WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.153636358_153636372del | CA2672415880 | TMEM131L | c.4615_4629del (p.Trp1539_Ser1543del) c.3946_3960del (p.Trp1316_Ser1320del) c.4612_4626del (p.Trp1538_Ser1542del) c.2737_2751del (p.Trp913_Ser917del) c.4702_4716del (p.Trp1568_Ser1572del) c.4699_4713del (p.Trp1567_Ser1571del) c.4672_4686del (p.Trp1558_Ser1562del) c.4450_4464del (p.Trp1484_Ser1488del) c.4609_4623del (p.Trp1537_Ser1541del) c.4669_4683del (p.Trp1557_Ser1561del) | gnomAD v4 |
| 4 | g.153636364C>A | CA358506098 | TMEM131L | c.4621C>A (p.Pro1541Thr) c.3952C>A (p.Pro1318Thr) c.4618C>A (p.Pro1540Thr) c.2743C>A (p.Pro915Thr) c.4708C>A (p.Pro1570Thr) c.4705C>A (p.Pro1569Thr) c.4678C>A (p.Pro1560Thr) c.4456C>A (p.Pro1486Thr) c.4615C>A (p.Pro1539Thr) c.4675C>A (p.Pro1559Thr) | |
| 4 | g.153636364C>G | CA358506101 | TMEM131L | c.4621C>G (p.Pro1541Ala) c.3952C>G (p.Pro1318Ala) c.4618C>G (p.Pro1540Ala) c.2743C>G (p.Pro915Ala) c.4708C>G (p.Pro1570Ala) c.4705C>G (p.Pro1569Ala) c.4678C>G (p.Pro1560Ala) c.4456C>G (p.Pro1486Ala) c.4615C>G (p.Pro1539Ala) c.4675C>G (p.Pro1559Ala) | |
| 4 | g.153636364C>T | CA358506099 | TMEM131L | c.4621C>T (p.Pro1541Ser) c.3952C>T (p.Pro1318Ser) c.4618C>T (p.Pro1540Ser) c.2743C>T (p.Pro915Ser) c.4708C>T (p.Pro1570Ser) c.4705C>T (p.Pro1569Ser) c.4678C>T (p.Pro1560Ser) c.4456C>T (p.Pro1486Ser) c.4615C>T (p.Pro1539Ser) c.4675C>T (p.Pro1559Ser) | |
| 4 | g.153636365C>A | CA358506104 | TMEM131L | c.4622C>A (p.Pro1541Gln) c.3953C>A (p.Pro1318Gln) c.4619C>A (p.Pro1540Gln) c.2744C>A (p.Pro915Gln) c.4709C>A (p.Pro1570Gln) c.4706C>A (p.Pro1569Gln) c.4679C>A (p.Pro1560Gln) c.4457C>A (p.Pro1486Gln) c.4616C>A (p.Pro1539Gln) c.4676C>A (p.Pro1559Gln) | |
| 4 | g.153636365C>G | CA358506105 | TMEM131L | c.4622C>G (p.Pro1541Arg) c.3953C>G (p.Pro1318Arg) c.4619C>G (p.Pro1540Arg) c.2744C>G (p.Pro915Arg) c.4709C>G (p.Pro1570Arg) c.4706C>G (p.Pro1569Arg) c.4679C>G (p.Pro1560Arg) c.4457C>G (p.Pro1486Arg) c.4616C>G (p.Pro1539Arg) c.4676C>G (p.Pro1559Arg) | |
| 4 | g.153636365C>T | CA358506107 | TMEM131L | c.4622C>T (p.Pro1541Leu) c.3953C>T (p.Pro1318Leu) c.4619C>T (p.Pro1540Leu) c.2744C>T (p.Pro915Leu) c.4709C>T (p.Pro1570Leu) c.4706C>T (p.Pro1569Leu) c.4679C>T (p.Pro1560Leu) c.4457C>T (p.Pro1486Leu) c.4616C>T (p.Pro1539Leu) c.4676C>T (p.Pro1559Leu) | gnomAD v4 |
