Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240875923C= | CA1339334627 | AGXT | c.777-12C= (n.777-12C=) n.429-12C= | |
2 | g.240875923C>G | CA766965482 | AGXT | c.777-12C>G (n.777-12C>G) n.429-12C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875923C>T | CA2209254 | AGXT | c.777-12C>T (n.777-12C>T) n.429-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875924G>A | CA2209255 | AGXT | c.777-11G>A (n.777-11G>A) n.429-11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875924G>C | CA2740096545 | AGXT | c.777-11G>C (n.777-11G>C) n.429-11G>C | ClinVar |
2 | g.240875924G= | CA1339334628 | AGXT | c.777-11G= (n.777-11G=) n.429-11G= | |
2 | g.240875924G>T | CA2209256 | AGXT | c.777-11G>T (n.777-11G>T) n.429-11G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875926_240875927del | CA2580614121 | AGXT | c.777-9_777-8del (n.777-9_777-8del) n.429-9_429-8del | ClinVar dbSNP |
2 | g.240875926G>A | CA2577302703 | AGXT | c.777-9G>A (n.777-9G>A) n.429-9G>A | |
2 | g.240875927T>C | CA2499215814 | AGXT | c.777-8T>C (n.777-8T>C) n.429-8T>C | ClinVar dbSNP |
2 | g.240875928C>T | CA2664009509 | AGXT | c.777-7C>T (n.777-7C>T) n.429-7C>T | gnomAD v4 |
2 | g.240875929T>G | CA2664009511 | AGXT | c.777-6T>G (n.777-6T>G) n.429-6T>G | gnomAD v4 |
2 | g.240875930T>C | CA2577302704 | AGXT | c.777-5T>C (n.777-5T>C) n.429-5T>C | |
2 | g.240875930T>G | CA2209257 | AGXT | c.777-5T>G (n.777-5T>G) n.429-5T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875930T= | CA1339334629 | AGXT | c.777-5T= (n.777-5T=) n.429-5T= | |
2 | g.240875931C>A | CA2664009517 | AGXT | c.777-4C>A (n.777-4C>A) n.429-4C>A | gnomAD v4 |
2 | g.240875931C= | CA1339334630 | AGXT | c.777-4C= (n.777-4C=) n.429-4C= | |
2 | g.240875931C>G | CA2209258 | AGXT | c.777-4C>G (n.777-4C>G) n.429-4C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875931C>T | CA2209259 | AGXT | c.777-4C>T (n.777-4C>T) n.429-4C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875931_240875932delinsTT | CA2580068040 | AGXT | c.777-4_777-3delinsTT (n.777-4_777-3delinsTT) n.429-4_429-3delinsTT | ClinVar |
2 | g.240875932C= | CA1339334631 | AGXT | c.777-3C= (n.777-3C=) n.429-3C= | |
2 | g.240875932C>T | CA2209260 | AGXT | c.777-3C>T (n.777-3C>T) n.429-3C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875933A= | CA1339334632 | AGXT | c.777-2A= (n.777-2A=) n.429-2A= | |
2 | g.240875933A>C | CA351318280 | AGXT | c.777-2A>C (n.777-2A>C) n.429-2A>C | |
2 | g.240875933A>G | CA275807 | AGXT | c.777-2A>G (n.777-2A>G) n.429-2A>G | ClinVar dbSNP COSMIC |
2 | g.240875933A>T | CA351318281 | AGXT | c.777-2A>T (n.777-2A>T) n.429-2A>T | |
2 | g.240875934G>A | CA351318282 | AGXT | c.777-1G>A (n.777-1G>A) n.429-1G>A | |
2 | g.240875934G>C | CA273941 | AGXT | c.777-1G>C (n.777-1G>C) n.429-1G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875934G= | CA1339334633 | AGXT | c.777-1G= (n.777-1G=) n.429-1G= | |
2 | g.240875934G>T | CA351318283 | AGXT | c.777-1G>T (n.777-1G>T) n.429-1G>T | |
2 | g.240875935G>A | CA351318284 | AGXT | c.777G>A (p.Met259Ile) n.429G>A | COSMIC |
2 | g.240875935G>C | CA351318285 | AGXT | c.777G>C (p.Met259Ile) n.429G>C | |
2 | g.240875935G>T | CA351318286 | AGXT | c.777G>T (p.Met259Ile) n.429G>T | |
2 | g.240875936T>A | CA351318287 | AGXT | c.778T>A (p.Tyr260Asn) n.430T>A | |
2 | g.240875936T>C | CA351318288 | AGXT | c.778T>C (p.Tyr260His) n.430T>C | gnomAD v4 |
2 | g.240875936T>G | CA351318289 | AGXT | c.778T>G (p.Tyr260Asp) n.430T>G | |
2 | g.240875937A= | CA1339334634 | AGXT | c.779A= (p.Tyr260=) n.431A= | |
2 | g.240875937A>C | CA351318290 | AGXT | c.779A>C (p.Tyr260Ser) n.431A>C | |
