX | c.737A>G (p.Asp246Gly)
| dbSNP gnomAD v2 |
X | g.25013258T>G | CA412612534 | ARX | c.737A>C (p.Asp246Ala)
| |
X | g.25013258T= | CA2420209188 | ARX | c.737A= (p.Asp246=)
| |
X | g.25013259C>A | CA412612535 | ARX | c.736G>T (p.Asp246Tyr)
| gnomAD v4 |
X | g.25013259C>G | CA412612536 | ARX | c.736G>C (p.Asp246His)
| |
X | g.25013259C>T | CA412612537 | ARX | c.736G>A (p.Asp246Asn)
| |
X | g.25013260C>A | CA412612538 | ARX | c.735G>T (p.Glu245Asp)
| gnomAD v4 |
X | g.25013260C>G | CA412612539 | ARX | c.735G>C (p.Glu245Asp)
| |
X | g.25013260C>T | CA515947597 | ARX | c.735G>A (p.Glu245=)
| |
X | g.25013261T>A | CA412612540 | ARX | c.734A>T (p.Glu245Val)
| |
X | g.25013261T>C | CA412612541 | ARX | c.734A>G (p.Glu245Gly)
| |
X | g.25013261T>G | CA412612542 | ARX | c.734A>C (p.Glu245Ala)
| |
X | g.25013262C>A | CA412612545 | ARX | c.733G>T (p.Glu245Ter)
| gnomAD v4 |
X | g.25013262C>G | CA412612543 | ARX | c.733G>C (p.Glu245Gln)
| |
X | g.25013262C>T | CA412612544 | ARX | c.733G>A (p.Glu245Lys)
| |
X | g.25013263C>A | CA515947602 | ARX | c.732G>T (p.Leu244=)
| |
X | g.25013263C= | CA2420209189 | ARX | c.732G= (p.Leu244=)
| |
X | g.25013263C>G | CA515947603 | ARX | c.732G>C (p.Leu244=)
| |
X | g.25013263C>T | CA515947604 | ARX | c.732G>A (p.Leu244=)
| dbSNP |
X | g.25013264A>C | CA412612546 | ARX | c.731T>G (p.Leu244Arg)
| |
X | g.25013264A>G | CA412612547 | ARX | c.731T>C (p.Leu244Pro)
| ClinVar |
X | g.25013264A>T | CA412612548 | ARX | c.731T>A (p.Leu244Gln)
| |