| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573518_21573686del | CA2580061452 | ALPL | c.863-147_884del c.73-2215_73-2047del c.632-147_653del c.698-147_719del c.707-147_728del | ClinVar |
| 1 | g.21573668_21573688del | CA2643930962 | ALPL | c.866_886del (p.Leu289_Met295del) c.73-2065_73-2045del c.635_655del (p.Leu212_Met218del) c.701_721del (p.Leu234_Met240del) c.710_730del (p.Leu237_Met243del) | gnomAD v4 |
| 1 | g.21573677_21573683delinsT | CA2586964054 | ALPL | c.875_881delinsT (p.Pro292_Asp294delinsLeu) c.73-2056_73-2050delinsT c.644_650delinsT (p.Pro215_Asp217delinsLeu) c.710_716delinsT (p.Pro237_Asp239delinsLeu) c.719_725delinsT (p.Pro240_Asp242delinsLeu) | |
| 1 | g.21573677_21573683delinsCAGGGGA | CA1158018322 | ALPL | c.875_881delinsCAGGGGA (p.Pro292=) c.73-2056_73-2050delinsCAGGGGA c.644_650delinsCAGGGGA (p.Pro215=) c.710_716delinsCAGGGGA (p.Pro237=) c.719_725delinsCAGGGGA (p.Pro240=) | |
| 1 | g.21573677_21573684delinsCAGGGGAC | CA1158018323 | ALPL | c.875_882delinsCAGGGGAC (p.Pro292=) c.73-2056_73-2049delinsCAGGGGAC c.644_651delinsCAGGGGAC (p.Pro215=) c.710_717delinsCAGGGGAC (p.Pro237=) c.719_726delinsCAGGGGAC (p.Pro240=) | |
| 1 | g.21573679_21573685del | CA2586964055 | ALPL | c.877_883del (p.Gly293CysfsTer5) c.73-2054_73-2048del c.646_652del (p.Gly216CysfsTer5) c.712_718del (p.Gly238CysfsTer5) c.721_727del (p.Gly241CysfsTer5) | |
| 1 | g.21573678_21573683del | CA416532345 | ALPL | c.876_881del (p.Gly293_Asp294del) c.73-2055_73-2050del c.645_650del (p.Gly216_Asp217del) c.711_716del (p.Gly238_Asp239del) c.720_725del (p.Gly241_Asp242del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573678_21573684delinsT | CA658656891 | ALPL | c.876_882delinsT (p.Gly293_Asp294del) c.73-2055_73-2049delinsT c.645_651delinsT (p.Gly216_Asp217del) c.711_717delinsT (p.Gly238_Asp239del) c.720_726delinsT (p.Gly241_Asp242del) | ClinVar dbSNP |
| 1 | g.21573679_21573684del | CA338880190 | ALPL | c.877_882del (p.Gly293_Asp294del) c.73-2054_73-2049del c.646_651del (p.Gly216_Asp217del) c.712_717del (p.Gly238_Asp239del) c.721_726del (p.Gly241_Asp242del) | ClinVar |
| 1 | g.21573683A= | CA1141580643 | ALPL | c.881A= (p.Asp294=) c.73-2050A= c.650A= (p.Asp217=) c.716A= (p.Asp239=) c.725A= (p.Asp242=) | |
| 1 | g.21573683A>C | CA256921 | ALPL | c.881A>C (p.Asp294Ala) c.73-2050A>C c.650A>C (p.Asp217Ala) c.716A>C (p.Asp239Ala) c.725A>C (p.Asp242Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573683A>G | CA338880198 | ALPL | c.881A>G (p.Asp294Gly) c.73-2050A>G c.650A>G (p.Asp217Gly) c.716A>G (p.Asp239Gly) c.725A>G (p.Asp242Gly) | ClinVar |
| 1 | g.21573683A>T | CA338880199 | ALPL | c.881A>T (p.Asp294Val) c.73-2050A>T c.650A>T (p.Asp217Val) c.716A>T (p.Asp239Val) c.725A>T (p.Asp242Val) | |
| 1 | g.21573684C>A | CA338880201 | ALPL | c.882C>A (p.Asp294Glu) c.73-2049C>A c.651C>A (p.Asp217Glu) c.717C>A (p.Asp239Glu) c.726C>A (p.Asp242Glu) | dbSNP gnomAD v4 |
