| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78969106T>A | CA445103513 | ARSB | c.399A>T (p.Leu133=) n.470A>T | |
| 5 | g.78969106T>C | CA3318277 | ARSB | c.399A>G (p.Leu133=) n.470A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969106T>G | CA445103515 | ARSB | c.399A>C (p.Leu133=) n.470A>C | |
| 5 | g.78969106T= | CA1557703784 | ARSB | c.399A= (p.Leu133=) n.470A= | |
| 5 | g.78969107A>C | CA360194211 | ARSB | c.398T>G (p.Leu133Arg) n.469T>G | |
| 5 | g.78969107A>G | CA360194212 | ARSB | c.398T>C (p.Leu133Pro) n.469T>C | |
| 5 | g.78969107A>T | CA360194215 | ARSB | c.398T>A (p.Leu133Gln) n.469T>A | |
| 5 | g.78969108G>A | CA445103517 | ARSB | c.397C>T (p.Leu133=) n.468C>T | gnomAD v4 |
| 5 | g.78969108G>C | CA360194219 | ARSB | c.397C>G (p.Leu133Val) n.468C>G | |
| 5 | g.78969108G>T | CA360194221 | ARSB | c.397C>A (p.Leu133Ile) n.468C>A | |
| 5 | g.78969109G>A | CA445103519 | ARSB | c.396C>T (p.Leu132=) n.467C>T | |
| 5 | g.78969109G>C | CA121107922 | ARSB | c.396C>G (p.Leu132=) n.467C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969109G= | CA1557703785 | ARSB | c.396C= (p.Leu132=) n.467C= | |
| 5 | g.78969109G>T | CA445103520 | ARSB | c.396C>A (p.Leu132=) n.467C>A | gnomAD v4 |
| 5 | g.78969110A= | CA1557703786 | ARSB | c.395T= (p.Leu132=) n.466T= | |
| 5 | g.78969110A>C | CA360194223 | ARSB | c.395T>G (p.Leu132Arg) n.466T>G | |
| 5 | g.78969110A>G | CA360194228 | ARSB | c.395T>C (p.Leu132Pro) n.466T>C | ClinVar dbSNP |
| 5 | g.78969110A>T | CA360194225 | ARSB | c.395T>A (p.Leu132His) n.466T>A | gnomAD v4 |
| 5 | g.78969111G>A | CA360194229 | ARSB | c.394C>T (p.Leu132Phe) n.465C>T | |
| 5 | g.78969111G>C | CA360194230 | ARSB | c.394C>G (p.Leu132Val) n.465C>G | |
| 5 | g.78969111G>T | CA360194232 | ARSB | c.394C>A (p.Leu132Ile) n.465C>A | |
| 5 | g.78969112C>A | CA3318278 | ARSB | c.393G>T (p.Gln131His) n.464G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969112C= | CA1557703787 | ARSB | c.393G= (p.Gln131=) n.464G= | |
| 5 | g.78969112C>G | CA360194236 | ARSB | c.393G>C (p.Gln131His) n.464G>C | gnomAD v4 |
| 5 | g.78969112C>T | CA445103526 | ARSB | c.393G>A (p.Gln131=) n.464G>A | |
| 5 | g.78969113T>A | CA3318279 | ARSB | c.392A>T (p.Gln131Leu) n.463A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969113T>C | CA360194240 | ARSB | c.392A>G (p.Gln131Arg) n.463A>G | |
| 5 | g.78969113T>G | CA360194242 | ARSB | c.392A>C (p.Gln131Pro) n.463A>C | |
| 5 | g.78969113T= | CA1557703788 | ARSB | c.392A= (p.Gln131=) n.463A= | |
| 5 | g.78969114G>A | CA360194245 | ARSB | c.391C>T (p.Gln131Ter) n.462C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969114G>C | CA360194251 | ARSB | c.391C>G (p.Gln131Glu) n.462C>G | |
| 5 | g.78969114G= | CA1557703789 | ARSB | c.391C= (p.Gln131=) n.462C= | |
| 5 | g.78969114G>T | CA360194253 | ARSB | c.391C>A (p.Gln131Lys) n.462C>A | |
| 5 | g.78969115G>A | CA445103530 | ARSB | c.390C>T (p.Pro130=) n.461C>T | gnomAD v4 |
| 5 | g.78969115G>C | CA445103531 | ARSB | c.390C>G (p.Pro130=) n.461C>G | ClinVar |
| 5 | g.78969115G>T | CA445103532 | ARSB | c.390C>A (p.Pro130=) n.461C>A | |
| 5 | g.78969116G>A | CA360194254 | ARSB | c.389C>T (p.Pro130Leu) n.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969116G>C | CA360194256 | ARSB | c.389C>G (p.Pro130Arg) n.460C>G | |
| 5 | g.78969116G= | CA1557703790 | ARSB | c.389C= (p.Pro130=) n.460C= | |
| 5 | g.78969116G>T | CA360194255 | ARSB | c.389C>A (p.Pro130His) n.460C>A | |
| 5 | g.78969117G>A | CA3318280 | ARSB | c.388C>T (p.Pro130Ser) n.459C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969117G>C | CA360194257 | ARSB | c.388C>G (p.Pro130Ala) n.459C>G | |
| 5 | g.78969117G= | CA1557703791 | ARSB | c.388C= (p.Pro130=) n.459C= | |
| 5 | g.78969117G>T | CA360194258 | ARSB | c.388C>A (p.Pro130Thr) n.459C>A | dbSNP |
| 5 | g.78969118C>A | CA445103536 | ARSB | c.387G>T (p.Leu129=) n.458G>T | |
| 5 | g.78969118C= | CA1557703793 | ARSB | c.387G= (p.Leu129=) n.458G= | |
| 5 | g.78969118C>G | CA445103537 | ARSB | c.387G>C (p.Leu129=) n.458G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969118C>T | CA445103538 | ARSB | c.387G>A (p.Leu129=) n.458G>A | ClinVar dbSNP |
| 5 | g.78969118_78969121delinsCAGG | CA1557703792 | ARSB | c.384_387delinsCCTG (p.Leu128=) n.455_458delinsCCTG | |
| 5 | g.78969119A= | CA1557703795 | ARSB | c.386T= (p.Leu129=) n.457T= | |
| 5 | g.78969119A>C | CA360194259 | ARSB | c.386T>G (p.Leu129Arg) n.457T>G | |
| 5 | g.78969119A>G | CA360194260 | ARSB | c.386T>C (p.Leu129Pro) n.457T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969119A>T | CA360194261 | ARSB | c.386T>A (p.Leu129Gln) n.457T>A | |
| 5 | g.78969119_78969120delinsAG | CA1557703794 | ARSB | c.385_386delinsCT (p.Leu129=) n.456_457delinsCT | |
| 5 | g.78969121_78969123del | CA658822933 | ARSB | c.384_386del (p.Leu129del) n.455_457del | ClinVar dbSNP |
| 5 | g.78969120G>A | CA445103540 | ARSB | c.385C>T (p.Leu129=) n.456C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969120G>C | CA360194263 | ARSB | c.385C>G (p.Leu129Val) n.456C>G | dbSNP |
| 5 | g.78969120G= | CA1557703796 | ARSB | c.385C= (p.Leu129=) n.456C= | |
| 5 | g.78969120G>T | CA360194264 | ARSB | c.385C>A (p.Leu129Met) n.456C>A | |
| 5 | g.78969121del | CA1139658905 | ARSB | c.385del (p.Leu129CysfsTer5) n.456del | ClinVar dbSNP |
| 5 | g.78969121G>A | CA445103542 | ARSB | c.384C>T (p.Leu128=) n.455C>T | |
| 5 | g.78969121G>C | CA3318281 | ARSB | c.384C>G (p.Leu128=) n.455C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969121G= | CA1557703797 | ARSB | c.384C= (p.Leu128=) n.455C= | |
| 5 | g.78969121G>T | CA445103545 | ARSB | c.384C>A (p.Leu128=) n.455C>A | |
| 5 | g.78969122A>C | CA360194266 | ARSB | c.383T>G (p.Leu128Arg) n.454T>G | |
| 5 | g.78969122A>G | CA360194268 | ARSB | c.383T>C (p.Leu128Pro) n.454T>C | |
| 5 | g.78969122A>T | CA360194269 | ARSB | c.383T>A (p.Leu128His) n.454T>A | |
| 5 | g.78969123G>A | CA3318282 | ARSB | c.382C>T (p.Leu128Phe) n.453C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969123G>C | CA360194275 | ARSB | c.382C>G (p.Leu128Val) n.453C>G | |
| 5 | g.78969123G= | CA1557703798 | ARSB | c.382C= (p.Leu128=) n.453C= | |
| 5 | g.78969123G>T | CA360194273 | ARSB | c.382C>A (p.Leu128Ile) n.453C>A | |
| 5 | g.78969124T>A | CA360194277 | ARSB | c.381A>T (p.Lys127Asn) n.452A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969124T>C | CA445103548 | ARSB | c.381A>G (p.Lys127=) n.452A>G | |
| 5 | g.78969124T>G | CA360194279 | ARSB | c.381A>C (p.Lys127Asn) n.452A>C | dbSNP |
| 5 | g.78969124T= | CA1557703799 | ARSB | c.381A= (p.Lys127=) n.452A= | |
| 5 | g.78969125T>A | CA360194282 | ARSB | c.380A>T (p.Lys127Ile) n.451A>T | |
| 5 | g.78969125T>C | CA360194287 | ARSB | c.380A>G (p.Lys127Arg) n.451A>G | |
| 5 | g.78969125T>G | CA360194289 | ARSB | c.380A>C (p.Lys127Thr) n.451A>C | |
| 5 | g.78969126T>A | CA360194292 | ARSB | c.379A>T (p.Lys127Ter) n.450A>T | |
| 5 | g.78969126T>C | CA360194293 | ARSB | c.379A>G (p.Lys127Glu) n.450A>G | |
| 5 | g.78969126T>G | CA360194294 | ARSB | c.379A>C (p.Lys127Gln) n.450A>C | |
| 5 | g.78969127T>A | CA360194297 | ARSB | c.378A>T (p.Glu126Asp) n.449A>T | |
| 5 | g.78969127T>C | CA445103555 | ARSB | c.378A>G (p.Glu126=) n.449A>G | |
| 5 | g.78969127T>G | CA360194298 | ARSB | c.378A>C (p.Glu126Asp) n.449A>C | |
| 5 | g.78969128T>A | CA360194302 | ARSB | c.377A>T (p.Glu126Val) n.448A>T | gnomAD v4 |
| 5 | g.78969128T>C | CA360194305 | ARSB | c.377A>G (p.Glu126Gly) n.448A>G | |
| 5 | g.78969128T>G | CA360194301 | ARSB | c.377A>C (p.Glu126Ala) n.448A>C | |
| 5 | g.78969129C>A | CA360194308 | ARSB | c.376G>T (p.Glu126Ter) n.447G>T | ClinVar |
| 5 | g.78969129C= | CA1557703800 | ARSB | c.376G= (p.Glu126=) n.447G= | |
| 5 | g.78969129C>G | CA360194309 | ARSB | c.376G>C (p.Glu126Gln) n.447G>C | |
| 5 | g.78969129C>T | CA360194312 | ARSB | c.376G>A (p.Glu126Lys) n.447G>A | |
| 5 | g.78969130A>C | CA360194314 | ARSB | c.375T>G (p.Asp125Glu) n.446T>G | |
| 5 | g.78969130A>G | CA445103561 | ARSB | c.375T>C (p.Asp125=) n.446T>C | |
| 5 | g.78969130A>T | CA360194315 | ARSB | c.375T>A (p.Asp125Glu) n.446T>A | |
| 5 | g.78969130dup | CA658822934 | ARSB | c.375dup (p.Glu126Ter) n.446dup | ClinVar dbSNP |
| 5 | g.78969131T>A | CA360194318 | ARSB | c.374A>T (p.Asp125Val) n.445A>T | |
| 5 | g.78969131T>C | CA3318283 | ARSB | c.374A>G (p.Asp125Gly) n.445A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969131T>G | CA360194321 | ARSB | c.374A>C (p.Asp125Ala) n.445A>C | |
| 5 | g.78969131T= | CA1557703801 | ARSB | c.374A= (p.Asp125=) n.445A= | |
| 5 | g.78969132C>A | CA360194323 | ARSB | c.373G>T (p.Asp125Tyr) n.444G>T | |
| 5 | g.78969132C>G | CA360194324 | ARSB | c.373G>C (p.Asp125His) n.444G>C | |
| 5 | g.78969132C>T | CA360194327 | ARSB | c.373G>A (p.Asp125Asn) n.444G>A | |
| 5 | g.78969133C>A | CA445103570 | ARSB | c.372G>T (p.Leu124=) n.443G>T | dbSNP |
| 5 | g.78969133C>G | CA445103572 | ARSB | c.372G>C (p.Leu124=) n.443G>C | |
| 5 | g.78969133C>T | CA445103575 | ARSB | c.372G>A (p.Leu124=) n.443G>A | |
| 5 | g.78969134A>C | CA360194328 | ARSB | c.371T>G (p.Leu124Arg) n.442T>G | |
| 5 | g.78969134A>G | CA360194330 | ARSB | c.371T>C (p.Leu124Pro) n.442T>C | gnomAD v4 |
| 5 | g.78969134A>T | CA360194332 | ARSB | c.371T>A (p.Leu124Gln) n.442T>A | |
| 5 | g.78969135G>A | CA445103579 | ARSB | c.370C>T (p.Leu124=) n.441C>T | ClinVar gnomAD v4 |
| 5 | g.78969135G>C | CA360194336 | ARSB | c.370C>G (p.Leu124Val) n.441C>G | gnomAD v4 |
| 5 | g.78969135G>T | CA360194335 | ARSB | c.370C>A (p.Leu124Met) n.441C>A | |
| 5 | g.78969136A>C | CA445103584 | ARSB | c.369T>G (p.Pro123=) n.440T>G | |
| 5 | g.78969136A>G | CA445103585 | ARSB | c.369T>C (p.Pro123=) n.440T>C | |
| 5 | g.78969136A>T | CA445103586 | ARSB | c.369T>A (p.Pro123=) n.440T>A | |
| 5 | g.78969137G>A | CA360194339 | ARSB | c.368C>T (p.Pro123Leu) n.439C>T | |
| 5 | g.78969137G>C | CA360194340 | ARSB | c.368C>G (p.Pro123Arg) n.439C>G | |
| 5 | g.78969137G>T | CA360194342 | ARSB | c.368C>A (p.Pro123His) n.439C>A | |
| 5 | g.78969138G>A | CA360194343 | ARSB | c.367C>T (p.Pro123Ser) n.438C>T | gnomAD v4 |
| 5 | g.78969138G>C | CA360194344 | ARSB | c.367C>G (p.Pro123Ala) n.438C>G | |
| 5 | g.78969138G>T | CA360194345 | ARSB | c.367C>A (p.Pro123Thr) n.438C>A | |
| 5 | g.78969139A>C | CA445103592 | ARSB | c.366T>G (p.Val122=) n.437T>G | |
| 5 | g.78969139A>G | CA445103595 | ARSB | c.366T>C (p.Val122=) n.437T>C | gnomAD v4 |
| 5 | g.78969139A>T | CA445103590 | ARSB | c.366T>A (p.Val122=) n.437T>A | |
| 5 | g.78969140A>C | CA360194350 | ARSB | c.365T>G (p.Val122Gly) n.436T>G | |
| 5 | g.78969140A>G | CA360194346 | ARSB | c.365T>C (p.Val122Ala) n.436T>C | |
| 5 | g.78969140A>T | CA360194347 | ARSB | c.365T>A (p.Val122Asp) n.436T>A | |
| 5 | g.78969143_78969156dup | CA2582341584 | ARSB | c.352_365dup (p.Pro123SerfsTer16) n.423_436dup | ClinVar gnomAD v4 |
| 5 | g.78969141C>A | CA360194352 | ARSB | c.364G>T (p.Val122Phe) n.435G>T | |
| 5 | g.78969141C>G | CA360194353 | ARSB | c.364G>C (p.Val122Leu) n.435G>C | |
| 5 | g.78969141C>T | CA360194354 | ARSB | c.364G>A (p.Val122Ile) n.435G>A | |
| 5 | g.78969142A>C | CA360194356 | ARSB | c.363T>G (p.Cys121Trp) n.434T>G | |
| 5 | g.78969142A>G | CA445103598 | ARSB | c.363T>C (p.Cys121=) n.434T>C | ClinVar dbSNP |
| 5 | g.78969142A>T | CA360194358 | ARSB | c.363T>A (p.Cys121Ter) n.434T>A | |
| 5 | g.78969143C>A | CA360194360 | ARSB | c.362G>T (p.Cys121Phe) n.433G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969143C= | CA1557703802 | ARSB | c.362G= (p.Cys121=) n.433G= | |
| 5 | g.78969143C>G | CA360194364 | ARSB | c.362G>C (p.Cys121Ser) n.433G>C | |
| 5 | g.78969143C>T | CA360194362 | ARSB | c.362G>A (p.Cys121Tyr) n.433G>A | gnomAD v4 |
| 5 | g.78969144A= | CA1557703803 | ARSB | c.361T= (p.Cys121=) n.432T= | |
| 5 | g.78969144A>C | CA360194366 | ARSB | c.361T>G (p.Cys121Gly) n.432T>G | |
| 5 | g.78969144A>G | CA360194367 | ARSB | c.361T>C (p.Cys121Arg) n.432T>C | ClinVar dbSNP |
| 5 | g.78969144A>T | CA360194369 | ARSB | c.361T>A (p.Cys121Ser) n.432T>A | |
| 5 | g.78969145G>A | CA445103606 | ARSB | c.360C>T (p.Ser120=) n.431C>T | |
| 5 | g.78969145G>C | CA360194371 | ARSB | c.360C>G (p.Ser120Arg) n.431C>G | |
| 5 | g.78969145G= | CA1557703804 | ARSB | c.360C= (p.Ser120=) n.431C= | |
| 5 | g.78969145G>T | CA360194373 | ARSB | c.360C>A (p.Ser120Arg) n.431C>A | |
| 5 | g.78969146C>A | CA360194376 | ARSB | c.359G>T (p.Ser120Ile) n.430G>T | |
| 5 | g.78969146C>G | CA360194375 | ARSB | c.359G>C (p.Ser120Thr) n.430G>C | |
| 5 | g.78969146C>T | CA360194374 | ARSB | c.359G>A (p.Ser120Asn) n.430G>A | |
| 5 | g.78969146dup | CA560767969 | ARSB | c.359dup (p.Ser120ArgfsTer7) n.430dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969146_78969149delinsCTGG | CA1557703805 | ARSB | c.356_359delinsCCAG (p.Pro119=) n.427_430delinsCCAG | |
| 5 | g.78969147T>A | CA360194378 | ARSB | c.358A>T (p.Ser120Cys) n.429A>T | |
| 5 | g.78969147T>C | CA3318284 | ARSB | c.358A>G (p.Ser120Gly) n.429A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969147T>G | CA360194380 | ARSB | c.358A>C (p.Ser120Arg) n.429A>C | |
| 5 | g.78969147T= | CA1557703806 | ARSB | c.358A= (p.Ser120=) n.429A= | |
| 5 | g.78969147_78969149del | CA658822935 | ARSB | c.356_358del (p.Pro119_Ser120delinsArg) n.427_429del | ClinVar dbSNP |
| 5 | g.78969148G>A | CA121108012 | ARSB | c.357C>T (p.Pro119=) n.428C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969148G>C | CA445103611 | ARSB | c.357C>G (p.Pro119=) n.428C>G | |
| 5 | g.78969148G= | CA1557703807 | ARSB | c.357C= (p.Pro119=) n.428C= | |
| 5 | g.78969148G>T | CA445103612 | ARSB | c.357C>A (p.Pro119=) n.428C>A | |
| 5 | g.78969149G>A | CA360194381 | ARSB | c.356C>T (p.Pro119Leu) n.427C>T | |
| 5 | g.78969149G>C | CA360194382 | ARSB | c.356C>G (p.Pro119Arg) n.427C>G | |
| 5 | g.78969149G>T | CA360194383 | ARSB | c.356C>A (p.Pro119His) n.427C>A | |
| 5 | g.78969150G>A | CA360194385 | ARSB | c.355C>T (p.Pro119Ser) n.426C>T | COSMIC COSMIC |
| 5 | g.78969150G>C | CA360194388 | ARSB | c.355C>G (p.Pro119Ala) n.426C>G | dbSNP |
| 5 | g.78969150G= | CA1557703808 | ARSB | c.355C= (p.Pro119=) n.426C= | |
| 5 | g.78969150G>T | CA360194386 | ARSB | c.355C>A (p.Pro119Thr) n.426C>A | |
| 5 | g.78969151C>A | CA360194390 | ARSB | c.354G>T (p.Gln118His) n.425G>T | |
| 5 | g.78969151C>G | CA360194391 | ARSB | c.354G>C (p.Gln118His) n.425G>C | |
| 5 | g.78969151C>T | CA445103619 | ARSB | c.354G>A (p.Gln118=) n.425G>A | ClinVar gnomAD v4 |
| 5 | g.78969152T>A | CA360194393 | ARSB | c.353A>T (p.Gln118Leu) n.424A>T | |
| 5 | g.78969152T>C | CA360194394 | ARSB | c.353A>G (p.Gln118Arg) n.424A>G | |
| 5 | g.78969152T>G | CA360194396 | ARSB | c.353A>C (p.Gln118Pro) n.424A>C | |
| 5 | g.78969153G>A | CA360194398 | ARSB | c.352C>T (p.Gln118Ter) n.423C>T | |
| 5 | g.78969153G>C | CA360194399 | ARSB | c.352C>G (p.Gln118Glu) n.423C>G | |
| 5 | g.78969153G>T | CA360194400 | ARSB | c.352C>A (p.Gln118Lys) n.423C>A | gnomAD v4 |
| 5 | g.78969154A>C | CA360194402 | ARSB | c.351T>G (p.Cys117Trp) n.422T>G | |
| 5 | g.78969154A>G | CA445103621 | ARSB | c.351T>C (p.Cys117=) n.422T>C | ClinVar dbSNP |
| 5 | g.78969154A>T | CA360194404 | ARSB | c.351T>A (p.Cys117Ter) n.422T>A | |
| 5 | g.78969155C>A | CA360194408 | ARSB | c.350G>T (p.Cys117Phe) n.421G>T | |
| 5 | g.78969155C>G | CA360194407 | ARSB | c.350G>C (p.Cys117Ser) n.421G>C | |
| 5 | g.78969155C>T | CA360194406 | ARSB | c.350G>A (p.Cys117Tyr) n.421G>A | ClinVar |
| 5 | g.78969156A= | CA1557703809 | ARSB | c.349T= (p.Cys117=) n.420T= | |
| 5 | g.78969156A>C | CA360194409 | ARSB | c.349T>G (p.Cys117Gly) n.420T>G | |
| 5 | g.78969156A>G | CA114601 | ARSB | c.349T>C (p.Cys117Arg) n.420T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969156A>T | CA360194411 | ARSB | c.349T>A (p.Cys117Ser) n.420T>A | |
| 5 | g.78969157G>A | CA3318285 | ARSB | c.348C>T (p.Pro116=) n.419C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969157G>C | CA445103623 | ARSB | c.348C>G (p.Pro116=) n.419C>G | |
| 5 | g.78969157G= | CA1557703810 | ARSB | c.348C= (p.Pro116=) n.419C= | |
| 5 | g.78969157G>T | CA445103625 | ARSB | c.348C>A (p.Pro116=) n.419C>A | |
| 5 | g.78969159del | CA2674368718 | ARSB | c.348del (p.Cys117ValfsTer17) n.419del | gnomAD v4 |
| 5 | g.78969158G>A | CA360194416 | ARSB | c.347C>T (p.Pro116Leu) n.418C>T | gnomAD v4 |
| 5 | g.78969158G>C | CA360194414 | ARSB | c.347C>G (p.Pro116Arg) n.418C>G | |
| 5 | g.78969158G= | CA1557703811 | ARSB | c.347C= (p.Pro116=) n.418C= | |
| 5 | g.78969158G>T | CA3318286 | ARSB | c.347C>A (p.Pro116His) n.418C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969159G>A | CA360194418 | ARSB | c.346C>T (p.Pro116Ser) n.417C>T | gnomAD v4 |
| 5 | g.78969159G>C | CA360194419 | ARSB | c.346C>G (p.Pro116Ala) n.417C>G | |
| 5 | g.78969159G>T | CA360194421 | ARSB | c.346C>A (p.Pro116Thr) n.417C>A | |
| 5 | g.78969160C>A | CA360194422 | ARSB | c.345G>T (p.Trp115Cys) n.416G>T | |
| 5 | g.78969160C>G | CA360194424 | ARSB | c.345G>C (p.Trp115Cys) n.416G>C | |
| 5 | g.78969160C>T | CA360194425 | ARSB | c.345G>A (p.Trp115Ter) n.416G>A | ClinVar dbSNP |
| 5 | g.78969161C>A | CA360194426 | ARSB | c.344G>T (p.Trp115Leu) n.415G>T | |
| 5 | g.78969161C>G | CA360194427 | ARSB | c.344G>C (p.Trp115Ser) n.415G>C | |
| 5 | g.78969161C>T | CA360194428 | ARSB | c.344G>A (p.Trp115Ter) n.415G>A | |
| 5 | g.78969162A>C | CA360194430 | ARSB | c.343T>G (p.Trp115Gly) n.414T>G | |
| 5 | g.78969162A>G | CA360194432 | ARSB | c.343T>C (p.Trp115Arg) n.414T>C | |
| 5 | g.78969162A>T | CA360194433 | ARSB | c.343T>A (p.Trp115Arg) n.414T>A | |
| 5 | g.78969163G>A | CA445103635 | ARSB | c.342C>T (p.Ile114=) n.413C>T | |
| 5 | g.78969163G>C | CA360194435 | ARSB | c.342C>G (p.Ile114Met) n.413C>G | |
| 5 | g.78969163G>T | CA445103630 | ARSB | c.342C>A (p.Ile114=) n.413C>A | |
| 5 | g.78969164A>C | CA360194436 | ARSB | c.341T>G (p.Ile114Ser) n.412T>G | |
| 5 | g.78969164A>G | CA360194440 | ARSB | c.341T>C (p.Ile114Thr) n.412T>C | |
| 5 | g.78969164A>T | CA360194438 | ARSB | c.341T>A (p.Ile114Asn) n.412T>A | |
| 5 | g.78969165T>A | CA360194442 | ARSB | c.340A>T (p.Ile114Phe) n.411A>T | |
| 5 | g.78969165T>C | CA360194443 | ARSB | c.340A>G (p.Ile114Val) n.411A>G | |
| 5 | g.78969165T>G | CA360194445 | ARSB | c.340A>C (p.Ile114Leu) n.411A>C | |
| 5 | g.78969166T>A | CA3318287 | ARSB | c.339A>T (p.Ile113=) n.410A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969166T>C | CA360194447 | ARSB | c.339A>G (p.Ile113Met) n.410A>G | |
| 5 | g.78969166T>G | CA445103638 | ARSB | c.339A>C (p.Ile113=) n.410A>C | ClinVar |
| 5 | g.78969166T= | CA1557703812 | ARSB | c.339A= (p.Ile113=) n.410A= | |
| 5 | g.78969167A>C | CA360194449 | ARSB | c.338T>G (p.Ile113Arg) n.409T>G | |
| 5 | g.78969167A>G | CA360194451 | ARSB | c.338T>C (p.Ile113Thr) n.409T>C | |
| 5 | g.78969167A>T | CA360194452 | ARSB | c.338T>A (p.Ile113Lys) n.409T>A | |
| 5 | g.78969168T>A | CA360194454 | ARSB | c.337A>T (p.Ile113Leu) n.408A>T | |
| 5 | g.78969168T>C | CA360194455 | ARSB | c.337A>G (p.Ile113Val) n.408A>G | |
| 5 | g.78969168T>G | CA360194457 | ARSB | c.337A>C (p.Ile113Leu) n.408A>C | |
| 5 | g.78969170del | CA2767135217 | ARSB | c.337del (p.Ile113Ter) n.408del | |
| 5 | g.78969169T>A | CA360194459 | ARSB | c.336A>T (p.Gln112His) n.407A>T | |
| 5 | g.78969169T>C | CA445103641 | ARSB | c.336A>G (p.Gln112=) n.407A>G | ClinVar |
| 5 | g.78969169T>G | CA360194461 | ARSB | c.336A>C (p.Gln112His) n.407A>C | |
| 5 | g.78969170T>A | CA360194463 | ARSB | c.335A>T (p.Gln112Leu) n.406A>T | |
| 5 | g.78969170T>C | CA360194464 | ARSB | c.335A>G (p.Gln112Arg) n.406A>G | |
| 5 | g.78969170T>G | CA360194466 | ARSB | c.335A>C (p.Gln112Pro) n.406A>C | |
| 5 | g.78969171G>A | CA360194467 | ARSB | c.334C>T (p.Gln112Ter) n.405C>T | |
| 5 | g.78969171G>C | CA360194468 | ARSB | c.334C>G (p.Gln112Glu) n.405C>G | gnomAD v4 |
| 5 | g.78969171G>T | CA360194470 | ARSB | c.334C>A (p.Gln112Lys) n.405C>A | |
| 5 | g.78969172G>A | CA445103645 | ARSB | c.333C>T (p.His111=) n.404C>T | |
| 5 | g.78969172G>C | CA360194472 | ARSB | c.333C>G (p.His111Gln) n.404C>G | |
| 5 | g.78969172G>T | CA360194473 | ARSB | c.333C>A (p.His111Gln) n.404C>A | |
| 5 | g.78969173T>A | CA360194475 | ARSB | c.332A>T (p.His111Leu) n.403A>T | |
| 5 | g.78969173T>C | CA360194476 | ARSB | c.332A>G (p.His111Arg) n.403A>G | |
| 5 | g.78969173T>G | CA360194478 | ARSB | c.332A>C (p.His111Pro) n.403A>C | ClinVar dbSNP |
| 5 | g.78969173T= | CA1557703813 | ARSB | c.332A= (p.His111=) n.403A= | |
| 5 | g.78969174G>A | CA360194482 | ARSB | c.331C>T (p.His111Tyr) n.402C>T | |
| 5 | g.78969174G>C | CA360194481 | ARSB | c.331C>G (p.His111Asp) n.402C>G | |
| 5 | g.78969174G>T | CA360194480 | ARSB | c.331C>A (p.His111Asn) n.402C>A | |
| 5 | g.78969175C>A | CA360194484 | ARSB | c.330G>T (p.Gln110His) n.401G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969175C= | CA1557703814 | ARSB | c.330G= (p.Gln110=) n.401G= | |
| 5 | g.78969175C>G | CA360194486 | ARSB | c.330G>C (p.Gln110His) n.401G>C | |
| 5 | g.78969175C>T | CA445103650 | ARSB | c.330G>A (p.Gln110=) n.401G>A | |
| 5 | g.78969176T>A | CA360194487 | ARSB | c.329A>T (p.Gln110Leu) n.400A>T | |
| 5 | g.78969176T>C | CA360194489 | ARSB | c.329A>G (p.Gln110Arg) n.400A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969176T>G | CA360194491 | ARSB | c.329A>C (p.Gln110Pro) n.400A>C | |
| 5 | g.78969176T= | CA1557703815 | ARSB | c.329A= (p.Gln110=) n.400A= | |
| 5 | g.78969177G>A | CA360194493 | ARSB | c.328C>T (p.Gln110Ter) n.399C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969177G>C | CA360194494 | ARSB | c.328C>G (p.Gln110Glu) n.399C>G | |
| 5 | g.78969177G= | CA1557703816 | ARSB | c.328C= (p.Gln110=) n.399C= | |
| 5 | g.78969177G>T | CA360194495 | ARSB | c.328C>A (p.Gln110Lys) n.399C>A | |
| 5 | g.78969178T>A | CA360194498 | ARSB | c.327A>T (p.Leu109Phe) n.398A>T | dbSNP gnomAD v4 |
| 5 | g.78969178T>C | CA445103651 | ARSB | c.327A>G (p.Leu109=) n.398A>G | ClinVar |
| 5 | g.78969178T>G | CA360194499 | ARSB | c.327A>C (p.Leu109Phe) n.398A>C | |
| 5 | g.78969178T= | CA1557703817 | ARSB | c.327A= (p.Leu109=) n.398A= | |
| 5 | g.78969179A>C | CA360194501 | ARSB | c.326T>G (p.Leu109Ter) n.397T>G | |
| 5 | g.78969179A>G | CA360194502 | ARSB | c.326T>C (p.Leu109Ser) n.397T>C | |
| 5 | g.78969179A>T | CA360194504 | ARSB | c.326T>A (p.Leu109Ter) n.397T>A | |
| 5 | g.78969180A>C | CA360194507 | ARSB | c.325T>G (p.Leu109Val) n.396T>G | |
| 5 | g.78969180A>G | CA445103656 | ARSB | c.325T>C (p.Leu109=) n.396T>C | |
| 5 | g.78969180A>T | CA360194506 | ARSB | c.325T>A (p.Leu109Ile) n.396T>A | |
| 5 | g.78969181A= | CA1557703818 | ARSB | c.324T= (p.Gly108=) n.395T= | |
| 5 | g.78969181A>C | CA445103658 | ARSB | c.324T>G (p.Gly108=) n.395T>G | |
| 5 | g.78969181A>G | CA121108059 | ARSB | c.324T>C (p.Gly108=) n.395T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969181A>T | CA445103657 | ARSB | c.324T>A (p.Gly108=) n.395T>A | |
| 5 | g.78969182C>A | CA3318288 | ARSB | c.323G>T (p.Gly108Val) n.394G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969182C= | CA1557703819 | ARSB | c.323G= (p.Gly108=) n.394G= | |
| 5 | g.78969182C>G | CA360194511 | ARSB | c.323G>C (p.Gly108Ala) n.394G>C | |
| 5 | g.78969182C>T | CA360194510 | ARSB | c.323G>A (p.Gly108Asp) n.394G>A | ClinVar gnomAD v4 |
| 5 | g.78969183C>A | CA360194513 | ARSB | c.322G>T (p.Gly108Cys) n.393G>T | |
| 5 | g.78969183C>G | CA360194514 | ARSB | c.322G>C (p.Gly108Arg) n.393G>C | |
| 5 | g.78969183C>T | CA360194515 | ARSB | c.322G>A (p.Gly108Ser) n.393G>A | |
| 5 | g.78969184T>A | CA445103662 | ARSB | c.321A>T (p.Thr107=) n.392A>T | |
| 5 | g.78969184T>C | CA445103665 | ARSB | c.321A>G (p.Thr107=) n.392A>G | ClinVar dbSNP |
| 5 | g.78969184T>G | CA445103664 | ARSB | c.321A>C (p.Thr107=) n.392A>C | |
| 5 | g.78969185G>A | CA360194517 | ARSB | c.320C>T (p.Thr107Ile) n.391C>T | |
| 5 | g.78969185G>C | CA360194518 | ARSB | c.320C>G (p.Thr107Arg) n.391C>G | |
| 5 | g.78969185G>T | CA360194520 | ARSB | c.320C>A (p.Thr107Lys) n.391C>A | |
| 5 | g.78969186T>A | CA360194522 | ARSB | c.319A>T (p.Thr107Ser) n.390A>T | |
| 5 | g.78969186T>C | CA3318289 | ARSB | c.319A>G (p.Thr107Ala) n.390A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969186T>G | CA360194524 | ARSB | c.319A>C (p.Thr107Pro) n.390A>C | |
| 5 | g.78969186T= | CA1557703820 | ARSB | c.319A= (p.Thr107=) n.390A= | |
| 5 | g.78969187A>C | CA445103667 | ARSB | c.318T>G (p.Arg106=) n.389T>G | |
| 5 | g.78969187A>G | CA445103668 | ARSB | c.318T>C (p.Arg106=) n.389T>C | |
| 5 | g.78969187A>T | CA445103669 | ARSB | c.318T>A (p.Arg106=) n.389T>A | |
| 5 | g.78969188C>A | CA360194526 | ARSB | c.317G>T (p.Arg106Leu) n.388G>T | |
| 5 | g.78969188C= | CA1557703821 | ARSB | c.317G= (p.Arg106=) n.388G= | |
| 5 | g.78969188C>G | CA360194527 | ARSB | c.317G>C (p.Arg106Pro) n.388G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969188C>T | CA3318290 | ARSB | c.317G>A (p.Arg106His) n.388G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969189G>A | CA3318291 | ARSB | c.316C>T (p.Arg106Cys) n.387C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969189G>C | CA360194532 | ARSB | c.316C>G (p.Arg106Gly) n.387C>G | |
| 5 | g.78969189G= | CA1557703822 | ARSB | c.316C= (p.Arg106=) n.387C= | |
| 5 | g.78969189G>T | CA360194530 | ARSB | c.316C>A (p.Arg106Ser) n.387C>A | |
| 5 | g.78969190G>A | CA445103672 | ARSB | c.315C>T (p.Ile105=) n.386C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.78969190G>C | CA360194534 | ARSB | c.315C>G (p.Ile105Met) n.386C>G | |
| 5 | g.78969190G>T | CA445103673 | ARSB | c.315C>A (p.Ile105=) n.386C>A | |
| 5 | g.78969191A= | CA1557703823 | ARSB | c.314T= (p.Ile105=) n.385T= | |
| 5 | g.78969191A>C | CA360194535 | ARSB | c.314T>G (p.Ile105Ser) n.385T>G | |
| 5 | g.78969191A>G | CA3318292 | ARSB | c.314T>C (p.Ile105Thr) n.385T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969191A>T | CA360194537 | ARSB | c.314T>A (p.Ile105Asn) n.385T>A | gnomAD v4 |
| 5 | g.78969192T>A | CA360194539 | ARSB | c.313A>T (p.Ile105Phe) n.384A>T | |
| 5 | g.78969192T>C | CA360194540 | ARSB | c.313A>G (p.Ile105Val) n.384A>G | |
| 5 | g.78969192T>G | CA360194541 | ARSB | c.313A>C (p.Ile105Leu) n.384A>C | |
| 5 | g.78969193C>A | CA360194543 | ARSB | c.313-1G>T (n.313-1G>T) n.384-1G>T | gnomAD v4 |
| 5 | g.78969193C>G | CA360194544 | ARSB | c.313-1G>C (n.313-1G>C) n.384-1G>C | |
| 5 | g.78969193C>T | CA360194546 | ARSB | c.313-1G>A (n.313-1G>A) n.384-1G>A | |
| 5 | g.78969194T>A | CA360194550 | ARSB | c.313-2A>T (n.313-2A>T) n.384-2A>T | |
| 5 | g.78969194T>C | CA360194551 | ARSB | c.313-2A>G (n.313-2A>G) n.384-2A>G | |
| 5 | g.78969194T>G | CA360194548 | ARSB | c.313-2A>C (n.313-2A>C) n.384-2A>C | |
| 5 | g.78969195T= | CA1557703824 | ARSB | c.313-3A= (n.313-3A=) n.384-3A= | |
| 5 | g.78969196dup | CA1557703825 | ARSB | c.313-4dup (n.313-4dup) n.384-4dup | dbSNP |
| 5 | g.78969197C>G | CA2674369131 | ARSB | c.313-5G>C (n.313-5G>C) n.384-5G>C | gnomAD v4 |
| 5 | g.78969197C>T | CA2674369130 | ARSB | c.313-5G>A (n.313-5G>A) n.384-5G>A | gnomAD v4 |
| 5 | g.78969199G>A | CA2674369132 | ARSB | c.313-7C>T (n.313-7C>T) n.384-7C>T | gnomAD v4 |
| 5 | g.78969200A= | CA1557703826 | ARSB | c.313-8T= (n.313-8T=) n.384-8T= | |
| 5 | g.78969200A>G | CA560767970 | ARSB | c.313-8T>C (n.313-8T>C) n.384-8T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969201G>A | CA560767971 | ARSB | c.313-9C>T (n.313-9C>T) n.384-9C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969201G= | CA1557703827 | ARSB | c.313-9C= (n.313-9C=) n.384-9C= | |
| 5 | g.78969203T>C | CA1557703829 | ARSB | c.313-11A>G (n.313-11A>G) n.384-11A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969203T= | CA1557703828 | ARSB | c.313-11A= (n.313-11A=) n.384-11A= | |
| 5 | g.78969204A= | CA1557703830 | ARSB | c.313-12T= (n.313-12T=) n.384-12T= | |
| 5 | g.78969204A>G | CA3318293 | ARSB | c.313-12T>C (n.313-12T>C) n.384-12T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969206A= | CA1557703831 | ARSB | c.313-14T= (n.313-14T=) n.384-14T= | |
| 5 | g.78969206A>T | CA3318294 | ARSB | c.313-14T>A (n.313-14T>A) n.384-14T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |