UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108680886C>A | CA517923632 | COL4A5 | c.4017C>A (p.Gly1339=) c.3999C>A (p.Gly1333=) n.511C>A n.420C>A c.4008C>A (p.Gly1336=) c.3693C>A (p.Gly1231=) c.1590C>A (p.Gly530=) c.4032C>A (p.Gly1344=) c.4023C>A (p.Gly1341=) c.4014C>A (p.Gly1338=) c.2352C>A (p.Gly784=) | |
| X | g.108680886C>G | CA517923633 | COL4A5 | c.4017C>G (p.Gly1339=) c.3999C>G (p.Gly1333=) n.511C>G n.420C>G c.4008C>G (p.Gly1336=) c.3693C>G (p.Gly1231=) c.1590C>G (p.Gly530=) c.4032C>G (p.Gly1344=) c.4023C>G (p.Gly1341=) c.4014C>G (p.Gly1338=) c.2352C>G (p.Gly784=) | |
| X | g.108680886C>T | CA517923634 | COL4A5 | c.4017C>T (p.Gly1339=) c.3999C>T (p.Gly1333=) n.511C>T n.420C>T c.4008C>T (p.Gly1336=) c.3693C>T (p.Gly1231=) c.1590C>T (p.Gly530=) c.4032C>T (p.Gly1344=) c.4023C>T (p.Gly1341=) c.4014C>T (p.Gly1338=) c.2352C>T (p.Gly784=) | |
| X | g.108680887A= | CA2450716899 | COL4A5 | c.4018A= (p.Met1340=) c.4000A= (p.Met1334=) n.512A= n.421A= c.4009A= (p.Met1337=) c.3694A= (p.Met1232=) c.1591A= (p.Met531=) c.4033A= (p.Met1345=) c.4024A= (p.Met1342=) c.4015A= (p.Met1339=) c.2353A= (p.Met785=) | |
| X | g.108680887A>C | CA413851092 | COL4A5 | c.4018A>C (p.Met1340Leu) c.4000A>C (p.Met1334Leu) n.512A>C n.421A>C c.4009A>C (p.Met1337Leu) c.3694A>C (p.Met1232Leu) c.1591A>C (p.Met531Leu) c.4033A>C (p.Met1345Leu) c.4024A>C (p.Met1342Leu) c.4015A>C (p.Met1339Leu) c.2353A>C (p.Met785Leu) | |
| X | g.108680887A>G | CA413851094 | COL4A5 | c.4018A>G (p.Met1340Val) c.4000A>G (p.Met1334Val) n.512A>G n.421A>G c.4009A>G (p.Met1337Val) c.3694A>G (p.Met1232Val) c.1591A>G (p.Met531Val) c.4033A>G (p.Met1345Val) c.4024A>G (p.Met1342Val) c.4015A>G (p.Met1339Val) c.2353A>G (p.Met785Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108680887A>T | CA413851093 | COL4A5 | c.4018A>T (p.Met1340Leu) c.4000A>T (p.Met1334Leu) n.512A>T n.421A>T c.4009A>T (p.Met1337Leu) c.3694A>T (p.Met1232Leu) c.1591A>T (p.Met531Leu) c.4033A>T (p.Met1345Leu) c.4024A>T (p.Met1342Leu) c.4015A>T (p.Met1339Leu) c.2353A>T (p.Met785Leu) | |
| X | g.108680888T>A | CA413851095 | COL4A5 | c.4019T>A (p.Met1340Lys) c.4001T>A (p.Met1334Lys) n.513T>A n.422T>A c.4010T>A (p.Met1337Lys) c.3695T>A (p.Met1232Lys) c.1592T>A (p.Met531Lys) c.4034T>A (p.Met1345Lys) c.4025T>A (p.Met1342Lys) c.4016T>A (p.Met1339Lys) c.2354T>A (p.Met785Lys) | |
| X | g.108680888T>C | CA413851096 | COL4A5 | c.4019T>C (p.Met1340Thr) c.4001T>C (p.Met1334Thr) n.513T>C n.422T>C c.4010T>C (p.Met1337Thr) c.3695T>C (p.Met1232Thr) c.1592T>C (p.Met531Thr) c.4034T>C (p.Met1345Thr) c.4025T>C (p.Met1342Thr) c.4016T>C (p.Met1339Thr) c.2354T>C (p.Met785Thr) | gnomAD v4 |
| X | g.108680888T>G | CA413851097 | COL4A5 | c.4019T>G (p.Met1340Arg) c.4001T>G (p.Met1334Arg) n.513T>G n.422T>G c.4010T>G (p.Met1337Arg) c.3695T>G (p.Met1232Arg) c.1592T>G (p.Met531Arg) c.4034T>G (p.Met1345Arg) c.4025T>G (p.Met1342Arg) c.4016T>G (p.Met1339Arg) c.2354T>G (p.Met785Arg) | |
| X | g.108680889G>A | CA413851098 | COL4A5 | c.4020G>A (p.Met1340Ile) c.4002G>A (p.Met1334Ile) n.514G>A n.423G>A c.4011G>A (p.Met1337Ile) c.3696G>A (p.Met1232Ile) c.1593G>A (p.Met531Ile) c.4035G>A (p.Met1345Ile) c.4026G>A (p.Met1342Ile) c.4017G>A (p.Met1339Ile) c.2355G>A (p.Met785Ile) | |
| X | g.108680889G>C | CA413851099 | COL4A5 | c.4020G>C (p.Met1340Ile) c.4002G>C (p.Met1334Ile) n.514G>C n.423G>C c.4011G>C (p.Met1337Ile) c.3696G>C (p.Met1232Ile) c.1593G>C (p.Met531Ile) c.4035G>C (p.Met1345Ile) c.4026G>C (p.Met1342Ile) c.4017G>C (p.Met1339Ile) c.2355G>C (p.Met785Ile) | |
| X | g.108680889G>T | CA413851100 | COL4A5 | c.4020G>T (p.Met1340Ile) c.4002G>T (p.Met1334Ile) n.514G>T n.423G>T c.4011G>T (p.Met1337Ile) c.3696G>T (p.Met1232Ile) c.1593G>T (p.Met531Ile) c.4035G>T (p.Met1345Ile) c.4026G>T (p.Met1342Ile) c.4017G>T (p.Met1339Ile) c.2355G>T (p.Met785Ile) | |
| X | g.108680890A= | CA2450716900 | COL4A5 | c.4021A= (p.Lys1341=) c.4003A= (p.Lys1335=) n.515A= n.424A= c.4012A= (p.Lys1338=) c.3697A= (p.Lys1233=) c.1594A= (p.Lys532=) c.4036A= (p.Lys1346=) c.4027A= (p.Lys1343=) c.4018A= (p.Lys1340=) c.2356A= (p.Lys786=) | |
| X | g.108680890A>C | CA413851101 | COL4A5 | c.4021A>C (p.Lys1341Gln) c.4003A>C (p.Lys1335Gln) n.515A>C n.424A>C c.4012A>C (p.Lys1338Gln) c.3697A>C (p.Lys1233Gln) c.1594A>C (p.Lys532Gln) c.4036A>C (p.Lys1346Gln) c.4027A>C (p.Lys1343Gln) c.4018A>C (p.Lys1340Gln) c.2356A>C (p.Lys786Gln) | |
| X | g.108680890A>G | CA413851102 | COL4A5 | c.4021A>G (p.Lys1341Glu) c.4003A>G (p.Lys1335Glu) n.515A>G n.424A>G c.4012A>G (p.Lys1338Glu) c.3697A>G (p.Lys1233Glu) c.1594A>G (p.Lys532Glu) c.4036A>G (p.Lys1346Glu) c.4027A>G (p.Lys1343Glu) c.4018A>G (p.Lys1340Glu) c.2356A>G (p.Lys786Glu) | COSMIC |
| X | g.108680890A>T | CA413851103 | COL4A5 | c.4021A>T (p.Lys1341Ter) c.4003A>T (p.Lys1335Ter) n.515A>T n.424A>T c.4012A>T (p.Lys1338Ter) c.3697A>T (p.Lys1233Ter) c.1594A>T (p.Lys532Ter) c.4036A>T (p.Lys1346Ter) c.4027A>T (p.Lys1343Ter) c.4018A>T (p.Lys1340Ter) c.2356A>T (p.Lys786Ter) | ClinVar dbSNP |
| X | g.108680891A>C | CA413851104 | COL4A5 | c.4022A>C (p.Lys1341Thr) c.4004A>C (p.Lys1335Thr) n.516A>C n.425A>C c.4013A>C (p.Lys1338Thr) c.3698A>C (p.Lys1233Thr) c.1595A>C (p.Lys532Thr) c.4037A>C (p.Lys1346Thr) c.4028A>C (p.Lys1343Thr) c.4019A>C (p.Lys1340Thr) c.2357A>C (p.Lys786Thr) | |
| X | g.108680891A>G | CA413851105 | COL4A5 | c.4022A>G (p.Lys1341Arg) c.4004A>G (p.Lys1335Arg) n.516A>G n.425A>G c.4013A>G (p.Lys1338Arg) c.3698A>G (p.Lys1233Arg) c.1595A>G (p.Lys532Arg) c.4037A>G (p.Lys1346Arg) c.4028A>G (p.Lys1343Arg) c.4019A>G (p.Lys1340Arg) c.2357A>G (p.Lys786Arg) | |
| X | g.108680891A>T | CA413851106 | COL4A5 | c.4022A>T (p.Lys1341Ile) c.4004A>T (p.Lys1335Ile) n.516A>T n.425A>T c.4013A>T (p.Lys1338Ile) c.3698A>T (p.Lys1233Ile) c.1595A>T (p.Lys532Ile) c.4037A>T (p.Lys1346Ile) c.4028A>T (p.Lys1343Ile) c.4019A>T (p.Lys1340Ile) c.2357A>T (p.Lys786Ile) | |
| X | g.108680892A>C | CA413851107 | COL4A5 | c.4023A>C (p.Lys1341Asn) c.4005A>C (p.Lys1335Asn) n.517A>C n.426A>C c.4014A>C (p.Lys1338Asn) c.3699A>C (p.Lys1233Asn) c.1596A>C (p.Lys532Asn) c.4038A>C (p.Lys1346Asn) c.4029A>C (p.Lys1343Asn) c.4020A>C (p.Lys1340Asn) c.2358A>C (p.Lys786Asn) | |
| X | g.108680892A>G | CA517923635 | COL4A5 | c.4023A>G (p.Lys1341=) c.4005A>G (p.Lys1335=) n.517A>G n.426A>G c.4014A>G (p.Lys1338=) c.3699A>G (p.Lys1233=) c.1596A>G (p.Lys532=) c.4038A>G (p.Lys1346=) c.4029A>G (p.Lys1343=) c.4020A>G (p.Lys1340=) c.2358A>G (p.Lys786=) | COSMIC COSMIC |
| X | g.108680892A>T | CA413851108 | COL4A5 | c.4023A>T (p.Lys1341Asn) c.4005A>T (p.Lys1335Asn) n.517A>T n.426A>T c.4014A>T (p.Lys1338Asn) c.3699A>T (p.Lys1233Asn) c.1596A>T (p.Lys532Asn) c.4038A>T (p.Lys1346Asn) c.4029A>T (p.Lys1343Asn) c.4020A>T (p.Lys1340Asn) c.2358A>T (p.Lys786Asn) | |
| X | g.108680893G>A | CA413851109 | COL4A5 | c.4024G>A (p.Gly1342Arg) c.4006G>A (p.Gly1336Arg) n.518G>A n.427G>A c.4015G>A (p.Gly1339Arg) c.3700G>A (p.Gly1234Arg) c.1597G>A (p.Gly533Arg) c.4039G>A (p.Gly1347Arg) c.4030G>A (p.Gly1344Arg) c.4021G>A (p.Gly1341Arg) c.2359G>A (p.Gly787Arg) | COSMIC COSMIC |
| X | g.108680893G>C | CA413851110 | COL4A5 | c.4024G>C (p.Gly1342Arg) c.4006G>C (p.Gly1336Arg) n.518G>C n.427G>C c.4015G>C (p.Gly1339Arg) c.3700G>C (p.Gly1234Arg) c.1597G>C (p.Gly533Arg) c.4039G>C (p.Gly1347Arg) c.4030G>C (p.Gly1344Arg) c.4021G>C (p.Gly1341Arg) c.2359G>C (p.Gly787Arg) | |
| X | g.108680893G= | CA2450716901 | COL4A5 | c.4024G= (p.Gly1342=) c.4006G= (p.Gly1336=) n.518G= n.427G= c.4015G= (p.Gly1339=) c.3700G= (p.Gly1234=) c.1597G= (p.Gly533=) c.4039G= (p.Gly1347=) c.4030G= (p.Gly1344=) c.4021G= (p.Gly1341=) c.2359G= (p.Gly787=) | |
| X | g.108680893G>T | CA258978 | COL4A5 | c.4024G>T (p.Gly1342Ter) c.4006G>T (p.Gly1336Ter) n.518G>T n.427G>T c.4015G>T (p.Gly1339Ter) c.3700G>T (p.Gly1234Ter) c.1597G>T (p.Gly533Ter) c.4039G>T (p.Gly1347Ter) c.4030G>T (p.Gly1344Ter) c.4021G>T (p.Gly1341Ter) c.2359G>T (p.Gly787Ter) | |
| X | g.108680894G>A | CA413851111 | COL4A5 | c.4025G>A (p.Gly1342Glu) c.4007G>A (p.Gly1336Glu) n.519G>A n.428G>A c.4016G>A (p.Gly1339Glu) c.3701G>A (p.Gly1234Glu) c.1598G>A (p.Gly533Glu) c.4040G>A (p.Gly1347Glu) c.4031G>A (p.Gly1344Glu) c.4022G>A (p.Gly1341Glu) c.2360G>A (p.Gly787Glu) | COSMIC COSMIC |
| X | g.108680894G>C | CA413851112 | COL4A5 | c.4025G>C (p.Gly1342Ala) c.4007G>C (p.Gly1336Ala) n.519G>C n.428G>C c.4016G>C (p.Gly1339Ala) c.3701G>C (p.Gly1234Ala) c.1598G>C (p.Gly533Ala) c.4040G>C (p.Gly1347Ala) c.4031G>C (p.Gly1344Ala) c.4022G>C (p.Gly1341Ala) c.2360G>C (p.Gly787Ala) | |
| X | g.108680894G>T | CA413851113 | COL4A5 | c.4025G>T (p.Gly1342Val) c.4007G>T (p.Gly1336Val) n.519G>T n.428G>T c.4016G>T (p.Gly1339Val) c.3701G>T (p.Gly1234Val) c.1598G>T (p.Gly533Val) c.4040G>T (p.Gly1347Val) c.4031G>T (p.Gly1344Val) c.4022G>T (p.Gly1341Val) c.2360G>T (p.Gly787Val) | |
| X | g.108680895A>C | CA517923636 | COL4A5 | c.4026A>C (p.Gly1342=) c.4008A>C (p.Gly1336=) n.520A>C n.429A>C c.4017A>C (p.Gly1339=) c.3702A>C (p.Gly1234=) c.1599A>C (p.Gly533=) c.4041A>C (p.Gly1347=) c.4032A>C (p.Gly1344=) c.4023A>C (p.Gly1341=) c.2361A>C (p.Gly787=) | |
| X | g.108680895A>G | CA517923637 | COL4A5 | c.4026A>G (p.Gly1342=) c.4008A>G (p.Gly1336=) n.520A>G n.429A>G c.4017A>G (p.Gly1339=) c.3702A>G (p.Gly1234=) c.1599A>G (p.Gly533=) c.4041A>G (p.Gly1347=) c.4032A>G (p.Gly1344=) c.4023A>G (p.Gly1341=) c.2361A>G (p.Gly787=) | |
| X | g.108680895A>T | CA517923638 | COL4A5 | c.4026A>T (p.Gly1342=) c.4008A>T (p.Gly1336=) n.520A>T n.429A>T c.4017A>T (p.Gly1339=) c.3702A>T (p.Gly1234=) c.1599A>T (p.Gly533=) c.4041A>T (p.Gly1347=) c.4032A>T (p.Gly1344=) c.4023A>T (p.Gly1341=) c.2361A>T (p.Gly787=) | |
| X | g.108680896C>A | CA413851114 | COL4A5 | c.4027C>A (p.Pro1343Thr) c.4009C>A (p.Pro1337Thr) n.521C>A n.430C>A c.4018C>A (p.Pro1340Thr) c.3703C>A (p.Pro1235Thr) c.1600C>A (p.Pro534Thr) c.4042C>A (p.Pro1348Thr) c.4033C>A (p.Pro1345Thr) c.4024C>A (p.Pro1342Thr) c.2362C>A (p.Pro788Thr) | |
| X | g.108680896C>G | CA413851115 | COL4A5 | c.4027C>G (p.Pro1343Ala) c.4009C>G (p.Pro1337Ala) n.521C>G n.430C>G c.4018C>G (p.Pro1340Ala) c.3703C>G (p.Pro1235Ala) c.1600C>G (p.Pro534Ala) c.4042C>G (p.Pro1348Ala) c.4033C>G (p.Pro1345Ala) c.4024C>G (p.Pro1342Ala) c.2362C>G (p.Pro788Ala) | |
| X | g.108680896C>T | CA413851116 | COL4A5 | c.4027C>T (p.Pro1343Ser) c.4009C>T (p.Pro1337Ser) n.521C>T n.430C>T c.4018C>T (p.Pro1340Ser) c.3703C>T (p.Pro1235Ser) c.1600C>T (p.Pro534Ser) c.4042C>T (p.Pro1348Ser) c.4033C>T (p.Pro1345Ser) c.4024C>T (p.Pro1342Ser) c.2362C>T (p.Pro788Ser) | gnomAD v4 |
| X | g.108680897C>A | CA413851117 | COL4A5 | c.4028C>A (p.Pro1343His) c.4010C>A (p.Pro1337His) n.522C>A n.431C>A c.4019C>A (p.Pro1340His) c.3704C>A (p.Pro1235His) c.1601C>A (p.Pro534His) c.4043C>A (p.Pro1348His) c.4034C>A (p.Pro1345His) c.4025C>A (p.Pro1342His) c.2363C>A (p.Pro788His) | |
| X | g.108680897C= | CA2450716902 | COL4A5 | c.4028C= (p.Pro1343=) c.4010C= (p.Pro1337=) n.522C= n.431C= c.4019C= (p.Pro1340=) c.3704C= (p.Pro1235=) c.1601C= (p.Pro534=) c.4043C= (p.Pro1348=) c.4034C= (p.Pro1345=) c.4025C= (p.Pro1342=) c.2363C= (p.Pro788=) | |
| X | g.108680897C>G | CA413851118 | COL4A5 | c.4028C>G (p.Pro1343Arg) c.4010C>G (p.Pro1337Arg) n.522C>G n.431C>G c.4019C>G (p.Pro1340Arg) c.3704C>G (p.Pro1235Arg) c.1601C>G (p.Pro534Arg) c.4043C>G (p.Pro1348Arg) c.4034C>G (p.Pro1345Arg) c.4025C>G (p.Pro1342Arg) c.2363C>G (p.Pro788Arg) | |
| X | g.108680897C>T | CA10489277 | COL4A5 | c.4028C>T (p.Pro1343Leu) c.4010C>T (p.Pro1337Leu) n.522C>T n.431C>T c.4019C>T (p.Pro1340Leu) c.3704C>T (p.Pro1235Leu) c.1601C>T (p.Pro534Leu) c.4043C>T (p.Pro1348Leu) c.4034C>T (p.Pro1345Leu) c.4025C>T (p.Pro1342Leu) c.2363C>T (p.Pro788Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108680898C>A | CA517923639 | COL4A5 | c.4029C>A (p.Pro1343=) c.4011C>A (p.Pro1337=) n.523C>A n.432C>A c.4020C>A (p.Pro1340=) c.3705C>A (p.Pro1235=) c.1602C>A (p.Pro534=) c.4044C>A (p.Pro1348=) c.4035C>A (p.Pro1345=) c.4026C>A (p.Pro1342=) c.2364C>A (p.Pro788=) | |
| X | g.108680898C>G | CA517923640 | COL4A5 | c.4029C>G (p.Pro1343=) c.4011C>G (p.Pro1337=) n.523C>G n.432C>G c.4020C>G (p.Pro1340=) c.3705C>G (p.Pro1235=) c.1602C>G (p.Pro534=) c.4044C>G (p.Pro1348=) c.4035C>G (p.Pro1345=) c.4026C>G (p.Pro1342=) c.2364C>G (p.Pro788=) | |
| X | g.108680898C>T | CA517923641 | COL4A5 | c.4029C>T (p.Pro1343=) c.4011C>T (p.Pro1337=) n.523C>T n.432C>T c.4020C>T (p.Pro1340=) c.3705C>T (p.Pro1235=) c.1602C>T (p.Pro534=) c.4044C>T (p.Pro1348=) c.4035C>T (p.Pro1345=) c.4026C>T (p.Pro1342=) c.2364C>T (p.Pro788=) | |
| X | g.108680899A>C | CA413851121 | COL4A5 | c.4030A>C (p.Ser1344Arg) c.4012A>C (p.Ser1338Arg) n.524A>C n.433A>C c.4021A>C (p.Ser1341Arg) c.3706A>C (p.Ser1236Arg) c.1603A>C (p.Ser535Arg) c.4045A>C (p.Ser1349Arg) c.4036A>C (p.Ser1346Arg) c.4027A>C (p.Ser1343Arg) c.2365A>C (p.Ser789Arg) | |
| X | g.108680899A>G | CA413851119 | COL4A5 | c.4030A>G (p.Ser1344Gly) c.4012A>G (p.Ser1338Gly) n.524A>G n.433A>G c.4021A>G (p.Ser1341Gly) c.3706A>G (p.Ser1236Gly) c.1603A>G (p.Ser535Gly) c.4045A>G (p.Ser1349Gly) c.4036A>G (p.Ser1346Gly) c.4027A>G (p.Ser1343Gly) c.2365A>G (p.Ser789Gly) | |
| X | g.108680899A>T | CA413851120 | COL4A5 | c.4030A>T (p.Ser1344Cys) c.4012A>T (p.Ser1338Cys) n.524A>T n.433A>T c.4021A>T (p.Ser1341Cys) c.3706A>T (p.Ser1236Cys) c.1603A>T (p.Ser535Cys) c.4045A>T (p.Ser1349Cys) c.4036A>T (p.Ser1346Cys) c.4027A>T (p.Ser1343Cys) c.2365A>T (p.Ser789Cys) | |
| X | g.108680900G>A | CA413851122 | COL4A5 | c.4031G>A (p.Ser1344Asn) c.4013G>A (p.Ser1338Asn) n.525G>A n.434G>A c.4022G>A (p.Ser1341Asn) c.3707G>A (p.Ser1236Asn) c.1604G>A (p.Ser535Asn) c.4046G>A (p.Ser1349Asn) c.4037G>A (p.Ser1346Asn) c.4028G>A (p.Ser1343Asn) c.2366G>A (p.Ser789Asn) | |
| X | g.108680900G>C | CA413851123 | COL4A5 | c.4031G>C (p.Ser1344Thr) c.4013G>C (p.Ser1338Thr) n.525G>C n.434G>C c.4022G>C (p.Ser1341Thr) c.3707G>C (p.Ser1236Thr) c.1604G>C (p.Ser535Thr) c.4046G>C (p.Ser1349Thr) c.4037G>C (p.Ser1346Thr) c.4028G>C (p.Ser1343Thr) c.2366G>C (p.Ser789Thr) | |
| X | g.108680900G>T | CA413851124 | COL4A5 | c.4031G>T (p.Ser1344Ile) c.4013G>T (p.Ser1338Ile) n.525G>T n.434G>T c.4022G>T (p.Ser1341Ile) c.3707G>T (p.Ser1236Ile) c.1604G>T (p.Ser535Ile) c.4046G>T (p.Ser1349Ile) c.4037G>T (p.Ser1346Ile) c.4028G>T (p.Ser1343Ile) c.2366G>T (p.Ser789Ile) | |
| X | g.108680901T>A | CA413851125 | COL4A5 | c.4032T>A (p.Ser1344Arg) c.4014T>A (p.Ser1338Arg) n.526T>A n.435T>A c.4023T>A (p.Ser1341Arg) c.3708T>A (p.Ser1236Arg) c.1605T>A (p.Ser535Arg) c.4047T>A (p.Ser1349Arg) c.4038T>A (p.Ser1346Arg) c.4029T>A (p.Ser1343Arg) c.2367T>A (p.Ser789Arg) |