| 1 | g.21573684C= | CA1158018326 | ALPL | c.882C= (p.Asp294=) c.73-2049C= c.651C= (p.Asp217=) c.717C= (p.Asp239=) c.726C= (p.Asp242=) | |
| 1 | g.21573684C>G | CA338880200 | ALPL | c.882C>G (p.Asp294Glu) c.73-2049C>G c.651C>G (p.Asp217Glu) c.717C>G (p.Asp239Glu) c.726C>G (p.Asp242Glu) | |
| 1 | g.21573684C>T | CA416532406 | ALPL | c.882C>T (p.Asp294=) c.73-2049C>T c.651C>T (p.Asp217=) c.717C>T (p.Asp239=) c.726C>T (p.Asp242=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573685A= | CA1158018327 | ALPL | c.883A= (p.Met295=) c.73-2048A= c.652A= (p.Met218=) c.718A= (p.Met240=) c.727A= (p.Met243=) | |
| 1 | g.21573685A>C | CA338880202 | ALPL | c.883A>C (p.Met295Leu) c.73-2048A>C c.652A>C (p.Met218Leu) c.718A>C (p.Met240Leu) c.727A>C (p.Met243Leu) | |
| 1 | g.21573685A>G | CA338880203 | ALPL | c.883A>G (p.Met295Val) c.73-2048A>G c.652A>G (p.Met218Val) c.718A>G (p.Met240Val) c.727A>G (p.Met243Val) | ClinVar gnomAD v4 |
| 1 | g.21573685A>T | CA338880204 | ALPL | c.883A>T (p.Met295Leu) c.73-2048A>T c.652A>T (p.Met218Leu) c.718A>T (p.Met240Leu) c.727A>T (p.Met243Leu) | dbSNP |
| 1 | g.21573686T>A | CA338880205 | ALPL | c.884T>A (p.Met295Lys) c.73-2047T>A c.653T>A (p.Met218Lys) c.719T>A (p.Met240Lys) c.728T>A (p.Met243Lys) | |
| 1 | g.21573686T>C | CA338880206 | ALPL | c.884T>C (p.Met295Thr) c.73-2047T>C c.653T>C (p.Met218Thr) c.719T>C (p.Met240Thr) c.728T>C (p.Met243Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573686T>G | CA338880207 | ALPL | c.884T>G (p.Met295Arg) c.73-2047T>G c.653T>G (p.Met218Arg) c.719T>G (p.Met240Arg) c.728T>G (p.Met243Arg) | |
| 1 | g.21573686T= | CA1158018328 | ALPL | c.884T= (p.Met295=) c.73-2047T= c.653T= (p.Met218=) c.719T= (p.Met240=) c.728T= (p.Met243=) | |
| 1 | g.21573687G>A | CA338880208 | ALPL | c.885G>A (p.Met295Ile) c.73-2046G>A c.654G>A (p.Met218Ile) c.720G>A (p.Met240Ile) c.729G>A (p.Met243Ile) | |
| 1 | g.21573687G>C | CA338880209 | ALPL | c.885G>C (p.Met295Ile) c.73-2046G>C c.654G>C (p.Met218Ile) c.720G>C (p.Met240Ile) c.729G>C (p.Met243Ile) | |
| 1 | g.21573687G>T | CA338880210 | ALPL | c.885G>T (p.Met295Ile) c.73-2046G>T c.654G>T (p.Met218Ile) c.720G>T (p.Met240Ile) c.729G>T (p.Met243Ile) | |
| 1 | g.21573688C>A | CA338880211 | ALPL | c.886C>A (p.Gln296Lys) c.73-2045C>A c.655C>A (p.Gln219Lys) c.721C>A (p.Gln241Lys) c.730C>A (p.Gln244Lys) | gnomAD v4 |
| 1 | g.21573688C>G | CA338880212 | ALPL | c.886C>G (p.Gln296Glu) c.73-2045C>G c.655C>G (p.Gln219Glu) c.721C>G (p.Gln241Glu) c.730C>G (p.Gln244Glu) | |
| 1 | g.21573688C>T | CA338880213 | ALPL | c.886C>T (p.Gln296Ter) c.73-2045C>T c.655C>T (p.Gln219Ter) c.721C>T (p.Gln241Ter) c.730C>T (p.Gln244Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21573689A= | CA1148476431 | ALPL | c.887A= (p.Gln296=) c.73-2044A= c.656A= (p.Gln219=) c.722A= (p.Gln241=) c.731A= (p.Gln244=) | |
| 1 | g.21573689A>C | CA338880215 | ALPL | c.887A>C (p.Gln296Pro) c.73-2044A>C c.656A>C (p.Gln219Pro) c.722A>C (p.Gln241Pro) c.731A>C (p.Gln244Pro) | ClinVar |
| 1 | g.21573689A>G | CA338880214 | ALPL | c.887A>G (p.Gln296Arg) c.73-2044A>G c.656A>G (p.Gln219Arg) c.722A>G (p.Gln241Arg) c.731A>G (p.Gln244Arg) | |
| 1 | g.21573689A>T | CA666671 | ALPL | c.887A>T (p.Gln296Leu) c.73-2044A>T c.656A>T (p.Gln219Leu) c.722A>T (p.Gln241Leu) c.731A>T (p.Gln244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573690G>A | CA416532450 | ALPL | c.888G>A (p.Gln296=) c.73-2043G>A c.657G>A (p.Gln219=) c.723G>A (p.Gln241=) c.732G>A (p.Gln244=) | |
| 1 | g.21573690G>C | CA338880216 | ALPL | c.888G>C (p.Gln296His) c.73-2043G>C c.657G>C (p.Gln219His) c.723G>C (p.Gln241His) c.732G>C (p.Gln244His) | |
| 1 | g.21573690G>T | CA338880217 | ALPL | c.888G>T (p.Gln296His) c.73-2043G>T c.657G>T (p.Gln219His) c.723G>T (p.Gln241His) c.732G>T (p.Gln244His) | dbSNP |
| 1 | g.21573691T>A | CA338880218 | ALPL | c.889T>A (p.Tyr297Asn) c.73-2042T>A c.658T>A (p.Tyr220Asn) c.724T>A (p.Tyr242Asn) c.733T>A (p.Tyr245Asn) | ClinVar dbSNP |
| 1 | g.21573691T>C | CA338880219 | ALPL | c.889T>C (p.Tyr297His) c.73-2042T>C c.658T>C (p.Tyr220His) c.724T>C (p.Tyr242His) c.733T>C (p.Tyr245His) | |
| 1 | g.21573691T>G | CA338880220 | ALPL | c.889T>G (p.Tyr297Asp) c.73-2042T>G c.658T>G (p.Tyr220Asp) c.724T>G (p.Tyr242Asp) c.733T>G (p.Tyr245Asp) | |
| 1 | g.21573692A= | CA1158018329 | ALPL | c.890A= (p.Tyr297=) c.73-2041A= c.659A= (p.Tyr220=) c.725A= (p.Tyr242=) c.734A= (p.Tyr245=) | |
| 1 | g.21573692A>C | CA338880221 | ALPL | c.890A>C (p.Tyr297Ser) c.73-2041A>C c.659A>C (p.Tyr220Ser) c.725A>C (p.Tyr242Ser) c.734A>C (p.Tyr245Ser) | |
| 1 | g.21573692A>G | CA338880222 | ALPL | c.890A>G (p.Tyr297Cys) c.73-2041A>G c.659A>G (p.Tyr220Cys) c.725A>G (p.Tyr242Cys) c.734A>G (p.Tyr245Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573692A>T | CA338880223 | ALPL | c.890A>T (p.Tyr297Phe) c.73-2041A>T c.659A>T (p.Tyr220Phe) c.725A>T (p.Tyr242Phe) c.734A>T (p.Tyr245Phe) | gnomAD v4 |
| 1 | g.21573693C>A | CA274381 | ALPL | c.891C>A (p.Tyr297Ter) c.73-2040C>A c.660C>A (p.Tyr220Ter) c.726C>A (p.Tyr242Ter) c.735C>A (p.Tyr245Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573693C= | CA1158018330 | ALPL | c.891C= (p.Tyr297=) c.73-2040C= c.660C= (p.Tyr220=) c.726C= (p.Tyr242=) c.735C= (p.Tyr245=) | |
| 1 | g.21573693C>G | CA338880224 | ALPL | c.891C>G (p.Tyr297Ter) c.73-2040C>G c.660C>G (p.Tyr220Ter) c.726C>G (p.Tyr242Ter) c.735C>G (p.Tyr245Ter) | ClinVar |
| 1 | g.21573693C>T | CA416532474 | ALPL | c.891C>T (p.Tyr297=) c.73-2040C>T c.660C>T (p.Tyr220=) c.726C>T (p.Tyr242=) c.735C>T (p.Tyr245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573694G>A | CA256926 | ALPL | c.892G>A (p.Glu298Lys) c.73-2039G>A c.661G>A (p.Glu221Lys) c.727G>A (p.Glu243Lys) c.736G>A (p.Glu246Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |