Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21573746_21573748dup | CA2739272348 | ALPL | c.944_946dup (p.Val315_Ala316insVal) c.73-1987_73-1985dup c.713_715dup (p.Val238_Ala239insVal) c.779_781dup (p.Val260_Ala261insVal) c.788_790dup (p.Val263_Ala264insVal) | ClinVar |
1 | g.21573746_21573748del | CA19068172 | ALPL | c.944_946del (p.Val315del) c.73-1987_73-1985del c.713_715del (p.Val238del) c.779_781del (p.Val260del) c.788_790del (p.Val263del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573745G>A | CA338880331 | ALPL | c.943G>A (p.Val315Met) c.73-1988G>A c.712G>A (p.Val238Met) c.778G>A (p.Val260Met) c.787G>A (p.Val263Met) | gnomAD v4 |
1 | g.21573745G>C | CA338880332 | ALPL | c.943G>C (p.Val315Leu) c.73-1988G>C c.712G>C (p.Val238Leu) c.778G>C (p.Val260Leu) c.787G>C (p.Val263Leu) | |
1 | g.21573745G>T | CA338880333 | ALPL | c.943G>T (p.Val315Leu) c.73-1988G>T c.712G>T (p.Val238Leu) c.778G>T (p.Val260Leu) c.787G>T (p.Val263Leu) | ClinVar |
1 | g.21573746T>A | CA338880334 | ALPL | c.944T>A (p.Val315Glu) c.73-1987T>A c.713T>A (p.Val238Glu) c.779T>A (p.Val260Glu) c.788T>A (p.Val263Glu) | |
1 | g.21573746T>C | CA338880335 | ALPL | c.944T>C (p.Val315Ala) c.73-1987T>C c.713T>C (p.Val238Ala) c.779T>C (p.Val260Ala) c.788T>C (p.Val263Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573746T>G | CA338880336 | ALPL | c.944T>G (p.Val315Gly) c.73-1987T>G c.713T>G (p.Val238Gly) c.779T>G (p.Val260Gly) c.788T>G (p.Val263Gly) | |
1 | g.21573746T= | CA1158018348 | ALPL | c.944T= (p.Val315=) c.73-1987T= c.713T= (p.Val238=) c.779T= (p.Val260=) c.788T= (p.Val263=) | |
1 | g.21573747G>A | CA416532651 | ALPL | c.945G>A (p.Val315=) c.73-1986G>A c.714G>A (p.Val238=) c.780G>A (p.Val260=) c.789G>A (p.Val263=) | COSMIC |
1 | g.21573747G>C | CA416532653 | ALPL | c.945G>C (p.Val315=) c.73-1986G>C c.714G>C (p.Val238=) c.780G>C (p.Val260=) c.789G>C (p.Val263=) | |
1 | g.21573747G= | CA1158018349 | ALPL | c.945G= (p.Val315=) c.73-1986G= c.714G= (p.Val238=) c.780G= (p.Val260=) c.789G= (p.Val263=) | |
1 | g.21573747G>T | CA416532652 | ALPL | c.945G>T (p.Val315=) c.73-1986G>T c.714G>T (p.Val238=) c.780G>T (p.Val260=) c.789G>T (p.Val263=) | dbSNP |
1 | g.21573748G>A | CA338880339 | ALPL | c.946G>A (p.Ala316Thr) c.73-1985G>A c.715G>A (p.Ala239Thr) c.781G>A (p.Ala261Thr) c.790G>A (p.Ala264Thr) | |
1 | g.21573748G>C | CA338880337 | ALPL | c.946G>C (p.Ala316Pro) c.73-1985G>C c.715G>C (p.Ala239Pro) c.781G>C (p.Ala261Pro) c.790G>C (p.Ala264Pro) | |
1 | g.21573748G>T | CA338880338 | ALPL | c.946G>T (p.Ala316Ser) c.73-1985G>T c.715G>T (p.Ala239Ser) c.781G>T (p.Ala261Ser) c.790G>T (p.Ala264Ser) | |
1 | g.21573749C>A | CA338880340 | ALPL | c.947C>A (p.Ala316Asp) c.73-1984C>A c.716C>A (p.Ala239Asp) c.782C>A (p.Ala261Asp) c.791C>A (p.Ala264Asp) | |
1 | g.21573749C>G | CA338880341 | ALPL | c.947C>G (p.Ala316Gly) c.73-1984C>G c.716C>G (p.Ala239Gly) c.782C>G (p.Ala261Gly) c.791C>G (p.Ala264Gly) | |
1 | g.21573749C>T | CA338880342 | ALPL | c.947C>T (p.Ala316Val) c.73-1984C>T c.716C>T (p.Ala239Val) c.782C>T (p.Ala261Val) c.791C>T (p.Ala264Val) | |
1 | g.21573750C>A | CA416532656 | ALPL | c.948C>A (p.Ala316=) c.73-1983C>A c.717C>A (p.Ala239=) c.783C>A (p.Ala261=) c.792C>A (p.Ala264=) | gnomAD v4 |
1 | g.21573750C>G | CA416532654 | ALPL | c.948C>G (p.Ala316=) c.73-1983C>G c.717C>G (p.Ala239=) c.783C>G (p.Ala261=) c.792C>G (p.Ala264=) | |
1 | g.21573750C>T | CA416532655 | ALPL | c.948C>T (p.Ala316=) c.73-1983C>T c.717C>T (p.Ala239=) c.783C>T (p.Ala261=) c.792C>T (p.Ala264=) | |
1 | g.21573751A= | CA1158018350 | ALPL | c.949A= (p.Ile317=) c.73-1982A= c.718A= (p.Ile240=) c.784A= (p.Ile262=) c.793A= (p.Ile265=) | |
1 | g.21573751A>C | CA338880343 | ALPL | c.949A>C (p.Ile317Leu) c.73-1982A>C c.718A>C (p.Ile240Leu) c.784A>C (p.Ile262Leu) c.793A>C (p.Ile265Leu) | |
1 | g.21573751A>G | CA338880344 | ALPL | c.949A>G (p.Ile317Val) c.73-1982A>G c.718A>G (p.Ile240Val) c.784A>G (p.Ile262Val) c.793A>G (p.Ile265Val) | |
1 | g.21573751A>T | CA338880345 | ALPL | c.949A>T (p.Ile317Phe) c.73-1982A>T c.718A>T (p.Ile240Phe) c.784A>T (p.Ile262Phe) c.793A>T (p.Ile265Phe) | ClinVar dbSNP |
1 | g.21573752T>A | CA338880346 | ALPL | c.950T>A (p.Ile317Asn) c.73-1981T>A c.719T>A (p.Ile240Asn) c.785T>A (p.Ile262Asn) c.794T>A (p.Ile265Asn) | |
1 | g.21573752T>C | CA338880347 | ALPL | c.950T>C (p.Ile317Thr) c.73-1981T>C c.719T>C (p.Ile240Thr) c.785T>C (p.Ile262Thr) c.794T>C (p.Ile265Thr) | |
1 | g.21573752T>G | CA338880348 | ALPL | c.950T>G (p.Ile317Ser) c.73-1981T>G c.719T>G (p.Ile240Ser) c.785T>G (p.Ile262Ser) c.794T>G (p.Ile265Ser) | |
1 | g.21573753C>A | CA416532657 | ALPL | c.951C>A (p.Ile317=) c.73-1980C>A c.720C>A (p.Ile240=) c.786C>A (p.Ile262=) c.795C>A (p.Ile265=) | |
1 | g.21573753C>G | CA338880349 | ALPL | c.951C>G (p.Ile317Met) c.73-1980C>G c.720C>G (p.Ile240Met) c.786C>G (p.Ile262Met) c.795C>G (p.Ile265Met) | |
1 | g.21573753C>T | CA416532658 | ALPL | c.951C>T (p.Ile317=) c.73-1980C>T c.720C>T (p.Ile240=) c.786C>T (p.Ile262=) c.795C>T (p.Ile265=) | ClinVar |
1 | g.21573754C>A | CA666687 | ALPL | c.952C>A (p.Gln318Lys) c.73-1979C>A c.721C>A (p.Gln241Lys) c.787C>A (p.Gln263Lys) c.796C>A (p.Gln266Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573754C= | CA1158018351 | ALPL | c.952C= (p.Gln318=) c.73-1979C= c.721C= (p.Gln241=) c.787C= (p.Gln263=) c.796C= (p.Gln266=) | |
1 | g.21573754C>G | CA338880351 | ALPL | c.952C>G (p.Gln318Glu) c.73-1979C>G c.721C>G (p.Gln241Glu) c.787C>G (p.Gln263Glu) c.796C>G (p.Gln266Glu) | |
1 | g.21573754C>T | CA338880350 | ALPL | c.952C>T (p.Gln318Ter) c.73-1979C>T c.721C>T (p.Gln241Ter) c.787C>T (p.Gln263Ter) c.796C>T (p.Gln266Ter) | ClinVar |
1 | g.21573754_21573756del | CA2574252958 | ALPL | c.952_954del (p.Gln318del) c.73-1979_73-1977del c.721_723del (p.Gln241del) c.787_789del (p.Gln263del) c.796_798del (p.Gln266del) | |
1 | g.21573755A>C | CA338880352 | ALPL | c.953A>C (p.Gln318Pro) c.73-1978A>C c.722A>C (p.Gln241Pro) c.788A>C (p.Gln263Pro) c.797A>C (p.Gln266Pro) | |
1 | g.21573755A>G | CA338880354 | ALPL | c.953A>G (p.Gln318Arg) c.73-1978A>G c.722A>G (p.Gln241Arg) c.788A>G (p.Gln263Arg) c.797A>G (p.Gln266Arg) | |