2 | g.240875937A>G | CA351318292 | AGXT | c.779A>G (p.Tyr260Cys) n.431A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875937A>T | CA351318291 | AGXT | c.779A>T (p.Tyr260Phe) n.431A>T | |
2 | g.240875938C>A | CA351318293 | AGXT | c.780C>A (p.Tyr260Ter) n.432C>A | |
2 | g.240875938C>G | CA351318294 | AGXT | c.780C>G (p.Tyr260Ter) n.432C>G | |
2 | g.240875938C>T | CA432024521 | AGXT | c.780C>T (p.Tyr260=) n.432C>T | |
2 | g.240875939C>A | CA351318295 | AGXT | c.781C>A (p.His261Asn) n.433C>A | |
2 | g.240875939C= | CA1339334635 | AGXT | c.781C= (p.His261=) n.433C= | |
2 | g.240875939C>G | CA351318296 | AGXT | c.781C>G (p.His261Asp) n.433C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875939C>T | CA2209261 | AGXT | c.781C>T (p.His261Tyr) n.433C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875940A>C | CA351318297 | AGXT | c.782A>C (p.His261Pro) n.434A>C | |
2 | g.240875940A>G | CA351318298 | AGXT | c.782A>G (p.His261Arg) n.434A>G | |
2 | g.240875940A>T | CA351318299 | AGXT | c.782A>T (p.His261Leu) n.434A>T | |
2 | g.240875941T>A | CA275737 | AGXT | c.783T>A (p.His261Gln) n.435T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875941T>C | CA432024522 | AGXT | c.783T>C (p.His261=) n.435T>C | |
2 | g.240875941T>G | CA351318300 | AGXT | c.783T>G (p.His261Gln) n.435T>G | |
2 | g.240875941T= | CA1339334636 | AGXT | c.783T= (p.His261=) n.435T= | |
2 | g.240875942C>A | CA351318301 | AGXT | c.784C>A (p.His262Asn) n.436C>A | |
2 | g.240875942C>G | CA351318302 | AGXT | c.784C>G (p.His262Asp) n.436C>G | |
2 | g.240875942C>T | CA351318303 | AGXT | c.784C>T (p.His262Tyr) n.436C>T | |
2 | g.240875943A>C | CA351318304 | AGXT | c.785A>C (p.His262Pro) n.437A>C | |
2 | g.240875943A>G | CA351318306 | AGXT | c.785A>G (p.His262Arg) n.437A>G | |
2 | g.240875943A>T | CA351318305 | AGXT | c.785A>T (p.His262Leu) n.437A>T | |
2 | g.240875944C>A | CA351318307 | AGXT | c.786C>A (p.His262Gln) n.438C>A | gnomAD v4 |
2 | g.240875944C>G | CA351318308 | AGXT | c.786C>G (p.His262Gln) n.438C>G | |
2 | g.240875944C>T | CA432024526 | AGXT | c.786C>T (p.His262=) n.438C>T | |
2 | g.240875945A>C | CA351318309 | AGXT | c.787A>C (p.Thr263Pro) n.439A>C | |
2 | g.240875945A>G | CA351318310 | AGXT | c.787A>G (p.Thr263Ala) n.439A>G | |
2 | g.240875945A>T | CA351318311 | AGXT | c.787A>T (p.Thr263Ser) n.439A>T | |
2 | g.240875946C>A | CA351318312 | AGXT | c.788C>A (p.Thr263Lys) n.440C>A | |
2 | g.240875946C>G | CA351318313 | AGXT | c.788C>G (p.Thr263Arg) n.440C>G | |
2 | g.240875946C>T | CA351318314 | AGXT | c.788C>T (p.Thr263Ile) n.440C>T | dbSNP |
2 | g.240875947A= | CA1339334637 | AGXT | c.789A= (p.Thr263=) n.441A= | |
2 | g.240875947A>C | CA2209262 | AGXT | c.789A>C (p.Thr263=) n.441A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875947A>G | CA2209263 | AGXT | c.789A>G (p.Thr263=) n.441A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875947A>T | CA432024534 | AGXT | c.789A>T (p.Thr263=) n.441A>T | |
2 | g.240875948A>C | CA351318316 | AGXT | c.790A>C (p.Ile264Leu) n.442A>C | |
2 | g.240875948A>G | CA351318317 | AGXT | c.790A>G (p.Ile264Val) n.442A>G | ClinVar |
2 | g.240875948A>T | CA351318315 | AGXT | c.790A>T (p.Ile264Phe) n.442A>T | |
2 | g.240875949T>A | CA351318320 | AGXT | c.791T>A (p.Ile264Asn) n.443T>A | gnomAD v4 |
2 | g.240875949T>C | CA351318318 | AGXT | c.791T>C (p.Ile264Thr) n.443T>C | |
2 | g.240875949T>G | CA351318319 | AGXT | c.791T>G (p.Ile264Ser) n.443T>G | |
2 | g.240875950C>A | CA432024541 | AGXT | c.792C>A (p.Ile264=) n.444C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875950C= | CA1339334638 | AGXT | c.792C= (p.Ile264=) n.444C= | |
2 | g.240875950C>G | CA351318321 | AGXT | c.792C>G (p.Ile264Met) n.444C>G | |
2 | g.240875950C>T | CA432024540 | AGXT | c.792C>T (p.Ile264=) n.444C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875953del | CA2499215815 | AGXT | c.795del (p.Val266SerfsTer7) n.447del | ClinVar dbSNP gnomAD v4 |
2 | g.240875951C>A | CA351318322 | AGXT | c.793C>A (p.Pro265Thr) n.445C>A | |
2 | g.240875951C= | CA1339334639 | AGXT | c.793C= (p.Pro265=) n.445C= | |
2 | g.240875951C>G | CA351318323 | AGXT | c.793C>G (p.Pro265Ala) n.445C>G | |
2 | g.240875951C>T | CA2209264 | AGXT | c.793C>T (p.Pro265Ser) n.445C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875952C>A | CA351318324 | AGXT | c.794C>A (p.Pro265His) n.446C>A | |
2 | g.240875952C>G | CA351318325 | AGXT | c.794C>G (p.Pro265Arg) n.446C>G | |
2 | g.240875952C>T | CA351318326 | AGXT | c.794C>T (p.Pro265Leu) n.446C>T | |
2 | g.240875953C>A | CA432024548 | AGXT | c.795C>A (p.Pro265=) n.447C>A | |
2 | g.240875953C= | CA1339334640 | AGXT | c.795C= (p.Pro265=) n.447C= | |
2 | g.240875953C>G | CA432024545 | AGXT | c.795C>G (p.Pro265=) n.447C>G | ClinVar dbSNP |
2 | g.240875953C>T | CA2209265 | AGXT | c.795C>T (p.Pro265=) n.447C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875954G>A | CA2209266 | AGXT | c.796G>A (p.Val266Ile) n.448G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875954G>C | CA351318327 | AGXT | c.796G>C (p.Val266Leu) n.448G>C | |
2 | g.240875954G= | CA1339334641 | AGXT | c.796G= (p.Val266=) n.448G= | |
2 | g.240875954G>T | CA351318328 | AGXT | c.796G>T (p.Val266Phe) n.448G>T | |
2 | g.240875955T>A | CA351318329 | AGXT | c.797T>A (p.Val266Asp) n.449T>A | |
2 | g.240875955T>C | CA2209267 | AGXT | c.797T>C (p.Val266Ala) n.449T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875955T>G | CA351318330 | AGXT | c.797T>G (p.Val266Gly) n.449T>G | |
2 | g.240875955T= | CA1339334643 | AGXT | c.797T= (p.Val266=) n.449T= | |
2 | g.240875955_240875960delinsTCATCA | CA1339334642 | AGXT | c.797_802delinsTCATCA (p.Val266=) n.449_454delinsTCATCA | |
2 | g.240875955_240875956insA | CA2664009566 | AGXT | c.797_798insA (p.Ile267HisfsTer?) n.449_450insA | gnomAD v4 |
2 | g.240875956C>A | CA432024554 | AGXT | c.798C>A (p.Val266=) n.450C>A | |
2 | g.240875956C>G | CA432024555 | AGXT | c.798C>G (p.Val266=) n.450C>G | COSMIC |
2 | g.240875956C>T | CA432024556 | AGXT | c.798C>T (p.Val266=) n.450C>T | gnomAD v4 COSMIC |
2 | g.240875956_240875960del | CA2586971642 | AGXT | c.798_802del (p.Ile267ProfsTer?) n.450_454del | |
2 | g.240875956_240875960delinsACAATCTCAG | CA275853 | AGXT | c.798_802delinsACAATCTCAG (p.Ile267GlnfsTer8) n.450_454delinsACAATCTCAG | ClinVar dbSNP |
2 | g.240875957A= | CA1339334644 | AGXT | c.799A= (p.Ile267=) n.451A= | |
2 | g.240875957A>C | CA351318331 | AGXT | c.799A>C (p.Ile267Leu) n.451A>C | |
2 | g.240875957A>G | CA351318332 | AGXT | c.799A>G (p.Ile267Val) n.451A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875957A>T | CA351318333 | AGXT | c.799A>T (p.Ile267Phe) n.451A>T | ClinVar |
2 | g.240875957_240875958insATC | CA2664009573 | AGXT | c.799_800insATC (p.Ile267delinsAsnLeu) n.451_452insATC | gnomAD v4 |
2 | g.240875958T>A | CA351318334 | AGXT | c.800T>A (p.Ile267Asn) n.452T>A | |
2 | g.240875958T>C | CA351318335 | AGXT | c.800T>C (p.Ile267Thr) n.452T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875958T>G | CA351318336 | AGXT | c.800T>G (p.Ile267Ser) n.452T>G | |
2 | g.240875958T= | CA1339334645 | AGXT | c.800T= (p.Ile267=) n.452T= | |
2 | g.240875959C>A | CA432024560 | AGXT | c.801C>A (p.Ile267=) n.453C>A | |
2 | g.240875959C>G | CA351318337 | AGXT | c.801C>G (p.Ile267Met) n.453C>G | |
2 | g.240875959C>T | CA432024561 | AGXT | c.801C>T (p.Ile267=) n.453C>T | |
2 | g.240875960A>C | CA351318338 | AGXT | c.802A>C (p.Ser268Arg) n.454A>C | |
2 | g.240875960A>G | CA351318339 | AGXT | c.802A>G (p.Ser268Gly) n.454A>G | COSMIC |
2 | g.240875960A>T | CA351318340 | AGXT | c.802A>T (p.Ser268Cys) n.454A>T | |
2 | g.240875961G>A | CA351318343 | AGXT | c.803G>A (p.Ser268Asn) n.455G>A | gnomAD v4 |
2 | g.240875961G>C | CA351318342 | AGXT | c.803G>C (p.Ser268Thr) n.455G>C | |
2 | g.240875961G>T | CA351318341 | AGXT | c.803G>T (p.Ser268Ile) n.455G>T | |
2 | g.240875961dup | CA2664009578 | AGXT | c.803dup (p.Ser268ArgfsTer?) n.455dup | gnomAD v4 |
2 | g.240875962C>A | CA351318345 | AGXT | c.804C>A (p.Ser268Arg) n.456C>A | |
2 | g.240875962C= | CA1339334646 | AGXT | c.804C= (p.Ser268=) n.456C= | |
2 | g.240875962C>G | CA351318344 | AGXT | c.804C>G (p.Ser268Arg) n.456C>G | |
2 | g.240875962C>T | CA2209268 | AGXT | c.804C>T (p.Ser268=) n.456C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875963C>A | CA351318346 | AGXT | c.805C>A (p.Leu269Met) n.457C>A | |
2 | g.240875963C= | CA1339334647 | AGXT | c.805C= (p.Leu269=) n.457C= | |
2 | g.240875963C>G | CA351318347 | AGXT | c.805C>G (p.Leu269Val) n.457C>G | |
2 | g.240875963C>T | CA2209269 | AGXT | c.805C>T (p.Leu269=) n.457C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875964T>A | CA351318348 | AGXT | c.806T>A (p.Leu269Gln) n.458T>A | |
2 | g.240875964T>C | CA275739 | AGXT | c.806T>C (p.Leu269Pro) n.458T>C | ClinVar dbSNP |
2 | g.240875964T>G | CA351318349 | AGXT | c.806T>G (p.Leu269Arg) n.458T>G | |
2 | g.240875964T= | CA1339334648 | AGXT | c.806T= (p.Leu269=) n.458T= | |
2 | g.240875965G>A | CA432024569 | AGXT | c.807G>A (p.Leu269=) n.459G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875965G>C | CA68180071 | AGXT | c.807G>C (p.Leu269=) n.459G>C | ClinVar dbSNP gnomAD v4 |
2 | g.240875965G= | CA1339334649 | AGXT | c.807G= (p.Leu269=) n.459G= | |
2 | g.240875965G>T | CA432024570 | AGXT | c.807G>T (p.Leu269=) n.459G>T | |
2 | g.240875965dup | CA2586971643 | AGXT | c.807dup (p.Tyr270ValfsTer?) n.459dup | ClinVar |
2 | g.240875966T>A | CA351318350 | AGXT | c.808T>A (p.Tyr270Asn) n.460T>A | |
2 | g.240875966T>C | CA351318351 | AGXT | c.808T>C (p.Tyr270His) n.460T>C | dbSNP |
2 | g.240875966T>G | CA351318352 | AGXT | c.808T>G (p.Tyr270Asp) n.460T>G | |
2 | g.240875966T= | CA1339334650 | AGXT | c.808T= (p.Tyr270=) n.460T= | |
2 | g.240875967A= | CA1339334651 | AGXT | c.809A= (p.Tyr270=) n.461A= | |
2 | g.240875967A>C | CA351318353 | AGXT | c.809A>C (p.Tyr270Ser) n.461A>C | |
2 | g.240875967A>G | CA2209270 | AGXT | c.809A>G (p.Tyr270Cys) n.461A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875967A>T | CA351318354 | AGXT | c.809A>T (p.Tyr270Phe) n.461A>T | gnomAD v4 |
2 | g.240875968C>A | CA351318355 | AGXT | c.810C>A (p.Tyr270Ter) n.462C>A | |
2 | g.240875968C= | CA1339334652 | AGXT | c.810C= (p.Tyr270=) n.462C= | |
2 | g.240875968C>G | CA351318356 | AGXT | c.810C>G (p.Tyr270Ter) n.462C>G | |
2 | g.240875968C>T | CA432024577 | AGXT | c.810C>T (p.Tyr270=) n.462C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875969A>C | CA351318357 | AGXT | c.811A>C (p.Ser271Arg) n.463A>C | |
2 | g.240875969A>G | CA351318358 | AGXT | c.811A>G (p.Ser271Gly) n.463A>G | |
2 | g.240875969A>T | CA351318359 | AGXT | c.811A>T (p.Ser271Cys) n.463A>T | |
2 | g.240875970G>A | CA351318360 | AGXT | c.812G>A (p.Ser271Asn) n.464G>A | gnomAD v4 |
2 | g.240875970G>C | CA351318361 | AGXT | c.812G>C (p.Ser271Thr) n.464G>C | |
2 | g.240875970G>T | CA351318362 | AGXT | c.812G>T (p.Ser271Ile) n.464G>T | |
2 | g.240875971C>A | CA351318363 | AGXT | c.813C>A (p.Ser271Arg) n.465C>A | |
2 | g.240875971C>G | CA351318364 | AGXT | c.813C>G (p.Ser271Arg) n.465C>G | |
2 | g.240875971C>T | CA432024586 | AGXT | c.813C>T (p.Ser271=) n.465C>T | |
2 | g.240875972C>A | CA351318365 | AGXT | c.814C>A (p.Leu272Met) n.466C>A | |
2 | g.240875972C= | CA1339334653 | AGXT | c.814C= (p.Leu272=) n.466C= | |
2 | g.240875972C>G | CA351318366 | AGXT | c.814C>G (p.Leu272Val) n.466C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875972C>T | CA432024588 | AGXT | c.814C>T (p.Leu272=) n.466C>T | |
2 | g.240875973T>A | CA351318367 | AGXT | c.815T>A (p.Leu272Gln) n.467T>A | |
2 | g.240875973T>C | CA351318368 | AGXT | c.815T>C (p.Leu272Pro) n.467T>C | ClinVar |
2 | g.240875973T>G | CA351318369 | AGXT | c.815T>G (p.Leu272Arg) n.467T>G | |
2 | g.240875973_240875975delinsTGA | CA1339334654 | AGXT | c.815_817delinsTGA (p.Leu272=) n.467_469delinsTGA | |
2 | g.240875974G>A | CA432024592 | AGXT | c.816G>A (p.Leu272=) n.468G>A | |
2 | g.240875974G>C | CA432024595 | AGXT | c.816G>C (p.Leu272=) n.468G>C | |
2 | g.240875974G>T | CA432024597 | AGXT | c.816G>T (p.Leu272=) n.468G>T | |
2 | g.240875981_240875982dup | CA275854 | AGXT | c.823_824dup (p.Ser275ArgfsTer?) n.475_476dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875981_240875982del | CA540537272 | AGXT | c.823_824del (p.Ser275ProfsTer?) n.475_476del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875975A>C | CA432024600 | AGXT | c.817A>C (p.Arg273=) n.469A>C | |
2 | g.240875975A>G | CA351318371 | AGXT | c.817A>G (p.Arg273Gly) n.469A>G | gnomAD v4 |
2 | g.240875975A>T | CA351318370 | AGXT | c.817A>T (p.Arg273Ter) n.469A>T | |
2 | g.240875976G>A | CA351318372 | AGXT | c.818G>A (p.Arg273Lys) n.470G>A | |
2 | g.240875976G>C | CA351318373 | AGXT | c.818G>C (p.Arg273Thr) n.470G>C | gnomAD v4 |
2 | g.240875976G>T | CA351318374 | AGXT | c.818G>T (p.Arg273Ile) n.470G>T | |
2 | g.240875977A>C | CA351318375 | AGXT | c.819A>C (p.Arg273Ser) n.471A>C | |
2 | g.240875977A>G | CA432024602 | AGXT | c.819A>G (p.Arg273=) n.471A>G | |
2 | g.240875977A>T | CA351318376 | AGXT | c.819A>T (p.Arg273Ser) n.471A>T | |
2 | g.240875978G>A | CA351318377 | AGXT | c.820G>A (p.Glu274Lys) n.472G>A | |
2 | g.240875978G>C | CA351318378 | AGXT | c.820G>C (p.Glu274Gln) n.472G>C | |
2 | g.240875978G>T | CA351318379 | AGXT | c.820G>T (p.Glu274Ter) n.472G>T | |
2 | g.240875979A>C | CA351318380 | AGXT | c.821A>C (p.Glu274Ala) n.473A>C | |
2 | g.240875979A>G | CA351318381 | AGXT | c.821A>G (p.Glu274Gly) n.473A>G | |
2 | g.240875979A>T | CA351318382 | AGXT | c.821A>T (p.Glu274Val) n.473A>T | |
2 | g.240875980G>A | CA432024608 | AGXT | c.822G>A (p.Glu274=) n.474G>A | |
2 | g.240875980G>C | CA275741 | AGXT | c.822G>C (p.Glu274Asp) n.474G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875980G= | CA1339334655 | AGXT | c.822G= (p.Glu274=) n.474G= | |
2 | g.240875980G>T | CA351318383 | AGXT | c.822G>T (p.Glu274Asp) n.474G>T | |
2 | g.240875981A= | CA1339334656 | AGXT | c.823A= (p.Ser275=) n.475A= | |
2 | g.240875981A>C | CA275743 | AGXT | c.823A>C (p.Ser275Arg) n.475A>C | ClinVar dbSNP |
2 | g.240875981A>G | CA351318385 | AGXT | c.823A>G (p.Ser275Gly) n.475A>G | |
2 | g.240875981A>T | CA351318384 | AGXT | c.823A>T (p.Ser275Cys) n.475A>T | |
2 | g.240875982G>A | CA351318386 | AGXT | c.824G>A (p.Ser275Asn) n.476G>A | ClinVar dbSNP |
2 | g.240875982G>C | CA351318387 | AGXT | c.824G>C (p.Ser275Thr) n.476G>C | |
2 | g.240875982G= | CA1339334657 | AGXT | c.824G= (p.Ser275=) n.476G= | |
2 | g.240875982G>T | CA2209271 | AGXT | c.824G>T (p.Ser275Ile) n.476G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875983C>A | CA351318388 | AGXT | c.825C>A (p.Ser275Arg) n.477C>A | COSMIC |
2 | g.240875983C>G | CA351318389 | AGXT | c.825C>G (p.Ser275Arg) n.477C>G | |
2 | g.240875983C>T | CA432024642 | AGXT | c.825C>T (p.Ser275=) n.477C>T | |
2 | g.240875984C>A | CA351318391 | AGXT | c.826C>A (p.Leu276Met) n.478C>A | |
2 | g.240875984C>G | CA351318390 | AGXT | c.826C>G (p.Leu276Val) n.478C>G | |
2 | g.240875984C>T | CA432024643 | AGXT | c.826C>T (p.Leu276=) n.478C>T | |
2 | g.240875984_240875985delinsGA | CA2695197717 | AGXT | c.826_827delinsGA (p.Leu276Glu) n.478_479delinsGA | ClinVar |
2 | g.240875985T>A | CA351318392 | AGXT | c.827T>A (p.Leu276Gln) n.479T>A | ClinVar gnomAD v4 |
2 | g.240875985T>C | CA351318393 | AGXT | c.827T>C (p.Leu276Pro) n.479T>C | |
2 | g.240875985T>G | CA351318394 | AGXT | c.827T>G (p.Leu276Arg) n.479T>G | |
2 | g.240875986G>A | CA432024649 | AGXT | c.828G>A (p.Leu276=) n.480G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240875986G>C | CA432024651 | AGXT | c.828G>C (p.Leu276=) n.480G>C | |
2 | g.240875986G= | CA1339334659 | AGXT | c.828G= (p.Leu276=) n.480G= | |
2 | g.240875986G>T | CA432024652 | AGXT | c.828G>T (p.Leu276=) n.480G>T | |
2 | g.240875986_240875988delinsGGC | CA1339334658 | AGXT | c.828_830delinsGGC (p.Leu276=) n.480_482delinsGGC | |
2 | g.240875987G>A | CA351318395 | AGXT | c.829G>A (p.Ala277Thr) n.481G>A | |
2 | g.240875987G>C | CA351318396 | AGXT | c.829G>C (p.Ala277Pro) n.481G>C | |
2 | g.240875987G= | CA1339334660 | AGXT | c.829G= (p.Ala277=) n.481G= | |
2 | g.240875987G>T | CA351318397 | AGXT | c.829G>T (p.Ala277Ser) n.481G>T | |
2 | g.240875987_240875988delinsA | CA68180080 | AGXT | c.829_830delinsA (p.Ala277ThrfsTer?) n.481_482delinsA | dbSNP |
2 | g.240875987_240875988insA | CA352237 | AGXT | c.829_830insA (p.Ala277AspfsTer?) n.481_482insA | dbSNP |
2 | g.240875988C>A | CA352238 | AGXT | c.830C>A (p.Ala277Asp) n.482C>A | dbSNP |
2 | g.240875988C= | CA1339334661 | AGXT | c.830C= (p.Ala277=) n.482C= | |
2 | g.240875988C>G | CA351318399 | AGXT | c.830C>G (p.Ala277Gly) n.482C>G | |
2 | g.240875988C>T | CA351318398 | AGXT | c.830C>T (p.Ala277Val) n.482C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875988delinsAA | CA2695197718 | AGXT | c.830delinsAA (p.Ala277GlufsTer?) n.482delinsAA | ClinVar |
2 | g.240875990del | CA2499215816 | AGXT | c.832del (p.Leu278SerfsTer?) n.484del | ClinVar dbSNP |
2 | g.240875989C>A | CA432024667 | AGXT | c.831C>A (p.Ala277=) n.483C>A | |
2 | g.240875989C= | CA1339334662 | AGXT | c.831C= (p.Ala277=) n.483C= | |
2 | g.240875989C>G | CA432024670 | AGXT | c.831C>G (p.Ala277=) n.483C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875989C>T | CA432024671 | AGXT | c.831C>T (p.Ala277=) n.483C>T | |
2 | g.240875990C>A | CA351318400 | AGXT | c.832C>A (p.Leu278Ile) n.484C>A | |
2 | g.240875990C>G | CA351318401 | AGXT | c.832C>G (p.Leu278Val) n.484C>G | |
2 | g.240875990C>T | CA351318402 | AGXT | c.832C>T (p.Leu278Phe) n.484C>T | |
2 | g.240875991T>A | CA351318403 | AGXT | c.833T>A (p.Leu278His) n.485T>A | |
2 | g.240875991T>C | CA351318404 | AGXT | c.833T>C (p.Leu278Pro) n.485T>C | |
2 | g.240875991T>G | CA351318405 | AGXT | c.833T>G (p.Leu278Arg) n.485T>G | |
2 | g.240875991_240875992delinsTC | CA1339334663 | AGXT | c.833_834delinsTC (p.Leu278=) n.485_486delinsTC | |
2 | g.240875991_240875992insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC | CA2664009647 | AGXT | c.833_834insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC (p.Ile279ProfsTer?) n.485_486insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC | gnomAD v4 |
2 | g.240875992del | CA275855 | AGXT | c.834del (p.Ile279LeufsTer?) n.486del | ClinVar dbSNP |
2 | g.240875992C>A | CA432024680 | AGXT | c.834C>A (p.Leu278=) n.486C>A | |
2 | g.240875992C>G | CA432024679 | AGXT | c.834C>G (p.Leu278=) n.486C>G | |
2 | g.240875992C>T | CA432024678 | AGXT | c.834C>T (p.Leu278=) n.486C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240875993A>C | CA351318406 | AGXT | c.835A>C (p.Ile279Leu) n.487A>C | |
2 | g.240875993A>G | CA351318407 | AGXT | c.835A>G (p.Ile279Val) n.487A>G | gnomAD v4 |
2 | g.240875993A>T | CA351318408 | AGXT | c.835A>T (p.Ile279Phe) n.487A>T | |
2 | g.240875994T>A | CA351318410 | AGXT | c.836T>A (p.Ile279Asn) n.488T>A | |
2 | g.240875994T>C | CA203554 | AGXT | c.836T>C (p.Ile279Thr) n.488T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875994T>G | CA351318409 | AGXT | c.836T>G (p.Ile279Ser) n.488T>G | |
2 | g.240875994T= | CA1339334664 | AGXT | c.836T= (p.Ile279=) n.488T= | |
2 | g.240875995T>A | CA432024685 | AGXT | c.837T>A (p.Ile279=) n.489T>A | |
2 | g.240875995T>C | CA432024688 | AGXT | c.837T>C (p.Ile279=) n.489T>C | ClinVar gnomAD v4 |
2 | g.240875995T>G | CA275592 | AGXT | c.837T>G (p.Ile279Met) n.489T>G | ClinVar dbSNP |
2 | g.240875995T= | CA1339334665 | AGXT | c.837T= (p.Ile279=) n.489T= | |
2 | g.240875996del | CA2573051907 | AGXT | c.838del (p.Ala280ArgfsTer?) n.490del | ClinVar dbSNP |
2 | g.240875996G>A | CA351318411 | AGXT | c.838G>A (p.Ala280Thr) n.490G>A | |
2 | g.240875996G>C | CA351318412 | AGXT | c.838G>C (p.Ala280Pro) n.490G>C | |
2 | g.240875996G= | CA1339334666 | AGXT | c.838G= (p.Ala280=) n.490G= | |
2 | g.240875996G>T | CA2209272 | AGXT | c.838G>T (p.Ala280Ser) n.490G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875997C>A | CA2209273 | AGXT | c.839C>A (p.Ala280Glu) n.491C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240875997C= | CA1339334667 | AGXT | c.839C= (p.Ala280=) n.491C= | |
2 | g.240875997C>G | CA351318413 | AGXT | c.839C>G (p.Ala280Gly) n.491C>G | gnomAD v4 |
2 | g.240875997C>T | CA275593 | AGXT | c.839C>T (p.Ala280Val) n.491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875998G>A | CA2209274 | AGXT | c.840G>A (p.Ala280=) n.492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875998G>C | CA2209275 | AGXT | c.840G>C (p.Ala280=) n.492G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875998G= | CA1339334668 | AGXT | c.840G= (p.Ala280=) n.492G= | |
2 | g.240875998G>T | CA432024714 | AGXT | c.840G>T (p.Ala280=) n.492G>T | |
2 | g.240875999G>A | CA351318414 | AGXT | c.841G>A (p.Glu281Lys) n.493G>A | |
2 | g.240875999G>C | CA351318415 | AGXT | c.841G>C (p.Glu281Gln) n.493G>C | |
2 | g.240875999G= | CA1339334669 | AGXT | c.841G= (p.Glu281=) n.493G= | |
2 | g.240875999G>T | CA351318416 | AGXT | c.841G>T (p.Glu281Ter) n.493G>T | ClinVar dbSNP |
2 | g.240876000A>C | CA351318419 | AGXT | c.842A>C (p.Glu281Ala) n.494A>C | |
2 | g.240876000A>G | CA351318418 | AGXT | c.842A>G (p.Glu281Gly) n.494A>G | |
2 | g.240876000A>T | CA351318417 | AGXT | c.842A>T (p.Glu281Val) n.494A>T | |
2 | g.240876001A>C | CA351318420 | AGXT | c.843A>C (p.Glu281Asp) n.495A>C | |
2 | g.240876001A>G | CA432024726 | AGXT | c.843A>G (p.Glu281=) n.495A>G | |
2 | g.240876001A>T | CA351318421 | AGXT | c.843A>T (p.Glu281Asp) n.495A>T | |
2 | g.240876002C>A | CA68180090 | AGXT | c.844C>A (p.Gln282Lys) n.496C>A | dbSNP gnomAD v4 |
2 | g.240876002C= | CA1339334670 | AGXT | c.844C= (p.Gln282=) n.496C= | |
2 | g.240876002C>G | CA351318422 | AGXT | c.844C>G (p.Gln282Glu) n.496C>G | |
2 | g.240876002C>T | CA275745 | AGXT | c.844C>T (p.Gln282Ter) n.496C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240876003A= | CA1339334671 | AGXT | c.845A= (p.Gln282=) n.497A= | |
2 | g.240876003A>C | CA351318423 | AGXT | c.845A>C (p.Gln282Pro) n.497A>C | |
2 | g.240876003A>G | CA275595 | AGXT | c.845A>G (p.Gln282Arg) n.497A>G | ClinVar dbSNP |