| 4 | g.153636366G>A | CA3110583 | TMEM131L | c.4623G>A (p.Pro1541=) c.3954G>A (p.Pro1318=) c.4620G>A (p.Pro1540=) c.2745G>A (p.Pro915=) c.4710G>A (p.Pro1570=) c.4707G>A (p.Pro1569=) c.4680G>A (p.Pro1560=) c.4458G>A (p.Pro1486=) c.4617G>A (p.Pro1539=) c.4677G>A (p.Pro1559=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.153636366G>C | CA441799805 | TMEM131L | c.4623G>C (p.Pro1541=) c.3954G>C (p.Pro1318=) c.4620G>C (p.Pro1540=) c.2745G>C (p.Pro915=) c.4710G>C (p.Pro1570=) c.4707G>C (p.Pro1569=) c.4680G>C (p.Pro1560=) c.4458G>C (p.Pro1486=) c.4617G>C (p.Pro1539=) c.4677G>C (p.Pro1559=) | |
| 4 | g.153636366G= | CA1504512154 | TMEM131L | c.4623G= (p.Pro1541=) c.3954G= (p.Pro1318=) c.4620G= (p.Pro1540=) c.2745G= (p.Pro915=) c.4710G= (p.Pro1570=) c.4707G= (p.Pro1569=) c.4680G= (p.Pro1560=) c.4458G= (p.Pro1486=) c.4617G= (p.Pro1539=) c.4677G= (p.Pro1559=) | |
| 4 | g.153636366G>T | CA3110584 | TMEM131L | c.4623G>T (p.Pro1541=) c.3954G>T (p.Pro1318=) c.4620G>T (p.Pro1540=) c.2745G>T (p.Pro915=) c.4710G>T (p.Pro1570=) c.4707G>T (p.Pro1569=) c.4680G>T (p.Pro1560=) c.4458G>T (p.Pro1486=) c.4617G>T (p.Pro1539=) c.4677G>T (p.Pro1559=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.153636367C>A | CA358506109 | TMEM131L | c.4624C>A (p.Gln1542Lys) c.3955C>A (p.Gln1319Lys) c.4621C>A (p.Gln1541Lys) c.2746C>A (p.Gln916Lys) c.4711C>A (p.Gln1571Lys) c.4708C>A (p.Gln1570Lys) c.4681C>A (p.Gln1561Lys) c.4459C>A (p.Gln1487Lys) c.4618C>A (p.Gln1540Lys) c.4678C>A (p.Gln1560Lys) | |
| 4 | g.153636367C>G | CA358506110 | TMEM131L | c.4624C>G (p.Gln1542Glu) c.3955C>G (p.Gln1319Glu) c.4621C>G (p.Gln1541Glu) c.2746C>G (p.Gln916Glu) c.4711C>G (p.Gln1571Glu) c.4708C>G (p.Gln1570Glu) c.4681C>G (p.Gln1561Glu) c.4459C>G (p.Gln1487Glu) c.4618C>G (p.Gln1540Glu) c.4678C>G (p.Gln1560Glu) | |
| 4 | g.153636367C>T | CA358506112 | TMEM131L | c.4624C>T (p.Gln1542Ter) c.3955C>T (p.Gln1319Ter) c.4621C>T (p.Gln1541Ter) c.2746C>T (p.Gln916Ter) c.4711C>T (p.Gln1571Ter) c.4708C>T (p.Gln1570Ter) c.4681C>T (p.Gln1561Ter) c.4459C>T (p.Gln1487Ter) c.4618C>T (p.Gln1540Ter) c.4678C>T (p.Gln1560Ter) | |
| 4 | g.153636368A>C | CA358506114 | TMEM131L | c.4625A>C (p.Gln1542Pro) c.3956A>C (p.Gln1319Pro) c.4622A>C (p.Gln1541Pro) c.2747A>C (p.Gln916Pro) c.4712A>C (p.Gln1571Pro) c.4709A>C (p.Gln1570Pro) c.4682A>C (p.Gln1561Pro) c.4460A>C (p.Gln1487Pro) c.4619A>C (p.Gln1540Pro) c.4679A>C (p.Gln1560Pro) | |
| 4 | g.153636368A>G | CA358506115 | TMEM131L | c.4625A>G (p.Gln1542Arg) c.3956A>G (p.Gln1319Arg) c.4622A>G (p.Gln1541Arg) c.2747A>G (p.Gln916Arg) c.4712A>G (p.Gln1571Arg) c.4709A>G (p.Gln1570Arg) c.4682A>G (p.Gln1561Arg) c.4460A>G (p.Gln1487Arg) c.4619A>G (p.Gln1540Arg) c.4679A>G (p.Gln1560Arg) | gnomAD v4 |
| 4 | g.153636368A>T | CA358506118 | TMEM131L | c.4625A>T (p.Gln1542Leu) c.3956A>T (p.Gln1319Leu) c.4622A>T (p.Gln1541Leu) c.2747A>T (p.Gln916Leu) c.4712A>T (p.Gln1571Leu) c.4709A>T (p.Gln1570Leu) c.4682A>T (p.Gln1561Leu) c.4460A>T (p.Gln1487Leu) c.4619A>T (p.Gln1540Leu) c.4679A>T (p.Gln1560Leu) | |
| 4 | g.153636369A>C | CA358506120 | TMEM131L | c.4626A>C (p.Gln1542His) c.3957A>C (p.Gln1319His) c.4623A>C (p.Gln1541His) c.2748A>C (p.Gln916His) c.4713A>C (p.Gln1571His) c.4710A>C (p.Gln1570His) c.4683A>C (p.Gln1561His) c.4461A>C (p.Gln1487His) c.4620A>C (p.Gln1540His) c.4680A>C (p.Gln1560His) | |
| 4 | g.153636369A>G | CA441799806 | TMEM131L | c.4626A>G (p.Gln1542=) c.3957A>G (p.Gln1319=) c.4623A>G (p.Gln1541=) c.2748A>G (p.Gln916=) c.4713A>G (p.Gln1571=) c.4710A>G (p.Gln1570=) c.4683A>G (p.Gln1561=) c.4461A>G (p.Gln1487=) c.4620A>G (p.Gln1540=) c.4680A>G (p.Gln1560=) | |
| 4 | g.153636369A>T | CA358506121 | TMEM131L | c.4626A>T (p.Gln1542His) c.3957A>T (p.Gln1319His) c.4623A>T (p.Gln1541His) c.2748A>T (p.Gln916His) c.4713A>T (p.Gln1571His) c.4710A>T (p.Gln1570His) c.4683A>T (p.Gln1561His) c.4461A>T (p.Gln1487His) c.4620A>T (p.Gln1540His) c.4680A>T (p.Gln1560His) | |
| 4 | g.153636370A>C | CA358506127 | TMEM131L | c.4627A>C (p.Ser1543Arg) c.3958A>C (p.Ser1320Arg) c.4624A>C (p.Ser1542Arg) c.2749A>C (p.Ser917Arg) c.4714A>C (p.Ser1572Arg) c.4711A>C (p.Ser1571Arg) c.4684A>C (p.Ser1562Arg) c.4462A>C (p.Ser1488Arg) c.4621A>C (p.Ser1541Arg) c.4681A>C (p.Ser1561Arg) | |
| 4 | g.153636370A>G | CA358506125 | TMEM131L | c.4627A>G (p.Ser1543Gly) c.3958A>G (p.Ser1320Gly) c.4624A>G (p.Ser1542Gly) c.2749A>G (p.Ser917Gly) c.4714A>G (p.Ser1572Gly) c.4711A>G (p.Ser1571Gly) c.4684A>G (p.Ser1562Gly) c.4462A>G (p.Ser1488Gly) c.4621A>G (p.Ser1541Gly) c.4681A>G (p.Ser1561Gly) | |
| 4 | g.153636370A>T | CA358506124 | TMEM131L | c.4627A>T (p.Ser1543Cys) c.3958A>T (p.Ser1320Cys) c.4624A>T (p.Ser1542Cys) c.2749A>T (p.Ser917Cys) c.4714A>T (p.Ser1572Cys) c.4711A>T (p.Ser1571Cys) c.4684A>T (p.Ser1562Cys) c.4462A>T (p.Ser1488Cys) c.4621A>T (p.Ser1541Cys) c.4681A>T (p.Ser1561Cys) | |
| 4 | g.153636371G>A | CA3110585 | TMEM131L | c.4628G>A (p.Ser1543Asn) c.3959G>A (p.Ser1320Asn) c.4625G>A (p.Ser1542Asn) c.2750G>A (p.Ser917Asn) c.4715G>A (p.Ser1572Asn) c.4712G>A (p.Ser1571Asn) c.4685G>A (p.Ser1562Asn) c.4463G>A (p.Ser1488Asn) c.4622G>A (p.Ser1541Asn) c.4682G>A (p.Ser1561Asn) | dbSNP ExAC gnomAD v4 |
| 4 | g.153636371G>C | CA358506130 | TMEM131L | c.4628G>C (p.Ser1543Thr) c.3959G>C (p.Ser1320Thr) c.4625G>C (p.Ser1542Thr) c.2750G>C (p.Ser917Thr) c.4715G>C (p.Ser1572Thr) c.4712G>C (p.Ser1571Thr) c.4685G>C (p.Ser1562Thr) c.4463G>C (p.Ser1488Thr) c.4622G>C (p.Ser1541Thr) c.4682G>C (p.Ser1561Thr) | |
| 4 | g.153636371G= | CA1504512155 | TMEM131L | c.4628G= (p.Ser1543=) c.3959G= (p.Ser1320=) c.4625G= (p.Ser1542=) c.2750G= (p.Ser917=) c.4715G= (p.Ser1572=) c.4712G= (p.Ser1571=) c.4685G= (p.Ser1562=) c.4463G= (p.Ser1488=) c.4622G= (p.Ser1541=) c.4682G= (p.Ser1561=) | |
| 4 | g.153636371G>T | CA358506132 | TMEM131L | c.4628G>T (p.Ser1543Ile) c.3959G>T (p.Ser1320Ile) c.4625G>T (p.Ser1542Ile) c.2750G>T (p.Ser917Ile) c.4715G>T (p.Ser1572Ile) c.4712G>T (p.Ser1571Ile) c.4685G>T (p.Ser1562Ile) c.4463G>T (p.Ser1488Ile) c.4622G>T (p.Ser1541Ile) c.4682G>T (p.Ser1561Ile) | gnomAD v4 |
| 4 | g.153636372C>A | CA358506134 | TMEM131L | c.4629C>A (p.Ser1543Arg) c.3960C>A (p.Ser1320Arg) c.4626C>A (p.Ser1542Arg) c.2751C>A (p.Ser917Arg) c.4716C>A (p.Ser1572Arg) c.4713C>A (p.Ser1571Arg) c.4686C>A (p.Ser1562Arg) c.4464C>A (p.Ser1488Arg) c.4623C>A (p.Ser1541Arg) c.4683C>A (p.Ser1561Arg) | |
| 4 | g.153636372C= | CA1504512156 | TMEM131L | c.4629C= (p.Ser1543=) c.3960C= (p.Ser1320=) c.4626C= (p.Ser1542=) c.2751C= (p.Ser917=) c.4716C= (p.Ser1572=) c.4713C= (p.Ser1571=) c.4686C= (p.Ser1562=) c.4464C= (p.Ser1488=) c.4623C= (p.Ser1541=) c.4683C= (p.Ser1561=) | |
| 4 | g.153636372C>G | CA358506136 | TMEM131L | c.4629C>G (p.Ser1543Arg) c.3960C>G (p.Ser1320Arg) c.4626C>G (p.Ser1542Arg) c.2751C>G (p.Ser917Arg) c.4716C>G (p.Ser1572Arg) c.4713C>G (p.Ser1571Arg) c.4686C>G (p.Ser1562Arg) c.4464C>G (p.Ser1488Arg) c.4623C>G (p.Ser1541Arg) c.4683C>G (p.Ser1561Arg) | |
| 4 | g.153636372C>T | CA107951344 | TMEM131L | c.4629C>T (p.Ser1543=) c.3960C>T (p.Ser1320=) c.4626C>T (p.Ser1542=) c.2751C>T (p.Ser917=) c.4716C>T (p.Ser1572=) c.4713C>T (p.Ser1571=) c.4686C>T (p.Ser1562=) c.4464C>T (p.Ser1488=) c.4623C>T (p.Ser1541=) c.4683C>T (p.Ser1561=) | dbSNP gnomAD v4 |
| 4 | g.153636373G>A | CA358506139 | TMEM131L | c.4630G>A (p.Asp1544Asn) c.3961G>A (p.Asp1321Asn) c.4627G>A (p.Asp1543Asn) c.2752G>A (p.Asp918Asn) c.4717G>A (p.Asp1573Asn) c.4714G>A (p.Asp1572Asn) c.4687G>A (p.Asp1563Asn) c.4465G>A (p.Asp1489Asn) c.4624G>A (p.Asp1542Asn) c.4684G>A (p.Asp1562Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.153636373G>C | CA358506141 | TMEM131L | c.4630G>C (p.Asp1544His) c.3961G>C (p.Asp1321His) c.4627G>C (p.Asp1543His) c.2752G>C (p.Asp918His) c.4717G>C (p.Asp1573His) c.4714G>C (p.Asp1572His) c.4687G>C (p.Asp1563His) c.4465G>C (p.Asp1489His) c.4624G>C (p.Asp1542His) c.4684G>C (p.Asp1562His) | |
| 4 | g.153636373G= | CA1504512157 | TMEM131L | c.4630G= (p.Asp1544=) c.3961G= (p.Asp1321=) c.4627G= (p.Asp1543=) c.2752G= (p.Asp918=) c.4717G= (p.Asp1573=) c.4714G= (p.Asp1572=) c.4687G= (p.Asp1563=) c.4465G= (p.Asp1489=) c.4624G= (p.Asp1542=) c.4684G= (p.Asp1562=) | |
| 4 | g.153636373G>T | CA358506142 | TMEM131L | c.4630G>T (p.Asp1544Tyr) c.3961G>T (p.Asp1321Tyr) c.4627G>T (p.Asp1543Tyr) c.2752G>T (p.Asp918Tyr) c.4717G>T (p.Asp1573Tyr) c.4714G>T (p.Asp1572Tyr) c.4687G>T (p.Asp1563Tyr) c.4465G>T (p.Asp1489Tyr) c.4624G>T (p.Asp1542Tyr) c.4684G>T (p.Asp1562Tyr) | |
| 4 | g.153636374A>C | CA358506145 | TMEM131L | c.4631A>C (p.Asp1544Ala) c.3962A>C (p.Asp1321Ala) c.4628A>C (p.Asp1543Ala) c.2753A>C (p.Asp918Ala) c.4718A>C (p.Asp1573Ala) c.4715A>C (p.Asp1572Ala) c.4688A>C (p.Asp1563Ala) c.4466A>C (p.Asp1489Ala) c.4625A>C (p.Asp1542Ala) c.4685A>C (p.Asp1562Ala) | |
| 4 | g.153636374A>G | CA358506147 | TMEM131L | c.4631A>G (p.Asp1544Gly) c.3962A>G (p.Asp1321Gly) c.4628A>G (p.Asp1543Gly) c.2753A>G (p.Asp918Gly) c.4718A>G (p.Asp1573Gly) c.4715A>G (p.Asp1572Gly) c.4688A>G (p.Asp1563Gly) c.4466A>G (p.Asp1489Gly) c.4625A>G (p.Asp1542Gly) c.4685A>G (p.Asp1562Gly) | |
| 4 | g.153636374A>T | CA358506148 | TMEM131L | c.4631A>T (p.Asp1544Val) c.3962A>T (p.Asp1321Val) c.4628A>T (p.Asp1543Val) c.2753A>T (p.Asp918Val) c.4718A>T (p.Asp1573Val) c.4715A>T (p.Asp1572Val) c.4688A>T (p.Asp1563Val) c.4466A>T (p.Asp1489Val) c.4625A>T (p.Asp1542Val) c.4685A>T (p.Asp1562Val) | |
| 4 | g.153636375T>A | CA358506149 | TMEM131L | c.4632T>A (p.Asp1544Glu) c.3963T>A (p.Asp1321Glu) c.4629T>A (p.Asp1543Glu) c.2754T>A (p.Asp918Glu) c.4719T>A (p.Asp1573Glu) c.4716T>A (p.Asp1572Glu) c.4689T>A (p.Asp1563Glu) c.4467T>A (p.Asp1489Glu) c.4626T>A (p.Asp1542Glu) c.4686T>A (p.Asp1562Glu) | gnomAD v4 |
| 4 | g.153636375T>C | CA441799807 | TMEM131L | c.4632T>C (p.Asp1544=) c.3963T>C (p.Asp1321=) c.4629T>C (p.Asp1543=) c.2754T>C (p.Asp918=) c.4719T>C (p.Asp1573=) c.4716T>C (p.Asp1572=) c.4689T>C (p.Asp1563=) c.4467T>C (p.Asp1489=) c.4626T>C (p.Asp1542=) c.4686T>C (p.Asp1562=) | dbSNP gnomAD v4 |
| 4 | g.153636375T>G | CA358506151 | TMEM131L | c.4632T>G (p.Asp1544Glu) c.3963T>G (p.Asp1321Glu) c.4629T>G (p.Asp1543Glu) c.2754T>G (p.Asp918Glu) c.4719T>G (p.Asp1573Glu) c.4716T>G (p.Asp1572Glu) c.4689T>G (p.Asp1563Glu) c.4467T>G (p.Asp1489Glu) c.4626T>G (p.Asp1542Glu) c.4686T>G (p.Asp1562Glu) | |
| 4 | g.153636376G>A | CA358506157 | TMEM131L | c.4633G>A (p.Val1545Met) c.3964G>A (p.Val1322Met) c.4630G>A (p.Val1544Met) c.2755G>A (p.Val919Met) c.4720G>A (p.Val1574Met) c.4717G>A (p.Val1573Met) c.4690G>A (p.Val1564Met) c.4468G>A (p.Val1490Met) c.4627G>A (p.Val1543Met) c.4687G>A (p.Val1563Met) | |
| 4 | g.153636376G>C | CA358506155 | TMEM131L | c.4633G>C (p.Val1545Leu) c.3964G>C (p.Val1322Leu) c.4630G>C (p.Val1544Leu) c.2755G>C (p.Val919Leu) c.4720G>C (p.Val1574Leu) c.4717G>C (p.Val1573Leu) c.4690G>C (p.Val1564Leu) c.4468G>C (p.Val1490Leu) c.4627G>C (p.Val1543Leu) c.4687G>C (p.Val1563Leu) | dbSNP gnomAD v2 |
| 4 | g.153636376G= | CA1504512158 | TMEM131L | c.4633G= (p.Val1545=) c.3964G= (p.Val1322=) c.4630G= (p.Val1544=) c.2755G= (p.Val919=) c.4720G= (p.Val1574=) c.4717G= (p.Val1573=) c.4690G= (p.Val1564=) c.4468G= (p.Val1490=) c.4627G= (p.Val1543=) c.4687G= (p.Val1563=) | |
| 4 | g.153636376G>T | CA358506153 | TMEM131L | c.4633G>T (p.Val1545Leu) c.3964G>T (p.Val1322Leu) c.4630G>T (p.Val1544Leu) c.2755G>T (p.Val919Leu) c.4720G>T (p.Val1574Leu) c.4717G>T (p.Val1573Leu) c.4690G>T (p.Val1564Leu) c.4468G>T (p.Val1490Leu) c.4627G>T (p.Val1543Leu) c.4687G>T (p.Val1563Leu) | |
| 4 | g.153636377T>A | CA358506159 | TMEM131L | c.4634T>A (p.Val1545Glu) c.3965T>A (p.Val1322Glu) c.4631T>A (p.Val1544Glu) c.2756T>A (p.Val919Glu) c.4721T>A (p.Val1574Glu) c.4718T>A (p.Val1573Glu) c.4691T>A (p.Val1564Glu) c.4469T>A (p.Val1490Glu) c.4628T>A (p.Val1543Glu) c.4688T>A (p.Val1563Glu) | |
| 4 | g.153636377T>C | CA358506160 | TMEM131L | c.4634T>C (p.Val1545Ala) c.3965T>C (p.Val1322Ala) c.4631T>C (p.Val1544Ala) c.2756T>C (p.Val919Ala) c.4721T>C (p.Val1574Ala) c.4718T>C (p.Val1573Ala) c.4691T>C (p.Val1564Ala) c.4469T>C (p.Val1490Ala) c.4628T>C (p.Val1543Ala) c.4688T>C (p.Val1563Ala) | |
| 4 | g.153636377T>G | CA358506162 | TMEM131L | c.4634T>G (p.Val1545Gly) c.3965T>G (p.Val1322Gly) c.4631T>G (p.Val1544Gly) c.2756T>G (p.Val919Gly) c.4721T>G (p.Val1574Gly) c.4718T>G (p.Val1573Gly) c.4691T>G (p.Val1564Gly) c.4469T>G (p.Val1490Gly) c.4628T>G (p.Val1543Gly) c.4688T>G (p.Val1563Gly) | |
| 4 | g.153636378G>A | CA441799810 | TMEM131L | c.4635G>A (p.Val1545=) c.3966G>A (p.Val1322=) c.4632G>A (p.Val1544=) c.2757G>A (p.Val919=) c.4722G>A (p.Val1574=) c.4719G>A (p.Val1573=) c.4692G>A (p.Val1564=) c.4470G>A (p.Val1490=) c.4629G>A (p.Val1543=) c.4689G>A (p.Val1563=) | dbSNP gnomAD v4 |
| 4 | g.153636378G>C | CA441799809 | TMEM131L | c.4635G>C (p.Val1545=) c.3966G>C (p.Val1322=) c.4632G>C (p.Val1544=) c.2757G>C (p.Val919=) c.4722G>C (p.Val1574=) c.4719G>C (p.Val1573=) c.4692G>C (p.Val1564=) c.4470G>C (p.Val1490=) c.4629G>C (p.Val1543=) c.4689G>C (p.Val1563=) |