1 | g.21573755A>T | CA338880353 | ALPL | c.953A>T (p.Gln318Leu) c.73-1978A>T c.722A>T (p.Gln241Leu) c.788A>T (p.Gln263Leu) c.797A>T (p.Gln266Leu) | |
1 | g.21573756G>A | CA416532659 | ALPL | c.954G>A (p.Gln318=) c.73-1977G>A c.723G>A (p.Gln241=) c.789G>A (p.Gln263=) c.798G>A (p.Gln266=) | ClinVar |
1 | g.21573756G>C | CA338880355 | ALPL | c.954G>C (p.Gln318His) c.73-1977G>C c.723G>C (p.Gln241His) c.789G>C (p.Gln263His) c.798G>C (p.Gln266His) | gnomAD v4 |
1 | g.21573756G>T | CA338880356 | ALPL | c.954G>T (p.Gln318His) c.73-1977G>T c.723G>T (p.Gln241His) c.789G>T (p.Gln263His) c.798G>T (p.Gln266His) | |
1 | g.21573757A= | CA1158018352 | ALPL | c.955A= (p.Ile319=) c.73-1976A= c.724A= (p.Ile242=) c.790A= (p.Ile264=) c.799A= (p.Ile267=) | |
1 | g.21573757A>C | CA338880357 | ALPL | c.955A>C (p.Ile319Leu) c.73-1976A>C c.724A>C (p.Ile242Leu) c.790A>C (p.Ile264Leu) c.799A>C (p.Ile267Leu) | |
1 | g.21573757A>G | CA338880358 | ALPL | c.955A>G (p.Ile319Val) c.73-1976A>G c.724A>G (p.Ile242Val) c.790A>G (p.Ile264Val) c.799A>G (p.Ile267Val) | dbSNP gnomAD v2 |
1 | g.21573757A>T | CA338880359 | ALPL | c.955A>T (p.Ile319Phe) c.73-1976A>T c.724A>T (p.Ile242Phe) c.790A>T (p.Ile264Phe) c.799A>T (p.Ile267Phe) | gnomAD v4 |
1 | g.21573758T>A | CA338880360 | ALPL | c.956T>A (p.Ile319Asn) c.73-1975T>A c.725T>A (p.Ile242Asn) c.791T>A (p.Ile264Asn) c.800T>A (p.Ile267Asn) | |
1 | g.21573758T>C | CA338880361 | ALPL | c.956T>C (p.Ile319Thr) c.73-1975T>C c.725T>C (p.Ile242Thr) c.791T>C (p.Ile264Thr) c.800T>C (p.Ile267Thr) | |
1 | g.21573758T>G | CA338880362 | ALPL | c.956T>G (p.Ile319Ser) c.73-1975T>G c.725T>G (p.Ile242Ser) c.791T>G (p.Ile264Ser) c.800T>G (p.Ile267Ser) | |
1 | g.21573759C>A | CA416532660 | ALPL | c.957C>A (p.Ile319=) c.73-1974C>A c.726C>A (p.Ile242=) c.792C>A (p.Ile264=) c.801C>A (p.Ile267=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573759C= | CA1158018353 | ALPL | c.957C= (p.Ile319=) c.73-1974C= c.726C= (p.Ile242=) c.792C= (p.Ile264=) c.801C= (p.Ile267=) | |
1 | g.21573759C>G | CA338880363 | ALPL | c.957C>G (p.Ile319Met) c.73-1974C>G c.726C>G (p.Ile242Met) c.792C>G (p.Ile264Met) c.801C>G (p.Ile267Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573759C>T | CA416532661 | ALPL | c.957C>T (p.Ile319=) c.73-1974C>T c.726C>T (p.Ile242=) c.792C>T (p.Ile264=) c.801C>T (p.Ile267=) | |
1 | g.21573760C>A | CA338880364 | ALPL | c.958C>A (p.Leu320Met) c.73-1973C>A c.727C>A (p.Leu243Met) c.793C>A (p.Leu265Met) c.802C>A (p.Leu268Met) | |
1 | g.21573760C= | CA1158018354 | ALPL | c.958C= (p.Leu320=) c.73-1973C= c.727C= (p.Leu243=) c.793C= (p.Leu265=) c.802C= (p.Leu268=) | |
1 | g.21573760C>G | CA666688 | ALPL | c.958C>G (p.Leu320Val) c.73-1973C>G c.727C>G (p.Leu243Val) c.793C>G (p.Leu265Val) c.802C>G (p.Leu268Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573760C>T | CA416532662 | ALPL | c.958C>T (p.Leu320=) c.73-1973C>T c.727C>T (p.Leu243=) c.793C>T (p.Leu265=) c.802C>T (p.Leu268=) | |
1 | g.21573761T>A | CA338880367 | ALPL | c.959T>A (p.Leu320Gln) c.73-1972T>A c.728T>A (p.Leu243Gln) c.794T>A (p.Leu265Gln) c.803T>A (p.Leu268Gln) | |
1 | g.21573761T>C | CA338880366 | ALPL | c.959T>C (p.Leu320Pro) c.73-1972T>C c.728T>C (p.Leu243Pro) c.794T>C (p.Leu265Pro) c.803T>C (p.Leu268Pro) | |
1 | g.21573761T>G | CA338880365 | ALPL | c.959T>G (p.Leu320Arg) c.73-1972T>G c.728T>G (p.Leu243Arg) c.794T>G (p.Leu265Arg) c.803T>G (p.Leu268Arg) | |
1 | g.21573762G>A | CA416532665 | ALPL | c.960G>A (p.Leu320=) c.73-1971G>A c.729G>A (p.Leu243=) c.795G>A (p.Leu265=) c.804G>A (p.Leu268=) | |
1 | g.21573762G>C | CA416532663 | ALPL | c.960G>C (p.Leu320=) c.73-1971G>C c.729G>C (p.Leu243=) c.795G>C (p.Leu265=) c.804G>C (p.Leu268=) | |
1 | g.21573762G>T | CA416532664 | ALPL | c.960G>T (p.Leu320=) c.73-1971G>T c.729G>T (p.Leu243=) c.795G>T (p.Leu265=) c.804G>T (p.Leu268=) | |
1 | g.21573763_21573764del | CA913072853 | ALPL | c.961_962del (p.Arg321GlufsTer16) c.73-1970_73-1969del c.730_731del (p.Arg244GlufsTer16) c.796_797del (p.Arg266GlufsTer16) c.961_962del (p.Arg321GlufsTer20) c.805_806del (p.Arg269GlufsTer16) | |
1 | g.21573762_21573763insAT | CA2568446271 | ALPL | c.960_961insAT (p.Arg321IlefsTer?) c.73-1971_73-1970insAT c.729_730insAT (p.Arg244IlefsTer?) c.795_796insAT (p.Arg266IlefsTer?) c.804_805insAT (p.Arg269IlefsTer?) | |
1 | g.21573763C>A | CA416532666 | ALPL | c.961C>A (p.Arg321=) c.73-1970C>A c.730C>A (p.Arg244=) c.796C>A (p.Arg266=) c.805C>A (p.Arg269=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573763C= | CA1143396778 | ALPL | c.961C= (p.Arg321=) c.73-1970C= c.730C= (p.Arg244=) c.796C= (p.Arg266=) c.805C= (p.Arg269=) | |
1 | g.21573763C>G | CA338880368 | ALPL | c.961C>G (p.Arg321Gly) c.73-1970C>G c.730C>G (p.Arg244Gly) c.796C>G (p.Arg266Gly) c.805C>G (p.Arg269Gly) | |
1 | g.21573763C>T | CA666689 | ALPL | c.961C>T (p.Arg321Trp) c.73-1970C>T c.730C>T (p.Arg244Trp) c.796C>T (p.Arg266Trp) c.805C>T (p.Arg269Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573763_21573764delinsCG | CA1158018355 | ALPL | c.961_962delinsCG (p.Arg321=) c.73-1970_73-1969delinsCG c.730_731delinsCG (p.Arg244=) c.796_797delinsCG (p.Arg266=) c.805_806delinsCG (p.Arg269=) | |
1 | g.21573764G>A | CA666690 | ALPL | c.962G>A (p.Arg321Gln) c.73-1969G>A c.731G>A (p.Arg244Gln) c.797G>A (p.Arg266Gln) c.806G>A (p.Arg269Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573764G>C | CA338880369 | ALPL | c.962G>C (p.Arg321Pro) c.73-1969G>C c.731G>C (p.Arg244Pro) c.797G>C (p.Arg266Pro) c.806G>C (p.Arg269Pro) | |
1 | g.21573764G= | CA1141632265 | ALPL | c.962G= (p.Arg321=) c.73-1969G= c.731G= (p.Arg244=) c.797G= (p.Arg266=) c.806G= (p.Arg269=) | |
1 | g.21573764G>T | CA338880370 | ALPL | c.962G>T (p.Arg321Leu) c.73-1969G>T c.731G>T (p.Arg244Leu) c.797G>T (p.Arg266Leu) c.806G>T (p.Arg269Leu) | |
1 | g.21573765dup | CA2643931028 | ALPL | c.963dup (p.Lys322GlufsTer16) c.73-1968dup c.732dup (p.Lys245GlufsTer16) c.798dup (p.Lys267GlufsTer16) c.963dup (p.Lys322GlufsTer20) c.807dup (p.Lys270GlufsTer16) | gnomAD v4 |
1 | g.21573765del | CA658820989 | ALPL | c.963del (p.Lys322ArgfsTer?) c.73-1968del c.732del (p.Lys245ArgfsTer?) c.798del (p.Lys267ArgfsTer?) c.807del (p.Lys270ArgfsTer?) | ClinVar dbSNP |
1 | g.21573764_21573767delinsGGAA | CA1158018356 | ALPL | c.962_965delinsGGAA (p.Arg321=) c.73-1969_73-1966delinsGGAA c.731_734delinsGGAA (p.Arg244=) c.797_800delinsGGAA (p.Arg266=) c.806_809delinsGGAA (p.Arg269=) | |
1 | g.21573765G>A | CA666691 | ALPL | c.963G>A (p.Arg321=) c.73-1968G>A c.732G>A (p.Arg244=) c.798G>A (p.Arg266=) c.807G>A (p.Arg269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573765G>C | CA416532670 | ALPL | c.963G>C (p.Arg321=) c.73-1968G>C c.732G>C (p.Arg244=) c.798G>C (p.Arg266=) c.807G>C (p.Arg269=) | |
1 | g.21573765G= | CA1158018357 | ALPL | c.963G= (p.Arg321=) c.73-1968G= c.732G= (p.Arg244=) c.798G= (p.Arg266=) c.807G= (p.Arg269=) | |
1 | g.21573765G>T | CA416532669 | ALPL | c.963G>T (p.Arg321=) c.73-1968G>T c.732G>T (p.Arg244=) c.798G>T (p.Arg266=) c.807G>T (p.Arg269=) | |
1 | g.21573768_21573770del | CA731314557 | ALPL | c.966_968del (p.Lys322del) c.73-1965_73-1963del c.735_737del (p.Lys245del) c.801_803del (p.Lys267del) c.810_812del (p.Lys270del) | dbSNP gnomAD v4 |
1 | g.21573766A>C | CA338880371 | ALPL | c.964A>C (p.Lys322Gln) c.73-1967A>C c.733A>C (p.Lys245Gln) c.799A>C (p.Lys267Gln) c.808A>C (p.Lys270Gln) | |
1 | g.21573766A>G | CA338880372 | ALPL | c.964A>G (p.Lys322Glu) c.73-1967A>G c.733A>G (p.Lys245Glu) c.799A>G (p.Lys267Glu) c.808A>G (p.Lys270Glu) | |
1 | g.21573766A>T | CA338880373 | ALPL | c.964A>T (p.Lys322Ter) c.73-1967A>T c.733A>T (p.Lys245Ter) c.799A>T (p.Lys267Ter) c.808A>T (p.Lys270Ter) | |
1 | g.21573767A>C | CA338880374 | ALPL | c.965A>C (p.Lys322Thr) c.73-1966A>C c.734A>C (p.Lys245Thr) c.800A>C (p.Lys267Thr) c.809A>C (p.Lys270Thr) | |
1 | g.21573767A>G | CA338880375 | ALPL | c.965A>G (p.Lys322Arg) c.73-1966A>G c.734A>G (p.Lys245Arg) c.800A>G (p.Lys267Arg) c.809A>G (p.Lys270Arg) | |
1 | g.21573767A>T | CA338880376 | ALPL | c.965A>T (p.Lys322Met) c.73-1966A>T c.734A>T (p.Lys245Met) c.800A>T (p.Lys267Met) c.809A>T (p.Lys270Met) | |
1 | g.21573768G>A | CA666692 | ALPL | c.966G>A (p.Lys322=) c.73-1965G>A c.735G>A (p.Lys245=) c.801G>A (p.Lys267=) c.810G>A (p.Lys270=) | dbSNP ExAC gnomAD v2 |
1 | g.21573768G>C | CA338880378 | ALPL | c.966G>C (p.Lys322Asn) c.73-1965G>C c.735G>C (p.Lys245Asn) c.801G>C (p.Lys267Asn) c.810G>C (p.Lys270Asn) | |
1 | g.21573768G= | CA1158018358 | ALPL | c.966G= (p.Lys322=) c.73-1965G= c.735G= (p.Lys245=) c.801G= (p.Lys267=) c.810G= (p.Lys270=) | |
1 | g.21573768G>T | CA338880377 | ALPL | c.966G>T (p.Lys322Asn) c.73-1965G>T c.735G>T (p.Lys245Asn) c.801G>T (p.Lys267Asn) c.810G>T (p.Lys270Asn) | |
1 | g.21573769A>C | CA338880379 | ALPL | c.967A>C (p.Asn323His) c.73-1964A>C c.736A>C (p.Asn246His) c.802A>C (p.Asn268His) c.811A>C (p.Asn271His) | |
1 | g.21573769A>G | CA338880380 | ALPL | c.967A>G (p.Asn323Asp) c.73-1964A>G c.736A>G (p.Asn246Asp) c.802A>G (p.Asn268Asp) c.811A>G (p.Asn271Asp) | ClinVar dbSNP |
1 | g.21573769A>T | CA338880381 | ALPL | c.967A>T (p.Asn323Tyr) c.73-1964A>T c.736A>T (p.Asn246Tyr) c.802A>T (p.Asn268Tyr) c.811A>T (p.Asn271Tyr) | |
1 | g.21573770A>C | CA338880382 | ALPL | c.968A>C (p.Asn323Thr) c.73-1963A>C c.737A>C (p.Asn246Thr) c.803A>C (p.Asn268Thr) c.812A>C (p.Asn271Thr) | |
1 | g.21573770A>G | CA338880383 | ALPL | c.968A>G (p.Asn323Ser) c.73-1963A>G c.737A>G (p.Asn246Ser) c.803A>G (p.Asn268Ser) c.812A>G (p.Asn271Ser) | |
1 | g.21573770A>T | CA338880384 | ALPL | c.968A>T (p.Asn323Ile) c.73-1963A>T c.737A>T (p.Asn246Ile) c.803A>T (p.Asn268Ile) c.812A>T (p.Asn271Ile) | ClinVar dbSNP |
1 | g.21573771C>A | CA338880386 | ALPL | c.969C>A (p.Asn323Lys) c.73-1962C>A c.738C>A (p.Asn246Lys) c.804C>A (p.Asn268Lys) c.813C>A (p.Asn271Lys) | ClinVar gnomAD v4 |
1 | g.21573771C>G | CA338880385 | ALPL | c.969C>G (p.Asn323Lys) c.73-1962C>G c.738C>G (p.Asn246Lys) c.804C>G (p.Asn268Lys) c.813C>G (p.Asn271Lys) | ClinVar |
1 | g.21573771C>T | CA416532676 | ALPL | c.969C>T (p.Asn323=) c.73-1962C>T c.738C>T (p.Asn246=) c.804C>T (p.Asn268=) c.813C>T (p.Asn271=) | ClinVar dbSNP gnomAD v4 |
1 | g.21573774dup | CA2841021464 | ALPL | c.972dup (p.Lys325GlnfsTer13) c.73-1959dup c.741dup (p.Lys248GlnfsTer13) c.807dup (p.Lys270GlnfsTer13) c.972dup (p.Lys325GlnfsTer17) c.816dup (p.Lys273GlnfsTer13) | |
1 | g.21573772C>A | CA338880387 | ALPL | c.970C>A (p.Pro324Thr) c.73-1961C>A c.739C>A (p.Pro247Thr) c.805C>A (p.Pro269Thr) c.814C>A (p.Pro272Thr) | |
1 | g.21573772C= | CA1158018359 | ALPL | c.970C= (p.Pro324=) c.73-1961C= c.739C= (p.Pro247=) c.805C= (p.Pro269=) c.814C= (p.Pro272=) | |
1 | g.21573772C>G | CA338880388 | ALPL | c.970C>G (p.Pro324Ala) c.73-1961C>G c.739C>G (p.Pro247Ala) c.805C>G (p.Pro269Ala) c.814C>G (p.Pro272Ala) | ClinVar dbSNP |
1 | g.21573772C>T | CA338880390 | ALPL | c.970C>T (p.Pro324Ser) c.73-1961C>T c.739C>T (p.Pro247Ser) c.805C>T (p.Pro269Ser) c.814C>T (p.Pro272Ser) | |
1 | g.21573773C>A | CA338880391 | ALPL | c.971C>A (p.Pro324His) c.73-1960C>A c.740C>A (p.Pro247His) c.806C>A (p.Pro269His) c.815C>A (p.Pro272His) | |
1 | g.21573773C>G | CA338880392 | ALPL | c.971C>G (p.Pro324Arg) c.73-1960C>G c.740C>G (p.Pro247Arg) c.806C>G (p.Pro269Arg) c.815C>G (p.Pro272Arg) | gnomAD v4 |
1 | g.21573773C>T | CA338880393 | ALPL | c.971C>T (p.Pro324Leu) c.73-1960C>T c.740C>T (p.Pro247Leu) c.806C>T (p.Pro269Leu) c.815C>T (p.Pro272Leu) | gnomAD v4 |
1 | g.21573774C>A | CA416532680 | ALPL | c.972C>A (p.Pro324=) c.73-1959C>A c.741C>A (p.Pro247=) c.807C>A (p.Pro269=) c.816C>A (p.Pro272=) | |
1 | g.21573774C>G | CA416532678 | ALPL | c.972C>G (p.Pro324=) c.73-1959C>G c.741C>G (p.Pro247=) c.807C>G (p.Pro269=) c.816C>G (p.Pro272=) | |
1 | g.21573774C>T | CA416532679 | ALPL | c.972C>T (p.Pro324=) c.73-1959C>T c.741C>T (p.Pro247=) c.807C>T (p.Pro269=) c.816C>T (p.Pro272=) | |
1 | g.21573775A>C | CA338880394 | ALPL | c.973A>C (p.Lys325Gln) c.73-1958A>C c.742A>C (p.Lys248Gln) c.808A>C (p.Lys270Gln) c.817A>C (p.Lys273Gln) | |
1 | g.21573775A>G | CA338880396 | ALPL | c.973A>G (p.Lys325Glu) c.73-1958A>G c.742A>G (p.Lys248Glu) c.808A>G (p.Lys270Glu) c.817A>G (p.Lys273Glu) | |
1 | g.21573775A>T | CA338880395 | ALPL | c.973A>T (p.Lys325Ter) c.73-1958A>T c.742A>T (p.Lys248Ter) c.808A>T (p.Lys270Ter) c.817A>T (p.Lys273Ter) | |
1 | g.21573776A>C | CA338880397 | ALPL | c.974A>C (p.Lys325Thr) c.73-1957A>C c.743A>C (p.Lys248Thr) c.809A>C (p.Lys270Thr) c.818A>C (p.Lys273Thr) | |
1 | g.21573776A>G | CA338880398 | ALPL | c.974A>G (p.Lys325Arg) c.73-1957A>G c.743A>G (p.Lys248Arg) c.809A>G (p.Lys270Arg) c.818A>G (p.Lys273Arg) | |
1 | g.21573776A>T | CA338880399 | ALPL | c.974A>T (p.Lys325Ile) c.73-1957A>T c.743A>T (p.Lys248Ile) c.809A>T (p.Lys270Ile) c.818A>T (p.Lys273Ile) | |
1 | g.21573777A>C | CA338880400 | ALPL | c.975A>C (p.Lys325Asn) c.73-1956A>C c.744A>C (p.Lys248Asn) c.810A>C (p.Lys270Asn) c.819A>C (p.Lys273Asn) | |
1 | g.21573777A>G | CA416532681 | ALPL | c.975A>G (p.Lys325=) c.73-1956A>G c.744A>G (p.Lys248=) c.810A>G (p.Lys270=) c.819A>G (p.Lys273=) | |
1 | g.21573777A>T | CA338880401 | ALPL | c.975A>T (p.Lys325Asn) c.73-1956A>T c.744A>T (p.Lys248Asn) c.810A>T (p.Lys270Asn) c.819A>T (p.Lys273Asn) | COSMIC |
1 | g.21573778G>A | CA338880402 | ALPL | c.976G>A (p.Gly326Ser) c.73-1955G>A c.745G>A (p.Gly249Ser) c.811G>A (p.Gly271Ser) c.820G>A (p.Gly274Ser) | |
1 | g.21573778G>C | CA338880403 | ALPL | c.976G>C (p.Gly326Arg) c.73-1955G>C c.745G>C (p.Gly249Arg) c.811G>C (p.Gly271Arg) c.820G>C (p.Gly274Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.21573778G= | CA1158018360 | ALPL | c.976G= (p.Gly326=) c.73-1955G= c.745G= (p.Gly249=) c.811G= (p.Gly271=) c.820G= (p.Gly274=) | |
1 | g.21573778G>T | CA338880404 | ALPL | c.976G>T (p.Gly326Cys) c.73-1955G>T c.745G>T (p.Gly249Cys) c.811G>T (p.Gly271Cys) c.820G>T (p.Gly274Cys) | |
1 | g.21573779G>A | CA338880405 | ALPL | c.977G>A (p.Gly326Asp) c.73-1954G>A c.746G>A (p.Gly249Asp) c.812G>A (p.Gly271Asp) c.821G>A (p.Gly274Asp) | |
1 | g.21573779G>C | CA338880406 | ALPL | c.977G>C (p.Gly326Ala) c.73-1954G>C c.746G>C (p.Gly249Ala) c.812G>C (p.Gly271Ala) c.821G>C (p.Gly274Ala) | |
1 | g.21573779G= | CA1148264970 | ALPL | c.977G= (p.Gly326=) c.73-1954G= c.746G= (p.Gly249=) c.812G= (p.Gly271=) c.821G= (p.Gly274=) | |
1 | g.21573779G>T | CA666694 | ALPL | c.977G>T (p.Gly326Val) c.73-1954G>T c.746G>T (p.Gly249Val) c.812G>T (p.Gly271Val) c.821G>T (p.Gly274Val) | dbSNP ExAC gnomAD v2 |
1 | g.21573779_21573782delinsGCTT | CA1158018361 | ALPL | c.977_980delinsGCTT (p.Gly326=) c.73-1954_73-1951delinsGCTT c.746_749delinsGCTT (p.Gly249=) c.812_815delinsGCTT (p.Gly271=) c.821_824delinsGCTT (p.Gly274=) | |
1 | g.21573780C>A | CA416532683 | ALPL | c.978C>A (p.Gly326=) c.73-1953C>A c.747C>A (p.Gly249=) c.813C>A (p.Gly271=) c.822C>A (p.Gly274=) | |
1 | g.21573780C>G | CA416532684 | ALPL | c.978C>G (p.Gly326=) c.73-1953C>G c.747C>G (p.Gly249=) c.813C>G (p.Gly271=) c.822C>G (p.Gly274=) | |
1 | g.21573780C>T | CA416532685 | ALPL | c.978C>T (p.Gly326=) c.73-1953C>T c.747C>T (p.Gly249=) c.813C>T (p.Gly271=) c.822C>T (p.Gly274=) | gnomAD v4 |
1 | g.21573786_21573788del | CA666693 | ALPL | c.984_986del (p.Phe328del) c.73-1947_73-1945del c.753_755del (p.Phe251del) c.819_821del (p.Phe273del) c.828_830del (p.Phe276del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573781T>A | CA338880407 | ALPL | c.979T>A (p.Phe327Ile) c.73-1952T>A c.748T>A (p.Phe250Ile) c.814T>A (p.Phe272Ile) c.823T>A (p.Phe275Ile) | |
1 | g.21573781T>C | CA256930 | ALPL | c.979T>C (p.Phe327Leu) c.73-1952T>C c.748T>C (p.Phe250Leu) c.814T>C (p.Phe272Leu) c.823T>C (p.Phe275Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573781T>G | CA338880408 | ALPL | c.979T>G (p.Phe327Val) c.73-1952T>G c.748T>G (p.Phe250Val) c.814T>G (p.Phe272Val) c.823T>G (p.Phe275Val) | gnomAD v4 |
1 | g.21573781T= | CA1141580645 | ALPL | c.979T= (p.Phe327=) c.73-1952T= c.748T= (p.Phe250=) c.814T= (p.Phe272=) c.823T= (p.Phe275=) | |
1 | g.21573781_21573782delinsGG | CA2580061457 | ALPL | c.979_980delinsGG (p.Phe327Gly) c.73-1952_73-1951delinsGG c.748_749delinsGG (p.Phe250Gly) c.814_815delinsGG (p.Phe272Gly) c.823_824delinsGG (p.Phe275Gly) | ClinVar |
1 | g.21573782T>A | CA338880409 | ALPL | c.980T>A (p.Phe327Tyr) c.73-1951T>A c.749T>A (p.Phe250Tyr) c.815T>A (p.Phe272Tyr) c.824T>A (p.Phe275Tyr) | |
1 | g.21573782T>C | CA338880410 | ALPL | c.980T>C (p.Phe327Ser) c.73-1951T>C c.749T>C (p.Phe250Ser) c.815T>C (p.Phe272Ser) c.824T>C (p.Phe275Ser) | |
1 | g.21573782T>G | CA666695 | ALPL | c.980T>G (p.Phe327Cys) c.73-1951T>G c.749T>G (p.Phe250Cys) c.815T>G (p.Phe272Cys) c.824T>G (p.Phe275Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573782T= | CA1158018362 | ALPL | c.980T= (p.Phe327=) c.73-1951T= c.749T= (p.Phe250=) c.815T= (p.Phe272=) c.824T= (p.Phe275=) | |
1 | g.21573783C>A | CA338880411 | ALPL | c.981C>A (p.Phe327Leu) c.73-1950C>A c.750C>A (p.Phe250Leu) c.816C>A (p.Phe272Leu) c.825C>A (p.Phe275Leu) | gnomAD v4 |
1 | g.21573783C>G | CA338880412 | ALPL | c.981C>G (p.Phe327Leu) c.73-1950C>G c.750C>G (p.Phe250Leu) c.816C>G (p.Phe272Leu) c.825C>G (p.Phe275Leu) | ClinVar |
1 | g.21573783C>T | CA416532686 | ALPL | c.981C>T (p.Phe327=) c.73-1950C>T c.750C>T (p.Phe250=) c.816C>T (p.Phe272=) c.825C>T (p.Phe275=) | gnomAD v4 |
1 | g.21573784T>A | CA338880413 | ALPL | c.982T>A (p.Phe328Ile) c.73-1949T>A c.751T>A (p.Phe251Ile) c.817T>A (p.Phe273Ile) c.826T>A (p.Phe276Ile) | |
1 | g.21573784T>C | CA338880414 | ALPL | c.982T>C (p.Phe328Leu) c.73-1949T>C c.751T>C (p.Phe251Leu) c.817T>C (p.Phe273Leu) c.826T>C (p.Phe276Leu) | |
1 | g.21573784T>G | CA338880415 | ALPL | c.982T>G (p.Phe328Val) c.73-1949T>G c.751T>G (p.Phe251Val) c.817T>G (p.Phe273Val) c.826T>G (p.Phe276Val) | |
1 | g.21573785T>A | CA338880416 | ALPL | c.983T>A (p.Phe328Tyr) c.73-1948T>A c.752T>A (p.Phe251Tyr) c.818T>A (p.Phe273Tyr) c.827T>A (p.Phe276Tyr) | |
1 | g.21573785T>C | CA338880417 | ALPL | c.983T>C (p.Phe328Ser) c.73-1948T>C c.752T>C (p.Phe251Ser) c.818T>C (p.Phe273Ser) c.827T>C (p.Phe276Ser) | |
1 | g.21573785T>G | CA338880418 | ALPL | c.983T>G (p.Phe328Cys) c.73-1948T>G c.752T>G (p.Phe251Cys) c.818T>G (p.Phe273Cys) c.827T>G (p.Phe276Cys) | |
1 | g.21573786C>A | CA338880419 | ALPL | c.984C>A (p.Phe328Leu) c.73-1947C>A c.753C>A (p.Phe251Leu) c.819C>A (p.Phe273Leu) c.828C>A (p.Phe276Leu) | |
1 | g.21573786C= | CA1158018363 | ALPL | c.984C= (p.Phe328=) c.73-1947C= c.753C= (p.Phe251=) c.819C= (p.Phe273=) c.828C= (p.Phe276=) | |
1 | g.21573786C>G | CA338880420 | ALPL | c.984C>G (p.Phe328Leu) c.73-1947C>G c.753C>G (p.Phe251Leu) c.819C>G (p.Phe273Leu) c.828C>G (p.Phe276Leu) | ClinVar gnomAD v4 |
1 | g.21573786C>T | CA416532687 | ALPL | c.984C>T (p.Phe328=) c.73-1947C>T c.753C>T (p.Phe251=) c.819C>T (p.Phe273=) c.828C>T (p.Phe276=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573787T>A | CA338880421 | ALPL | c.985T>A (p.Leu329Met) c.73-1946T>A c.754T>A (p.Leu252Met) c.820T>A (p.Leu274Met) c.829T>A (p.Leu277Met) | |
1 | g.21573787T>C | CA416532689 | ALPL | c.985T>C (p.Leu329=) c.73-1946T>C c.754T>C (p.Leu252=) c.820T>C (p.Leu274=) c.829T>C (p.Leu277=) | gnomAD v4 |
1 | g.21573787T>G | CA338880422 | ALPL | c.985T>G (p.Leu329Val) c.73-1946T>G c.754T>G (p.Leu252Val) c.820T>G (p.Leu274Val) c.829T>G (p.Leu277Val) | |
1 | g.21573788T>A | CA338880425 | ALPL | c.986T>A (p.Leu329Ter) c.73-1945T>A c.755T>A (p.Leu252Ter) c.821T>A (p.Leu274Ter) c.830T>A (p.Leu277Ter) | |
1 | g.21573788T>C | CA338880423 | ALPL | c.986T>C (p.Leu329Ser) c.73-1945T>C c.755T>C (p.Leu252Ser) c.821T>C (p.Leu274Ser) c.830T>C (p.Leu277Ser) | |
1 | g.21573788T>G | CA338880424 | ALPL | c.986T>G (p.Leu329Trp) c.73-1945T>G c.755T>G (p.Leu252Trp) c.821T>G (p.Leu274Trp) c.830T>G (p.Leu277Trp) | |
1 | g.21573789G>A | CA416532690 | ALPL | c.987G>A (p.Leu329=) c.73-1944G>A c.756G>A (p.Leu252=) c.822G>A (p.Leu274=) c.831G>A (p.Leu277=) | |
1 | g.21573789G>C | CA338880426 | ALPL | c.987G>C (p.Leu329Phe) c.73-1944G>C c.756G>C (p.Leu252Phe) c.822G>C (p.Leu274Phe) c.831G>C (p.Leu277Phe) | |
1 | g.21573789G>T | CA338880427 | ALPL | c.987G>T (p.Leu329Phe) c.73-1944G>T c.756G>T (p.Leu252Phe) c.822G>T (p.Leu274Phe) c.831G>T (p.Leu277Phe) | |
1 | g.21573790C>A | CA338880428 | ALPL | c.988C>A (p.Leu330Met) c.73-1943C>A c.757C>A (p.Leu253Met) c.823C>A (p.Leu275Met) c.832C>A (p.Leu278Met) | |
1 | g.21573790C= | CA1158018364 | ALPL | c.988C= (p.Leu330=) c.73-1943C= c.757C= (p.Leu253=) c.823C= (p.Leu275=) c.832C= (p.Leu278=) | |
1 | g.21573790C>G | CA338880429 | ALPL | c.988C>G (p.Leu330Val) c.73-1943C>G c.757C>G (p.Leu253Val) c.823C>G (p.Leu275Val) c.832C>G (p.Leu278Val) | dbSNP |
1 | g.21573790C>T | CA416532691 | ALPL | c.988C>T (p.Leu330=) c.73-1943C>T c.757C>T (p.Leu253=) c.823C>T (p.Leu275=) c.832C>T (p.Leu278=) | |
1 | g.21573791T>A | CA338880430 | ALPL | c.989T>A (p.Leu330Gln) c.73-1942T>A c.758T>A (p.Leu253Gln) c.824T>A (p.Leu275Gln) c.833T>A (p.Leu278Gln) | |
1 | g.21573791T>C | CA338880431 | ALPL | c.989T>C (p.Leu330Pro) c.73-1942T>C c.758T>C (p.Leu253Pro) c.824T>C (p.Leu275Pro) c.833T>C (p.Leu278Pro) | gnomAD v4 |
1 | g.21573791T>G | CA338880432 | ALPL | c.989T>G (p.Leu330Arg) c.73-1942T>G c.758T>G (p.Leu253Arg) c.824T>G (p.Leu275Arg) c.833T>G (p.Leu278Arg) | |
1 | g.21573792G>A | CA666696 | ALPL | c.990G>A (p.Leu330=) c.73-1941G>A c.759G>A (p.Leu253=) c.825G>A (p.Leu275=) c.834G>A (p.Leu278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573792G>C | CA416532692 | ALPL | c.990G>C (p.Leu330=) c.73-1941G>C c.759G>C (p.Leu253=) c.825G>C (p.Leu275=) c.834G>C (p.Leu278=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573792G= | CA1148439728 | ALPL | c.990G= (p.Leu330=) c.73-1941G= c.759G= (p.Leu253=) c.825G= (p.Leu275=) c.834G= (p.Leu278=) | |
1 | g.21573792G>T | CA416532693 | ALPL | c.990G>T (p.Leu330=) c.73-1941G>T c.759G>T (p.Leu253=) c.825G>T (p.Leu275=) c.834G>T (p.Leu278=) | |
1 | g.21573794_21573804dup | CA2695497926 | ALPL | c.992_997+5dup c.73-1939_73-1929dup c.761_766+5dup c.827_832+5dup c.836_841+5dup | dbSNP |
1 | g.21573793G>A | CA338880433 | ALPL | c.991G>A (p.Val331Met) c.73-1940G>A c.760G>A (p.Val254Met) c.826G>A (p.Val276Met) c.835G>A (p.Val279Met) | |
1 | g.21573793G>C | CA338880434 | ALPL | c.991G>C (p.Val331Leu) c.73-1940G>C c.760G>C (p.Val254Leu) c.826G>C (p.Val276Leu) c.835G>C (p.Val279Leu) | |
1 | g.21573793G>T | CA338880435 | ALPL | c.991G>T (p.Val331Leu) c.73-1940G>T c.760G>T (p.Val254Leu) c.826G>T (p.Val276Leu) c.835G>T (p.Val279Leu) | COSMIC |
1 | g.21573794T>A | CA338880438 | ALPL | c.992T>A (p.Val331Glu) c.73-1939T>A c.761T>A (p.Val254Glu) c.827T>A (p.Val276Glu) c.836T>A (p.Val279Glu) | |
1 | g.21573794T>C | CA338880437 | ALPL | c.992T>C (p.Val331Ala) c.73-1939T>C c.761T>C (p.Val254Ala) c.827T>C (p.Val276Ala) c.836T>C (p.Val279Ala) | |
1 | g.21573794T>G | CA338880436 | ALPL | c.992T>G (p.Val331Gly) c.73-1939T>G c.761T>G (p.Val254Gly) c.827T>G (p.Val276Gly) c.836T>G (p.Val279Gly) | |
1 | g.21573795G>A | CA416532695 | ALPL | c.993G>A (p.Val331=) c.73-1938G>A c.762G>A (p.Val254=) c.828G>A (p.Val276=) c.837G>A (p.Val279=) | |
1 | g.21573795G>C | CA416532696 | ALPL | c.993G>C (p.Val331=) c.73-1938G>C c.762G>C (p.Val254=) c.828G>C (p.Val276=) c.837G>C (p.Val279=) | |
1 | g.21573795G>T | CA416532694 | ALPL | c.993G>T (p.Val331=) c.73-1938G>T c.762G>T (p.Val254=) c.828G>T (p.Val276=) c.837G>T (p.Val279=) | |
1 | g.21573796G>A | CA666697 | ALPL | c.994G>A (p.Glu332Lys) c.73-1937G>A c.763G>A (p.Glu255Lys) c.829G>A (p.Glu277Lys) c.838G>A (p.Glu280Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.21573796G>C | CA338880439 | ALPL | c.994G>C (p.Glu332Gln) c.73-1937G>C c.763G>C (p.Glu255Gln) c.829G>C (p.Glu277Gln) c.838G>C (p.Glu280Gln) | |
1 | g.21573796G= | CA1158018365 | ALPL | c.994G= (p.Glu332=) c.73-1937G= c.763G= (p.Glu255=) c.829G= (p.Glu277=) c.838G= (p.Glu280=) | |
1 | g.21573796G>T | CA338880440 | ALPL | c.994G>T (p.Glu332Ter) c.73-1937G>T c.763G>T (p.Glu255Ter) c.829G>T (p.Glu277Ter) c.838G>T (p.Glu280Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573797A>C | CA338880441 | ALPL | c.995A>C (p.Glu332Ala) c.73-1936A>C c.764A>C (p.Glu255Ala) c.830A>C (p.Glu277Ala) c.839A>C (p.Glu280Ala) | |
1 | g.21573797A>G | CA338880442 | ALPL | c.995A>G (p.Glu332Gly) c.73-1936A>G c.764A>G (p.Glu255Gly) c.830A>G (p.Glu277Gly) c.839A>G (p.Glu280Gly) | |
1 | g.21573797A>T | CA338880443 | ALPL | c.995A>T (p.Glu332Val) c.73-1936A>T c.764A>T (p.Glu255Val) c.830A>T (p.Glu277Val) c.839A>T (p.Glu280Val) | |
1 | g.21573798A= | CA1158018366 | ALPL | c.996A= (p.Glu332=) c.73-1935A= c.765A= (p.Glu255=) c.831A= (p.Glu277=) c.840A= (p.Glu280=) | |
1 | g.21573798A>C | CA338880445 | ALPL | c.996A>C (p.Glu332Asp) c.73-1935A>C c.765A>C (p.Glu255Asp) c.831A>C (p.Glu277Asp) c.840A>C (p.Glu280Asp) | dbSNP |
1 | g.21573798A>G | CA416532697 | ALPL | c.996A>G (p.Glu332=) c.73-1935A>G c.765A>G (p.Glu255=) c.831A>G (p.Glu277=) c.840A>G (p.Glu280=) | |
1 | g.21573798A>T | CA338880444 | ALPL | c.996A>T (p.Glu332Asp) c.73-1935A>T c.765A>T (p.Glu255Asp) c.831A>T (p.Glu277Asp) c.840A>T (p.Glu280Asp) | |
1 | g.21573799G>A | CA338880446 | ALPL | c.997G>A (p.Gly333Arg) c.73-1934G>A c.766G>A (p.Gly256Arg) c.832G>A (p.Gly278Arg) c.841G>A (p.Gly281Arg) | gnomAD v4 |
1 | g.21573799G>C | CA338880447 | ALPL | c.997G>C (p.Gly333Arg) c.73-1934G>C c.766G>C (p.Gly256Arg) c.832G>C (p.Gly278Arg) c.841G>C (p.Gly281Arg) | |
1 | g.21573799G>T | CA338880448 | ALPL | c.997G>T (p.Gly333Ter) c.73-1934G>T c.766G>T (p.Gly256Ter) c.832G>T (p.Gly278Ter) c.841G>T (p.Gly281Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.21573800del | CA2586964059 | ALPL | c.997+1del c.73-1933del c.766+1del c.832+1del c.841+1del | |
1 | g.21573799_21573802delinsGGTA | CA1158018367 | ALPL | c.997_997+3delinsGGTA c.73-1934_73-1931delinsGGTA c.766_766+3delinsGGTA c.832_832+3delinsGGTA c.841_841+3delinsGGTA | |
1 | g.21573800G>A | CA338880449 | ALPL | c.997+1G>A (n.997+1G>A) c.73-1933G>A c.766+1G>A (n.766+1G>A) c.832+1G>A (n.832+1G>A) c.841+1G>A (n.841+1G>A) | gnomAD v4 |
1 | g.21573800G>C | CA338880450 | ALPL | c.997+1G>C (n.997+1G>C) c.73-1933G>C c.766+1G>C (n.766+1G>C) c.832+1G>C (n.832+1G>C) c.841+1G>C (n.841+1G>C) | |
1 | g.21573800G= | CA1158018368 | ALPL | c.997+1G= (n.997+1G=) c.73-1933G= c.766+1G= (n.766+1G=) c.832+1G= (n.832+1G=) c.841+1G= (n.841+1G=) | |
1 | g.21573800G>T | CA338880451 | ALPL | c.997+1G>T (n.997+1G>T) c.73-1933G>T c.766+1G>T (n.766+1G>T) c.832+1G>T (n.832+1G>T) c.841+1G>T (n.841+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573801_21573803del | CA916126600 | ALPL | c.997+2_997+4del (n.997+2_997+4del) c.73-1932_73-1930del c.766+2_766+4del (n.766+2_766+4del) c.832+2_832+4del (n.832+2_832+4del) c.841+2_841+4del (n.841+2_841+4del) | dbSNP |
1 | g.21573801T>A | CA338880452 | ALPL | c.997+2T>A (n.997+2T>A) c.73-1932T>A c.766+2T>A (n.766+2T>A) c.832+2T>A (n.832+2T>A) c.841+2T>A (n.841+2T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573801T>C | CA338880453 | ALPL | c.997+2T>C (n.997+2T>C) c.73-1932T>C c.766+2T>C (n.766+2T>C) c.832+2T>C (n.832+2T>C) c.841+2T>C (n.841+2T>C) | |
1 | g.21573801T>G | CA16040720 | ALPL | c.997+2T>G (n.997+2T>G) c.73-1932T>G c.766+2T>G (n.766+2T>G) c.832+2T>G (n.832+2T>G) c.841+2T>G (n.841+2T>G) | ClinVar dbSNP |
1 | g.21573801T= | CA1158018369 | ALPL | c.997+2T= (n.997+2T=) c.73-1932T= c.766+2T= (n.766+2T=) c.832+2T= (n.832+2T=) c.841+2T= (n.841+2T=) | |
1 | g.21573802A= | CA1158018370 | ALPL | c.997+3A= (n.997+3A=) c.73-1931A= c.766+3A= (n.766+3A=) c.832+3A= (n.832+3A=) c.841+3A= (n.841+3A=) | |
1 | g.21573802A>C | CA2573130539 | ALPL | c.997+3A>C (n.997+3A>C) c.73-1931A>C c.766+3A>C (n.766+3A>C) c.832+3A>C (n.832+3A>C) c.841+3A>C (n.841+3A>C) | ClinVar dbSNP |
1 | g.21573802A>G | CA658820990 | ALPL | c.997+3A>G (n.997+3A>G) c.73-1931A>G c.766+3A>G (n.766+3A>G) c.832+3A>G (n.832+3A>G) c.841+3A>G (n.841+3A>G) | ClinVar dbSNP |
1 | g.21573803G>A | CA2508612893 | ALPL | c.997+4G>A (n.997+4G>A) c.73-1930G>A c.766+4G>A (n.766+4G>A) c.832+4G>A (n.832+4G>A) c.841+4G>A (n.841+4G>A) | |
1 | g.21573803G>C | CA521577932 | ALPL | c.997+4G>C (n.997+4G>C) c.73-1930G>C c.766+4G>C (n.766+4G>C) c.832+4G>C (n.832+4G>C) c.841+4G>C (n.841+4G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573803G= | CA1158018371 | ALPL | c.997+4G= (n.997+4G=) c.73-1930G= c.766+4G= (n.766+4G=) c.832+4G= (n.832+4G=) c.841+4G= (n.841+4G=) | |
1 | g.21573804G>A | CA521577933 | ALPL | c.997+5G>A (n.997+5G>A) c.73-1929G>A c.766+5G>A (n.766+5G>A) c.832+5G>A (n.832+5G>A) c.841+5G>A (n.841+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573804G= | CA1158018372 | ALPL | c.997+5G= (n.997+5G=) c.73-1929G= c.766+5G= (n.766+5G=) c.832+5G= (n.832+5G=) c.841+5G= (n.841+5G=) | |
1 | g.21573806A>G | CA2695497956 | ALPL | c.997+7A>G (n.997+7A>G) c.73-1927A>G c.766+7A>G (n.766+7A>G) c.832+7A>G (n.832+7A>G) c.841+7A>G (n.841+7A>G) | dbSNP |
1 | g.21573807C>A | CA521577934 | ALPL | c.997+8C>A (n.997+8C>A) c.73-1926C>A c.766+8C>A (n.766+8C>A) c.832+8C>A (n.832+8C>A) c.841+8C>A (n.841+8C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573807C= | CA1158018373 | ALPL | c.997+8C= (n.997+8C=) c.73-1926C= c.766+8C= (n.766+8C=) c.832+8C= (n.832+8C=) c.841+8C= (n.841+8C=) | |
1 | g.21573807C>G | CA2574252988 | ALPL | c.997+8C>G (n.997+8C>G) c.73-1926C>G c.766+8C>G (n.766+8C>G) c.832+8C>G (n.832+8C>G) c.841+8C>G (n.841+8C>G) | |
1 | g.21573807C>T | CA2573130540 | ALPL | c.997+8C>T (n.997+8C>T) c.73-1926C>T c.766+8C>T (n.766+8C>T) c.832+8C>T (n.832+8C>T) c.841+8C>T (n.841+8C>T) | ClinVar dbSNP |
1 | g.21573810dup | CA2841555944 | ALPL | c.997+11dup (n.997+11dup) c.73-1923dup c.766+11dup (n.766+11dup) c.832+11dup (n.832+11dup) c.841+11dup (n.841+11dup) | |
1 | g.21573808C>A | CA2643931029 | ALPL | c.997+9C>A (n.997+9C>A) c.73-1925C>A c.766+9C>A (n.766+9C>A) c.832+9C>A (n.832+9C>A) c.841+9C>A (n.841+9C>A) | gnomAD v4 |
1 | g.21573808C>T | CA2499214462 | ALPL | c.997+9C>T (n.997+9C>T) c.73-1925C>T c.766+9C>T (n.766+9C>T) c.832+9C>T (n.832+9C>T) c.841+9C>T (n.841+9C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.21573809C= | CA1143735363 | ALPL | c.997+10C= (n.997+10C=) c.73-1924C= c.766+10C= (n.766+10C=) c.832+10C= (n.832+10C=) c.841+10C= (n.841+10C=) | |
1 | g.21573809C>G | CA731314657 | ALPL | c.997+10C>G (n.997+10C>G) c.73-1924C>G c.766+10C>G (n.766+10C>G) c.832+10C>G (n.832+10C>G) c.841+10C>G (n.841+10C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.21573809C>T | CA666698 | ALPL | c.997+10C>T (n.997+10C>T) c.73-1924C>T c.766+10C>T (n.766+10C>T) c.832+10C>T (n.832+10C>T) c.841+10C>T (n.841+10C>T) | dbSNP ExAC gnomAD v2 |
1 | g.21573810C= | CA1142907275 | ALPL | c.997+11C= (n.997+11C=) c.73-1923C= c.766+11C= (n.766+11C=) c.832+11C= (n.832+11C=) c.841+11C= (n.841+11C=) | |
1 | g.21573810C>G | CA999409730 | ALPL | c.997+11C>G (n.997+11C>G) c.73-1923C>G c.766+11C>G (n.766+11C>G) c.832+11C>G (n.832+11C>G) c.841+11C>G (n.841+11C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573810C>T | CA666699 | ALPL | c.997+11C>T (n.997+11C>T) c.73-1923C>T c.766+11C>T (n.766+11C>T) c.832+11C>T (n.832+11C>T) c.841+11C>T (n.841+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573811G>A | CA666700 | ALPL | c.997+12G>A (n.997+12G>A) c.73-1922G>A c.766+12G>A (n.766+12G>A) c.832+12G>A (n.832+12G>A) c.841+12G>A (n.841+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573811G= | CA1143554584 | ALPL | c.997+12G= (n.997+12G=) c.73-1922G= c.766+12G= (n.766+12G=) c.832+12G= (n.832+12G=) c.841+12G= (n.841+12G=) | |
1 | g.21573811G>T | CA521577935 | ALPL | c.997+12G>T (n.997+12G>T) c.73-1922G>T c.766+12G>T (n.766+12G>T) c.832+12G>T (n.832+12G>T) c.841+12G>T (n.841+12G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573812G>C | CA2574252994 | ALPL | c.997+13G>C (n.997+13G>C) c.73-1921G>C c.766+13G>C (n.766+13G>C) c.832+13G>C (n.832+13G>C) c.841+13G>C (n.841+13G>C) | |
1 | g.21573812G= | CA1158018374 | ALPL | c.997+13G= (n.997+13G=) c.73-1921G= c.766+13G= (n.766+13G=) c.832+13G= (n.832+13G=) c.841+13G= (n.841+13G=) | |
1 | g.21573812G>T | CA731314667 | ALPL | c.997+13G>T (n.997+13G>T) c.73-1921G>T c.766+13G>T (n.766+13G>T) c.832+13G>T (n.832+13G>T) c.841+13G>T (n.841+13G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573813G>A | CA2643931030 | ALPL | c.997+14G>A (n.997+14G>A) c.73-1920G>A c.766+14G>A (n.766+14G>A) c.832+14G>A (n.832+14G>A) c.841+14G>A (n.841+14G>A) | gnomAD v4 |
1 | g.21573813G>C | CA521577936 | ALPL | c.997+14G>C (n.997+14G>C) c.73-1920G>C c.766+14G>C (n.766+14G>C) c.832+14G>C (n.832+14G>C) c.841+14G>C (n.841+14G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573813G= | CA1158018375 | ALPL | c.997+14G= (n.997+14G=) c.73-1920G= c.766+14G= (n.766+14G=) c.832+14G= (n.832+14G=) c.841+14G= (n.841+14G=) | |
1 | g.21573814T>C | CA731314690 | ALPL | c.997+15T>C (n.997+15T>C) c.73-1919T>C c.766+15T>C (n.766+15T>C) c.832+15T>C (n.832+15T>C) c.841+15T>C (n.841+15T>C) | dbSNP |
1 | g.21573814T= | CA1158018376 | ALPL | c.997+15T= (n.997+15T=) c.73-1919T= c.766+15T= (n.766+15T=) c.832+15T= (n.832+15T=) c.841+15T= (n.841+15T=) | |
1 | g.21573814dup | CA2838209759 | ALPL | c.997+15dup (n.997+15dup) c.73-1919dup c.766+15dup (n.766+15dup) c.832+15dup (n.832+15dup) c.841+15dup (n.841+15dup) | |
1 | g.21573815C>A | CA2643931031 | ALPL | c.997+16C>A (n.997+16C>A) c.73-1918C>A c.766+16C>A (n.766+16C>A) c.832+16C>A (n.832+16C>A) c.841+16C>A (n.841+16C>A) | gnomAD v4 |
1 | g.21573815C>G | CA2740090519 | ALPL | c.997+16C>G (n.997+16C>G) c.73-1918C>G c.766+16C>G (n.766+16C>G) c.832+16C>G (n.832+16C>G) c.841+16C>G (n.841+16C>G) | ClinVar |
1 | g.21573815C>T | CA2643931032 | ALPL | c.997+16C>T (n.997+16C>T) c.73-1918C>T c.766+16C>T (n.766+16C>T) c.832+16C>T (n.832+16C>T) c.841+16C>T (n.841+16C>T) | gnomAD v4 |
1 | g.21573816T>A | CA1158018378 | ALPL | c.997+17T>A (n.997+17T>A) c.73-1917T>A c.766+17T>A (n.766+17T>A) c.832+17T>A (n.832+17T>A) c.841+17T>A (n.841+17T>A) | dbSNP gnomAD v4 |
1 | g.21573816T>C | CA521577937 | ALPL | c.997+17T>C (n.997+17T>C) c.73-1917T>C c.766+17T>C (n.766+17T>C) c.832+17T>C (n.832+17T>C) c.841+17T>C (n.841+17T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573816T>G | CA2643931033 | ALPL | c.997+17T>G (n.997+17T>G) c.73-1917T>G c.766+17T>G (n.766+17T>G) c.832+17T>G (n.832+17T>G) c.841+17T>G (n.841+17T>G) | gnomAD v4 |
1 | g.21573816T= | CA1158018377 | ALPL | c.997+17T= (n.997+17T=) c.73-1917T= c.766+17T= (n.766+17T=) c.832+17T= (n.832+17T=) c.841+17T= (n.841+17T=) | |
1 | g.21573817G>A | CA666701 | ALPL | c.997+18G>A (n.997+18G>A) c.73-1916G>A c.766+18G>A (n.766+18G>A) c.832+18G>A (n.832+18G>A) c.841+18G>A (n.841+18G>A) | dbSNP ExAC gnomAD v4 |
1 | g.21573817G= | CA1158018379 | ALPL | c.997+18G= (n.997+18G=) c.73-1916G= c.766+18G= (n.766+18G=) c.832+18G= (n.832+18G=) c.841+18G= (n.841+18G=) | |
1 | g.21573817G>T | CA2742754147 | ALPL | c.997+18G>T (n.997+18G>T) c.73-1916G>T c.766+18G>T (n.766+18G>T) c.832+18G>T (n.832+18G>T) c.841+18G>T (n.841+18G>T) | |
1 | g.21573818C>A | CA521577938 | ALPL | c.997+19C>A (n.997+19C>A) c.73-1915C>A c.766+19C>A (n.766+19C>A) c.832+19C>A (n.832+19C>A) c.841+19C>A (n.841+19C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573818C= | CA1158018380 | ALPL | c.997+19C= (n.997+19C=) c.73-1915C= c.766+19C= (n.766+19C=) c.832+19C= (n.832+19C=) c.841+19C= (n.841+19C=) | |
1 | g.21573819T>C | CA2573130545 | ALPL | c.997+20T>C (n.997+20T>C) c.73-1914T>C c.766+20T>C (n.766+20T>C) c.832+20T>C (n.832+20T>C) c.841+20T>C (n.841+20T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.21573823_21573824del | CA2643931034 | ALPL | c.997+24_997+25del (n.997+24_997+25del) c.73-1910_73-1909del c.766+24_766+25del (n.766+24_766+25del) c.832+24_832+25del (n.832+24_832+25del) c.841+24_841+25del (n.841+24_841+25del) | gnomAD v4 |
1 | g.21573821A= | CA1158018381 | ALPL | c.997+22A= (n.997+22A=) c.73-1912A= c.766+22A= (n.766+22A=) c.832+22A= (n.832+22A=) c.841+22A= (n.841+22A=) | |
1 | g.21573821A>G | CA521577939 | ALPL | c.997+22A>G (n.997+22A>G) c.73-1912A>G c.766+22A>G (n.766+22A>G) c.832+22A>G (n.832+22A>G) c.841+22A>G (n.841+22A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573824G>A | CA666702 | ALPL | c.997+25G>A (n.997+25G>A) c.73-1909G>A c.766+25G>A (n.766+25G>A) c.832+25G>A (n.832+25G>A) c.841+25G>A (n.841+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573824G>C | CA666703 | ALPL | c.997+25G>C (n.997+25G>C) c.73-1909G>C c.766+25G>C (n.766+25G>C) c.832+25G>C (n.832+25G>C) c.841+25G>C (n.841+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573824G= | CA1158018382 | ALPL | c.997+25G= (n.997+25G=) c.73-1909G= c.766+25G= (n.766+25G=) c.832+25G= (n.832+25G=) c.841+25G= (n.841+25G=) | |
1 | g.21573828dup | CA2742754148 | ALPL | c.997+29dup (n.997+29dup) c.73-1905dup c.766+29dup (n.766+29dup) c.832+29dup (n.832+29dup) c.841+29dup (n.841+29dup) | |
1 | g.21573825G>A | CA2643931036 | ALPL | c.997+26G>A (n.997+26G>A) c.73-1908G>A c.766+26G>A (n.766+26G>A) c.832+26G>A (n.832+26G>A) c.841+26G>A (n.841+26G>A) | gnomAD v4 |
1 | g.21573825G>T | CA2643931035 | ALPL | c.997+26G>T (n.997+26G>T) c.73-1908G>T c.766+26G>T (n.766+26G>T) c.832+26G>T (n.832+26G>T) c.841+26G>T (n.841+26G>T) | gnomAD v4 |
1 | g.21573826G>A | CA666704 | ALPL | c.997+27G>A (n.997+27G>A) c.73-1907G>A c.766+27G>A (n.766+27G>A) c.832+27G>A (n.832+27G>A) c.841+27G>A (n.841+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573826G>C | CA666705 | ALPL | c.997+27G>C (n.997+27G>C) c.73-1907G>C c.766+27G>C (n.766+27G>C) c.832+27G>C (n.832+27G>C) c.841+27G>C (n.841+27G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573826G= | CA1143719532 | ALPL | c.997+27G= (n.997+27G=) c.73-1907G= c.766+27G= (n.766+27G=) c.832+27G= (n.832+27G=) c.841+27G= (n.841+27G=) | |
1 | g.21573828G= | CA1158018383 | ALPL | c.997+29G= (n.997+29G=) c.73-1905G= c.766+29G= (n.766+29G=) c.832+29G= (n.832+29G=) c.841+29G= (n.841+29G=) | |
1 | g.21573828G>T | CA666706 | ALPL | c.997+29G>T (n.997+29G>T) c.73-1905G>T c.766+29G>T (n.766+29G>T) c.832+29G>T (n.832+29G>T) c.841+29G>T (n.841+29G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573830T>C | CA731314734 | ALPL | c.997+31T>C (n.997+31T>C) c.73-1903T>C c.766+31T>C (n.766+31T>C) c.832+31T>C (n.832+31T>C) c.841+31T>C (n.841+31T>C) | dbSNP |
1 | g.21573830T= | CA1158018384 | ALPL | c.997+31T= (n.997+31T=) c.73-1903T= c.766+31T= (n.766+31T=) c.832+31T= (n.832+31T=) c.841+31T= (n.841+31T=) | |
1 | g.21573831G>A | CA521577940 | ALPL | c.997+32G>A (n.997+32G>A) c.73-1902G>A c.766+32G>A (n.766+32G>A) c.832+32G>A (n.832+32G>A) c.841+32G>A (n.841+32G>A) | dbSNP gnomAD v2 |
1 | g.21573831G= | CA1158018385 | ALPL | c.997+32G= (n.997+32G=) c.73-1902G= c.766+32G= (n.766+32G=) c.832+32G= (n.832+32G=) c.841+32G= (n.841+32G=) | |
1 | g.21573832C= | CA1158018386 | ALPL | c.997+33C= (n.997+33C=) c.73-1901C= c.766+33C= (n.766+33C=) c.832+33C= (n.832+33C=) c.841+33C= (n.841+33C=) | |
1 | g.21573832C>T | CA666707 | ALPL | c.997+33C>T (n.997+33C>T) c.73-1901C>T c.766+33C>T (n.766+33C>T) c.832+33C>T (n.832+33C>T) c.841+33C>T (n.841+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573833T>A | CA2643931037 | ALPL | c.997+34T>A (n.997+34T>A) c.73-1900T>A c.766+34T>A (n.766+34T>A) c.832+34T>A (n.832+34T>A) c.841+34T>A (n.841+34T>A) | gnomAD v4 |
1 | g.21573833T>C | CA2643931038 | ALPL | c.997+34T>C (n.997+34T>C) c.73-1900T>C c.766+34T>C (n.766+34T>C) c.832+34T>C (n.832+34T>C) c.841+34T>C (n.841+34T>C) | gnomAD v4 |
1 | g.21573834G>A | CA731314741 | ALPL | c.997+35G>A (n.997+35G>A) c.73-1899G>A c.766+35G>A (n.766+35G>A) c.832+35G>A (n.832+35G>A) c.841+35G>A (n.841+35G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573834G= | CA1158018387 | ALPL | c.997+35G= (n.997+35G=) c.73-1899G= c.766+35G= (n.766+35G=) c.832+35G= (n.832+35G=) c.841+35G= (n.841+35G=) | |
1 | g.21573834G>T | CA2838218912 | ALPL | c.997+35G>T (n.997+35G>T) c.73-1899G>T c.766+35G>T (n.766+35G>T) c.832+35G>T (n.832+35G>T) c.841+35G>T (n.841+35G>T) | |
1 | g.21573835G>T | CA2841555945 | ALPL | c.997+36G>T (n.997+36G>T) c.73-1898G>T c.766+36G>T (n.766+36G>T) c.832+36G>T (n.832+36G>T) c.841+36G>T (n.841+36G>T) | |
1 | g.21573837A>T | CA2742754149 | ALPL | c.997+38A>T (n.997+38A>T) c.73-1896A>T c.766+38A>T (n.766+38A>T) c.832+38A>T (n.832+38A>T) c.841+38A>T (n.841+38A>T) | |
1 | g.21573838A>G | CA2643931039 | ALPL | c.997+39A>G (n.997+39A>G) c.73-1895A>G c.766+39A>G (n.766+39A>G) c.832+39A>G (n.832+39A>G) c.841+39A>G (n.841+39A>G) | gnomAD v4 |
1 | g.21573839C>A | CA521577941 | ALPL | c.997+40C>A (n.997+40C>A) c.73-1894C>A c.766+40C>A (n.766+40C>A) c.832+40C>A (n.832+40C>A) c.841+40C>A (n.841+40C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573839C= | CA1158018388 | ALPL | c.997+40C= (n.997+40C=) c.73-1894C= c.766+40C= (n.766+40C=) c.832+40C= (n.832+40C=) c.841+40C= (n.841+40C=) | |
1 | g.21573839C>T | CA666708 | ALPL | c.997+40C>T (n.997+40C>T) c.73-1894C>T c.766+40C>T (n.766+40C>T) c.832+40C>T (n.832+40C>T) c.841+40C>T (n.841+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21573841C= | CA1158018389 | ALPL | c.997+42C= (n.997+42C=) c.73-1892C= c.766+42C= (n.766+42C=) c.832+42C= (n.832+42C=) c.841+42C= (n.841+42C=) | |
1 | g.21573841C>G | CA2574253000 | ALPL | c.997+42C>G (n.997+42C>G) c.73-1892C>G c.766+42C>G (n.766+42C>G) c.832+42C>G (n.832+42C>G) c.841+42C>G (n.841+42C>G) | |
1 | g.21573841C>T | CA666709 | ALPL | c.997+42C>T (n.997+42C>T) c.73-1892C>T c.766+42C>T (n.766+42C>T) c.832+42C>T (n.832+42C>T) c.841+42C>T (n.841+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21573842G>A | CA521577942 | ALPL | c.997+43G>A (n.997+43G>A) c.73-1891G>A c.766+43G>A (n.766+43G>A) c.832+43G>A (n.832+43G>A) c.841+43G>A (n.841+43G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21573842G>C | CA2643931040 | ALPL | c.997+43G>C (n.997+43G>C) c.73-1891G>C c.766+43G>C (n.766+43G>C) c.832+43G>C (n.832+43G>C) c.841+43G>C (n.841+43G>C) | gnomAD v4 |
1 | g.21573842G= | CA1158018390 | ALPL | c.997+43G= (n.997+43G=) c.73-1891G= c.766+43G= (n.766+43G=) c.832+43G= (n.832+43G=) c.841+43G= (n.841+43G=) | |
1 | g.21573842G>T | CA19068313 | ALPL | c.997+43G>T (n.997+43G>T) c.73-1891G>T c.766+43G>T (n.766+43G>T) c.832+43G>T (n.832+43G>T) c.841+43G>T (n.841+43G>T) | dbSNP gnomAD v4 |
1 | g.21573843dup | CA2742754150 | ALPL | c.997+44dup (n.997+44dup) c.73-1890dup c.766+44dup (n.766+44dup) c.832+44dup (n.832+44dup) c.841+44dup (n.841+44dup) | |
1 | g.21573844C= | CA1158018391 | ALPL | c.997+45C= (n.997+45C=) c.73-1889C= c.766+45C= (n.766+45C=) c.832+45C= (n.832+45C=) c.841+45C= (n.841+45C=) | |
1 | g.21573844C>T | CA19068321 | ALPL | c.997+45C>T (n.997+45C>T) c.73-1889C>T c.766+45C>T (n.766+45C>T) c.832+45C>T (n.832+45C>T) c.841+45C>T (n.841+45C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21573845C= | CA1158018392 | ALPL | c.997+46C= (n.997+46C=) c.73-1888C= c.766+46C= (n.766+46C=) c.832+46C= (n.832+46C=) c.841+46C= (n.841+46C=) | |
1 | g.21573845C>G | CA1158018393 | ALPL | c.997+46C>G (n.997+46C>G) c.73-1888C>G c.766+46C>G (n.766+46C>G) c.832+46C>G (n.832+46C>G) c.841+46C>G (n.841+46C>G) | dbSNP |
1 | g.21573845C>T | CA2643931041 | ALPL | c.997+46C>T (n.997+46C>T) c.73-1888C>T c.766+46C>T (n.766+46C>T) c.832+46C>T (n.832+46C>T) c.841+46C>T (n.841+46C>T) | gnomAD v4 |