2 | g.240876003A>T | CA351318424 | AGXT | c.845A>T (p.Gln282Leu) n.497A>T | |
2 | g.240876004G>A | CA432024735 | AGXT | c.846G>A (p.Gln282=) n.498G>A | |
2 | g.240876004G>C | CA275748 | AGXT | c.846G>C (p.Gln282His) n.498G>C | ClinVar dbSNP |
2 | g.240876004G= | CA1339334672 | AGXT | c.846G= (p.Gln282=) n.498G= | |
2 | g.240876004G>T | CA351318425 | AGXT | c.846G>T (p.Gln282His) n.498G>T | |
2 | g.240876005G>A | CA275800 | AGXT | c.846+1G>A (n.846+1G>A) n.499G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240876005G>C | CA351318426 | AGXT | c.846+1G>C (n.846+1G>C) n.499G>C | |
2 | g.240876005G= | CA1339334673 | AGXT | c.846+1G= (n.846+1G=) n.499G= | |
2 | g.240876005G>T | CA275799 | AGXT | c.846+1G>T (n.846+1G>T) n.499G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876006T>A | CA351318427 | AGXT | c.846+2T>A (n.846+2T>A) n.500T>A | |
2 | g.240876006T>C | CA351318428 | AGXT | c.846+2T>C (n.846+2T>C) n.500T>C | |
2 | g.240876006T>G | CA351318429 | AGXT | c.846+2T>G (n.846+2T>G) n.500T>G | |
2 | g.240876009A= | CA1339334674 | AGXT | c.846+5A= (n.846+5A=) n.503A= | |
2 | g.240876009A>C | CA540537344 | AGXT | c.846+5A>C (n.846+5A>C) n.503A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876009A>G | CA2209276 | AGXT | c.846+5A>G (n.846+5A>G) n.503A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876010T>A | CA2577302705 | AGXT | c.846+6T>A (n.846+6T>A) n.504T>A | gnomAD v4 |
2 | g.240876010T>C | CA2209277 | AGXT | c.846+6T>C (n.846+6T>C) n.504T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876010T= | CA1339334675 | AGXT | c.846+6T= (n.846+6T=) n.504T= | |
2 | g.240876011G>A | CA540537355 | AGXT | c.846+7G>A (n.846+7G>A) n.505G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876011G= | CA1339334676 | AGXT | c.846+7G= (n.846+7G=) n.505G= | |
2 | g.240876013G>A | CA1339334678 | AGXT | c.846+9G>A (n.846+9G>A) n.507G>A | dbSNP gnomAD v4 |
2 | g.240876013G= | CA1339334677 | AGXT | c.846+9G= (n.846+9G=) n.507G= | |
2 | g.240876014C>T | CA2697550621 | AGXT | c.846+10C>T (n.846+10C>T) | ClinVar |
2 | g.240876015T>G | CA2697550622 | AGXT | c.846+11T>G (n.846+11T>G) | ClinVar |
2 | g.240876016G>A | CA540537357 | AGXT | c.846+12G>A (n.846+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876016G= | CA1339334679 | AGXT | c.846+12G= (n.846+12G=) | |
2 | g.240876017C= | CA1339334680 | AGXT | c.846+13C= (n.846+13C=) | |
2 | g.240876017C>T | CA2209278 | AGXT | c.846+13C>T (n.846+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876018A= | CA1339334681 | AGXT | c.846+14A= (n.846+14A=) | |
2 | g.240876018A>C | CA2664009671 | AGXT | c.846+14A>C (n.846+14A>C) | gnomAD v4 |
2 | g.240876018A>G | CA2664009672 | AGXT | c.846+14A>G (n.846+14A>G) | gnomAD v4 |
2 | g.240876018A>T | CA1044069418 | AGXT | c.846+14A>T (n.846+14A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876019C= | CA1339334682 | AGXT | c.846+15C= (n.846+15C=) | |
2 | g.240876019C>G | CA2209279 | AGXT | c.846+15C>G (n.846+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240876019C>T | CA2664009673 | AGXT | c.846+15C>T (n.846+15C>T) | gnomAD v4 |
2 | g.240876020T>C | CA540537367 | AGXT | c.846+16T>C (n.846+16T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876020T= | CA1339334683 | AGXT | c.846+16T= (n.846+16T=) | |
2 | g.240876021C= | CA1339334684 | AGXT | c.846+17C= (n.846+17C=) | |
2 | g.240876021C>T | CA540537370 | AGXT | c.846+17C>T (n.846+17C>T) | dbSNP gnomAD v2 |
2 | g.240876022C= | CA1339334685 | AGXT | c.846+18C= (n.846+18C=) | |
2 | g.240876022C>T | CA2209280 | AGXT | c.846+18C>T (n.846+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |