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 |
|---|---|---|---|---|---|
| 17 | g.17797940_17797951dup | CA2636388300 | RAI1 | c.4992_5003dup (p.Ser1668_Thr1669insProLeuSerSer) c.4656_4667dup (p.Ser1556_Thr1557insProLeuSerSer) | gnomAD v4 |
| 17 | g.17797943C>A | CA498426284 | RAI1 | c.4995C>A (p.Pro1665=) c.4659C>A (p.Pro1553=) | |
| 17 | g.17797943C>G | CA498426288 | RAI1 | c.4995C>G (p.Pro1665=) c.4659C>G (p.Pro1553=) | |
| 17 | g.17797943C>T | CA498426285 | RAI1 | c.4995C>T (p.Pro1665=) c.4659C>T (p.Pro1553=) | |
| 17 | g.17797944C>A | CA398558105 | RAI1 | c.4996C>A (p.Leu1666Ile) c.4660C>A (p.Leu1554Ile) | COSMIC |
| 17 | g.17797944C= | CA2250696266 | RAI1 | c.4996C= (p.Leu1666=) c.4660C= (p.Leu1554=) | |
| 17 | g.17797944C>G | CA8419081 | RAI1 | c.4996C>G (p.Leu1666Val) c.4660C>G (p.Leu1554Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17797944C>T | CA398558106 | RAI1 | c.4996C>T (p.Leu1666Phe) c.4660C>T (p.Leu1554Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17797945T>A | CA398558107 | RAI1 | c.4997T>A (p.Leu1666His) c.4661T>A (p.Leu1554His) | |
| 17 | g.17797945T>C | CA398558108 | RAI1 | c.4997T>C (p.Leu1666Pro) c.4661T>C (p.Leu1554Pro) | |
| 17 | g.17797945T>G | CA8419082 | RAI1 | c.4997T>G (p.Leu1666Arg) c.4661T>G (p.Leu1554Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17797945T= | CA2250696270 | RAI1 | c.4997T= (p.Leu1666=) c.4661T= (p.Leu1554=) | |
| 17 | g.17797946C>A | CA498426295 | RAI1 | c.4998C>A (p.Leu1666=) c.4662C>A (p.Leu1554=) | |
| 17 | g.17797946C= | CA2250696279 | RAI1 | c.4998C= (p.Leu1666=) c.4662C= (p.Leu1554=) | |
| 17 | g.17797946C>G | CA498426297 | RAI1 | c.4998C>G (p.Leu1666=) c.4662C>G (p.Leu1554=) | |
| 17 | g.17797946C>T | CA288371713 | RAI1 | c.4998C>T (p.Leu1666=) c.4662C>T (p.Leu1554=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17797950_17797952del | CA2636388301 | RAI1 | c.5002_5004del (p.Ser1668del) c.4666_4668del (p.Ser1556del) | gnomAD v4 |
| 17 | g.17797947T>A | CA398558109 | RAI1 | c.4999T>A (p.Ser1667Thr) c.4663T>A (p.Ser1555Thr) | |
| 17 | g.17797947T>C | CA398558110 | RAI1 | c.4999T>C (p.Ser1667Pro) c.4663T>C (p.Ser1555Pro) | ClinVar dbSNP |
| 17 | g.17797947T>G | CA398558111 | RAI1 | c.4999T>G (p.Ser1667Ala) c.4663T>G (p.Ser1555Ala) | |
| 17 | g.17797947T= | CA2250696287 | RAI1 | c.4999T= (p.Ser1667=) c.4663T= (p.Ser1555=) | |
| 17 | g.17797948C>A | CA398558114 | RAI1 | c.5000C>A (p.Ser1667Tyr) c.4664C>A (p.Ser1555Tyr) | gnomAD v4 |
| 17 | g.17797948C>G | CA398558113 | RAI1 | c.5000C>G (p.Ser1667Cys) c.4664C>G (p.Ser1555Cys) | |
| 17 | g.17797948C>T | CA398558112 | RAI1 | c.5000C>T (p.Ser1667Phe) c.4664C>T (p.Ser1555Phe) | gnomAD v4 |
| 17 | g.17797949C>A | CA498426299 | RAI1 | c.5001C>A (p.Ser1667=) c.4665C>A (p.Ser1555=) | |
| 17 | g.17797949C>G | CA498426300 | RAI1 | c.5001C>G (p.Ser1667=) c.4665C>G (p.Ser1555=) | |
| 17 | g.17797949C>T | CA498426301 | RAI1 | c.5001C>T (p.Ser1667=) c.4665C>T (p.Ser1555=) | COSMIC |
| 17 | g.17797950T>A | CA398558115 | RAI1 | c.5002T>A (p.Ser1668Thr) c.4666T>A (p.Ser1556Thr) | |
| 17 | g.17797950T>C | CA398558116 | RAI1 | c.5002T>C (p.Ser1668Pro) c.4666T>C (p.Ser1556Pro) | |
| 17 | g.17797950T>G | CA398558117 | RAI1 | c.5002T>G (p.Ser1668Ala) c.4666T>G (p.Ser1556Ala) | |
| 17 | g.17797951C>A | CA398558118 | RAI1 | c.5003C>A (p.Ser1668Tyr) c.4667C>A (p.Ser1556Tyr) | |
| 17 | g.17797951C>G | CA398558119 | RAI1 | c.5003C>G (p.Ser1668Cys) c.4667C>G (p.Ser1556Cys) | |
| 17 | g.17797951C>T | CA398558120 | RAI1 | c.5003C>T (p.Ser1668Phe) c.4667C>T (p.Ser1556Phe) | |
| 17 | g.17797952_17797954del | CA2808653732 | RAI1 | c.5004_5006del (p.Thr1669del) c.4668_4670del (p.Thr1557del) | |
| 17 | g.17797952C>A | CA498426303 | RAI1 | c.5004C>A (p.Ser1668=) c.4668C>A (p.Ser1556=) | |
| 17 | g.17797952C>G | CA498426304 | RAI1 | c.5004C>G (p.Ser1668=) c.4668C>G (p.Ser1556=) | |
| 17 | g.17797952C>T | CA498426305 | RAI1 | c.5004C>T (p.Ser1668=) c.4668C>T (p.Ser1556=) | |
| 17 | g.17797953A= | CA2250696293 | RAI1 | c.5005A= (p.Thr1669=) c.4669A= (p.Thr1557=) | |
| 17 | g.17797953A>C | CA398558121 | RAI1 | c.5005A>C (p.Thr1669Pro) c.4669A>C (p.Thr1557Pro) | |
| 17 | g.17797953A>G | CA288371716 | RAI1 | c.5005A>G (p.Thr1669Ala) c.4669A>G (p.Thr1557Ala) | dbSNP |
| 17 | g.17797953A>T | CA398558122 | RAI1 | c.5005A>T (p.Thr1669Ser) c.4669A>T (p.Thr1557Ser) | |
| 17 | g.17797954C>A | CA398558123 | RAI1 | c.5006C>A (p.Thr1669Lys) c.4670C>A (p.Thr1557Lys) | |
| 17 | g.17797954C= | CA2250696299 | RAI1 | c.5006C= (p.Thr1669=) c.4670C= (p.Thr1557=) | |
| 17 | g.17797954C>G | CA398558124 | RAI1 | c.5006C>G (p.Thr1669Arg) c.4670C>G (p.Thr1557Arg) | |
| 17 | g.17797954C>T | CA288371718 | RAI1 | c.5006C>T (p.Thr1669Met) c.4670C>T (p.Thr1557Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.17797955G>A | CA8419083 | RAI1 | c.5007G>A (p.Thr1669=) c.4671G>A (p.Thr1557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.17797955G>C | CA498426313 | RAI1 | c.5007G>C (p.Thr1669=) c.4671G>C (p.Thr1557=) | dbSNP gnomAD v4 |
| 17 | g.17797955G= | CA2250696305 | RAI1 | c.5007G= (p.Thr1669=) c.4671G= (p.Thr1557=) | |
| 17 | g.17797955G>T | CA498426315 | RAI1 | c.5007G>T (p.Thr1669=) c.4671G>T (p.Thr1557=) | |
| 17 | g.17797956A>C | CA398558126 | RAI1 | c.5008A>C (p.Met1670Leu) c.4672A>C (p.Met1558Leu) | |
| 17 | g.17797956A>G | CA398558127 | RAI1 | c.5008A>G (p.Met1670Val) c.4672A>G (p.Met1558Val) | gnomAD v4 |
| 17 | g.17797956A>T | CA398558125 | RAI1 | c.5008A>T (p.Met1670Leu) c.4672A>T (p.Met1558Leu) | gnomAD v4 |
| 17 | g.17797957_17797960del | CA2808653733 | RAI1 | c.5009_5012del (p.Met1670ThrfsTer10) c.4673_4676del (p.Met1558ThrfsTer10) | |
| 17 | g.17797957T>A | CA398558128 | RAI1 | c.5009T>A (p.Met1670Lys) c.4673T>A (p.Met1558Lys) | |
| 17 | g.17797957T>C | CA398558129 | RAI1 | c.5009T>C (p.Met1670Thr) c.4673T>C (p.Met1558Thr) | gnomAD v4 |
| 17 | g.17797957T>G | CA398558130 | RAI1 | c.5009T>G (p.Met1670Arg) c.4673T>G (p.Met1558Arg) | |
| 17 | g.17797958G>A | CA398558131 | RAI1 | c.5010G>A (p.Met1670Ile) c.4674G>A (p.Met1558Ile) | |
| 17 | g.17797958G>C | CA398558132 | RAI1 | c.5010G>C (p.Met1670Ile) c.4674G>C (p.Met1558Ile) | |
| 17 | g.17797958G>T | CA398558133 | RAI1 | c.5010G>T (p.Met1670Ile) c.4674G>T (p.Met1558Ile) | |
| 17 | g.17797959C>A | CA398558134 | RAI1 | c.5011C>A (p.His1671Asn) c.4675C>A (p.His1559Asn) | |
| 17 | g.17797959C>G | CA398558136 | RAI1 | c.5011C>G (p.His1671Asp) c.4675C>G (p.His1559Asp) | |
| 17 | g.17797959C>T | CA398558135 | RAI1 | c.5011C>T (p.His1671Tyr) c.4675C>T (p.His1559Tyr) | gnomAD v4 |
| 17 | g.17797960A= | CA2250696320 | RAI1 | c.5012A= (p.His1671=) c.4676A= (p.His1559=) | |
| 17 | g.17797960A>C | CA288371723 | RAI1 | c.5012A>C (p.His1671Pro) c.4676A>C (p.His1559Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17797960A>G | CA288371725 | RAI1 | c.5012A>G (p.His1671Arg) c.4676A>G (p.His1559Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17797960A>T | CA398558137 | RAI1 | c.5012A>T (p.His1671Leu) c.4676A>T (p.His1559Leu) | |
| 17 | g.17797961C>A | CA398558138 | RAI1 | c.5013C>A (p.His1671Gln) c.4677C>A (p.His1559Gln) | |
| 17 | g.17797961C= | CA2250696326 | RAI1 | c.5013C= (p.His1671=) c.4677C= (p.His1559=) | |
| 17 | g.17797961C>G | CA398558139 | RAI1 | c.5013C>G (p.His1671Gln) c.4677C>G (p.His1559Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17797961C>T | CA498426326 | RAI1 | c.5013C>T (p.His1671=) c.4677C>T (p.His1559=) | |
| 17 | g.17797962T>A | CA398558141 | RAI1 | c.5014T>A (p.Leu1672Met) c.4678T>A (p.Leu1560Met) | |
| 17 | g.17797962T>C | CA498426330 | RAI1 | c.5014T>C (p.Leu1672=) c.4678T>C (p.Leu1560=) | gnomAD v4 |
| 17 | g.17797962T>G | CA398558140 | RAI1 | c.5014T>G (p.Leu1672Val) c.4678T>G (p.Leu1560Val) | |
| 17 | g.17797963T>A | CA398558142 | RAI1 | c.5015T>A (p.Leu1672Ter) c.4679T>A (p.Leu1560Ter) | |
| 17 | g.17797963T>C | CA398558144 | RAI1 | c.5015T>C (p.Leu1672Ser) c.4679T>C (p.Leu1560Ser) | |
| 17 | g.17797963T>G | CA398558143 | RAI1 | c.5015T>G (p.Leu1672Trp) c.4679T>G (p.Leu1560Trp) | |
| 17 | g.17797963_17797968del | CA2808653734 | RAI1 | c.5015_5020del (p.Leu1672_Pro1674delinsSer) c.4679_4684del (p.Leu1560_Pro1562delinsSer) | |
| 17 | g.17797964G>A | CA498426334 | RAI1 | c.5016G>A (p.Leu1672=) c.4680G>A (p.Leu1560=) | |
| 17 | g.17797964G>C | CA398558145 | RAI1 | c.5016G>C (p.Leu1672Phe) c.4680G>C (p.Leu1560Phe) | |
| 17 | g.17797964G>T | CA398558146 | RAI1 | c.5016G>T (p.Leu1672Phe) c.4680G>T (p.Leu1560Phe) | |
| 17 | g.17797965G>A | CA398558147 | RAI1 | c.5017G>A (p.Gly1673Arg) c.4681G>A (p.Gly1561Arg) | |
| 17 | g.17797965G>C | CA398558149 | RAI1 | c.5017G>C (p.Gly1673Arg) c.4681G>C (p.Gly1561Arg) | |
| 17 | g.17797965G= | CA2250696336 | RAI1 | c.5017G= (p.Gly1673=) c.4681G= (p.Gly1561=) | |
| 17 | g.17797965G>T | CA398558148 | RAI1 | c.5017G>T (p.Gly1673Trp) c.4681G>T (p.Gly1561Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17797966G>A | CA398558150 | RAI1 | c.5018G>A (p.Gly1673Glu) c.4682G>A (p.Gly1561Glu) | |
| 17 | g.17797966G>C | CA398558151 | RAI1 | c.5018G>C (p.Gly1673Ala) c.4682G>C (p.Gly1561Ala) | |
| 17 | g.17797966G>T | CA398558152 | RAI1 | c.5018G>T (p.Gly1673Val) c.4682G>T (p.Gly1561Val) | |
| 17 | g.17797967G>A | CA8419084 | RAI1 | c.5019G>A (p.Gly1673=) c.4683G>A (p.Gly1561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17797967G>C | CA498426336 | RAI1 | c.5019G>C (p.Gly1673=) c.4683G>C (p.Gly1561=) | |
| 17 | g.17797967G= | CA2250696340 | RAI1 | c.5019G= (p.Gly1673=) c.4683G= (p.Gly1561=) | |
| 17 | g.17797967G>T | CA498426337 | RAI1 | c.5019G>T (p.Gly1673=) c.4683G>T (p.Gly1561=) | |
| 17 | g.17797968C>A | CA398558153 | RAI1 | c.5020C>A (p.Pro1674Thr) c.4684C>A (p.Pro1562Thr) | |
| 17 | g.17797968C>G | CA398558154 | RAI1 | c.5020C>G (p.Pro1674Ala) c.4684C>G (p.Pro1562Ala) | |
| 17 | g.17797968C>T | CA398558155 | RAI1 | c.5020C>T (p.Pro1674Ser) c.4684C>T (p.Pro1562Ser) | |
| 17 | g.17797969C>A | CA398558156 | RAI1 | c.5021C>A (p.Pro1674His) c.4685C>A (p.Pro1562His) | |
| 17 | g.17797969C>G | CA398558157 | RAI1 | c.5021C>G (p.Pro1674Arg) c.4685C>G (p.Pro1562Arg) | |
| 17 | g.17797969C>T | CA398558158 | RAI1 | c.5021C>T (p.Pro1674Leu) c.4685C>T (p.Pro1562Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17797970T>A | CA498426343 | RAI1 | c.5022T>A (p.Pro1674=) c.4686T>A (p.Pro1562=) | |
| 17 | g.17797970T>C | CA288371726 | RAI1 | c.5022T>C (p.Pro1674=) c.4686T>C (p.Pro1562=) | ClinVar dbSNP |
| 17 | g.17797970T>G | CA498426344 | RAI1 | c.5022T>G (p.Pro1674=) c.4686T>G (p.Pro1562=) | |
| 17 | g.17797970T= | CA2250696341 | RAI1 | c.5022T= (p.Pro1674=) c.4686T= (p.Pro1562=) | |
| 17 | g.17797971G>A | CA398558160 | RAI1 | c.5023G>A (p.Val1675Met) c.4687G>A (p.Val1563Met) | |
| 17 | g.17797971G>C | CA243528 | RAI1 | c.5023G>C (p.Val1675Leu) c.4687G>C (p.Val1563Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17797971G= | CA2250696345 | RAI1 | c.5023G= (p.Val1675=) c.4687G= (p.Val1563=) | |
| 17 | g.17797971G>T | CA398558159 | RAI1 | c.5023G>T (p.Val1675Leu) c.4687G>T (p.Val1563Leu) | |
| 17 | g.17797971_17797992del | CA2808653735 | RAI1 | c.5023_5044del (p.Val1675ProfsTer?) c.4687_4708del (p.Val1563ProfsTer?) | |
| 17 | g.17797972T>A | CA398558161 | RAI1 | c.5024T>A (p.Val1675Glu) c.4688T>A (p.Val1563Glu) | |
| 17 | g.17797972T>C | CA288371728 | RAI1 | c.5024T>C (p.Val1675Ala) c.4688T>C (p.Val1563Ala) | dbSNP gnomAD v4 |
| 17 | g.17797972T>G | CA398558162 | RAI1 | c.5024T>G (p.Val1675Gly) c.4688T>G (p.Val1563Gly) | |
| 17 | g.17797972T= | CA2250696357 | RAI1 | c.5024T= (p.Val1675=) c.4688T= (p.Val1563=) | |
| 17 | g.17797973G>A | CA498426353 | RAI1 | c.5025G>A (p.Val1675=) c.4689G>A (p.Val1563=) | |
| 17 | g.17797973G>C | CA498426354 | RAI1 | c.5025G>C (p.Val1675=) c.4689G>C (p.Val1563=) | gnomAD v4 |
| 17 | g.17797973G>T | CA498426355 | RAI1 | c.5025G>T (p.Val1675=) c.4689G>T (p.Val1563=) | |
| 17 | g.17797974G>A | CA398558163 | RAI1 | c.5026G>A (p.Val1676Ile) c.4690G>A (p.Val1564Ile) | |
| 17 | g.17797974G>C | CA398558164 | RAI1 | c.5026G>C (p.Val1676Leu) c.4690G>C (p.Val1564Leu) | |
| 17 | g.17797974G>T | CA398558165 | RAI1 | c.5026G>T (p.Val1676Phe) c.4690G>T (p.Val1564Phe) | |
| 17 | g.17797975T>A | CA398558166 | RAI1 | c.5027T>A (p.Val1676Asp) c.4691T>A (p.Val1564Asp) | |
| 17 | g.17797975T>C | CA398558167 | RAI1 | c.5027T>C (p.Val1676Ala) c.4691T>C (p.Val1564Ala) | |
| 17 | g.17797975T>G | CA398558168 | RAI1 | c.5027T>G (p.Val1676Gly) c.4691T>G (p.Val1564Gly) | |
| 17 | g.17797976T>A | CA498426359 | RAI1 | c.5028T>A (p.Val1676=) c.4692T>A (p.Val1564=) | |
| 17 | g.17797976T>C | CA498426360 | RAI1 | c.5028T>C (p.Val1676=) c.4692T>C (p.Val1564=) | |
| 17 | g.17797976T>G | CA498426361 | RAI1 | c.5028T>G (p.Val1676=) c.4692T>G (p.Val1564=) | gnomAD v4 |
| 17 | g.17797977T>A | CA398558169 | RAI1 | c.5029T>A (p.Ser1677Thr) c.4693T>A (p.Ser1565Thr) | |
| 17 | g.17797977T>C | CA398558170 | RAI1 | c.5029T>C (p.Ser1677Pro) c.4693T>C (p.Ser1565Pro) | |
| 17 | g.17797977T>G | CA398558171 | RAI1 | c.5029T>G (p.Ser1677Ala) c.4693T>G (p.Ser1565Ala) | |
| 17 | g.17797978C>A | CA398558173 | RAI1 | c.5030C>A (p.Ser1677Tyr) c.4694C>A (p.Ser1565Tyr) | |
| 17 | g.17797978C= | CA2250696365 | RAI1 | c.5030C= (p.Ser1677=) c.4694C= (p.Ser1565=) | |
| 17 | g.17797978C>G | CA398558172 | RAI1 | c.5030C>G (p.Ser1677Cys) c.4694C>G (p.Ser1565Cys) | |
| 17 | g.17797978C>T | CA288371731 | RAI1 | c.5030C>T (p.Ser1677Phe) c.4694C>T (p.Ser1565Phe) | dbSNP gnomAD v4 |
| 17 | g.17797979C>A | CA498426370 | RAI1 | c.5031C>A (p.Ser1677=) c.4695C>A (p.Ser1565=) | |
| 17 | g.17797979C>G | CA498426372 | RAI1 | c.5031C>G (p.Ser1677=) c.4695C>G (p.Ser1565=) | |
| 17 | g.17797979C>T | CA498426374 | RAI1 | c.5031C>T (p.Ser1677=) c.4695C>T (p.Ser1565=) | |
| 17 | g.17797980A>C | CA398558176 | RAI1 | c.5032A>C (p.Lys1678Gln) c.4696A>C (p.Lys1566Gln) | |
| 17 | g.17797980A>G | CA398558174 | RAI1 | c.5032A>G (p.Lys1678Glu) c.4696A>G (p.Lys1566Glu) | gnomAD v4 |
| 17 | g.17797980A>T | CA398558175 | RAI1 | c.5032A>T (p.Lys1678Ter) c.4696A>T (p.Lys1566Ter) | |
| 17 | g.17797981A>C | CA398558177 | RAI1 | c.5033A>C (p.Lys1678Thr) c.4697A>C (p.Lys1566Thr) | |
| 17 | g.17797981A>G | CA398558178 | RAI1 | c.5033A>G (p.Lys1678Arg) c.4697A>G (p.Lys1566Arg) | |
| 17 | g.17797981A>T | CA398558179 | RAI1 | c.5033A>T (p.Lys1678Met) c.4697A>T (p.Lys1566Met) | |
| 17 | g.17797982G>A | CA498425449 | RAI1 | c.5034G>A (p.Lys1678=) c.4698G>A (p.Lys1566=) | |
| 17 | g.17797982G>C | CA398558180 | RAI1 | c.5034G>C (p.Lys1678Asn) c.4698G>C (p.Lys1566Asn) | |
| 17 | g.17797982G>T | CA398558181 | RAI1 | c.5034G>T (p.Lys1678Asn) c.4698G>T (p.Lys1566Asn) | |
| 17 | g.17797983G>A | CA398558182 | RAI1 | c.5035G>A (p.Ala1679Thr) c.4699G>A (p.Ala1567Thr) | |
| 17 | g.17797983G>C | CA398558184 | RAI1 | c.5035G>C (p.Ala1679Pro) c.4699G>C (p.Ala1567Pro) | |
| 17 | g.17797983G>T | CA398558183 | RAI1 | c.5035G>T (p.Ala1679Ser) c.4699G>T (p.Ala1567Ser) | gnomAD v4 |
| 17 | g.17797984C>A | CA398558185 | RAI1 | c.5036C>A (p.Ala1679Asp) c.4700C>A (p.Ala1567Asp) | |
| 17 | g.17797984C= | CA2250696376 | RAI1 | c.5036C= (p.Ala1679=) c.4700C= (p.Ala1567=) | |
| 17 | g.17797984C>G | CA398558186 | RAI1 | c.5036C>G (p.Ala1679Gly) c.4700C>G (p.Ala1567Gly) | |
| 17 | g.17797984C>T | CA243550 | RAI1 | c.5036C>T (p.Ala1679Val) c.4700C>T (p.Ala1567Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17797985C>A | CA498425456 | RAI1 | c.5037C>A (p.Ala1679=) c.4701C>A (p.Ala1567=) | gnomAD v4 |
| 17 | g.17797985C= | CA2250696393 | RAI1 | c.5037C= (p.Ala1679=) c.4701C= (p.Ala1567=) | |
| 17 | g.17797985C>G | CA498425455 | RAI1 | c.5037C>G (p.Ala1679=) c.4701C>G (p.Ala1567=) | |
| 17 | g.17797985C>T | CA8419085 | RAI1 | c.5037C>T (p.Ala1679=) c.4701C>T (p.Ala1567=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17797986C>A | CA398558187 | RAI1 | c.5038C>A (p.Leu1680Met) c.4702C>A (p.Leu1568Met) | |
| 17 | g.17797986C= | CA2250696397 | RAI1 | c.5038C= (p.Leu1680=) c.4702C= (p.Leu1568=) | |
| 17 | g.17797986C>G | CA398558188 | RAI1 | c.5038C>G (p.Leu1680Val) c.4702C>G (p.Leu1568Val) | |
| 17 | g.17797986C>T | CA8419086 | RAI1 | c.5038C>T (p.Leu1680=) c.4702C>T (p.Leu1568=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17797987T>A | CA398558189 | RAI1 | c.5039T>A (p.Leu1680Gln) c.4703T>A (p.Leu1568Gln) | |
| 17 | g.17797987T>C | CA398558190 | RAI1 | c.5039T>C (p.Leu1680Pro) c.4703T>C (p.Leu1568Pro) | COSMIC |
| 17 | g.17797987T>G | CA398558191 | RAI1 | c.5039T>G (p.Leu1680Arg) c.4703T>G (p.Leu1568Arg) | |
| 17 | g.17797988G>A | CA498425462 | RAI1 | c.5040G>A (p.Leu1680=) c.4704G>A (p.Leu1568=) | |
| 17 | g.17797988G>C | CA498425465 | RAI1 | c.5040G>C (p.Leu1680=) c.4704G>C (p.Leu1568=) | |
| 17 | g.17797988G>T | CA498425464 | RAI1 | c.5040G>T (p.Leu1680=) c.4704G>T (p.Leu1568=) | |
| 17 | g.17797989A>C | CA398558192 | RAI1 | c.5041A>C (p.Ser1681Arg) c.4705A>C (p.Ser1569Arg) | |
| 17 | g.17797989A>G | CA398558193 | RAI1 | c.5041A>G (p.Ser1681Gly) c.4705A>G (p.Ser1569Gly) | COSMIC |
| 17 | g.17797989A>T | CA398558194 | RAI1 | c.5041A>T (p.Ser1681Cys) c.4705A>T (p.Ser1569Cys) | |
| 17 | g.17797990G>A | CA398558195 | RAI1 | c.5042G>A (p.Ser1681Asn) c.4706G>A (p.Ser1569Asn) | |
| 17 | g.17797990G>C | CA398558196 | RAI1 | c.5042G>C (p.Ser1681Thr) c.4706G>C (p.Ser1569Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17797990G= | CA2250696403 | RAI1 | c.5042G= (p.Ser1681=) c.4706G= (p.Ser1569=) | |
| 17 | g.17797990G>T | CA398558197 | RAI1 | c.5042G>T (p.Ser1681Ile) c.4706G>T (p.Ser1569Ile) | dbSNP |
| 17 | g.17797991T>A | CA398558198 | RAI1 | c.5043T>A (p.Ser1681Arg) c.4707T>A (p.Ser1569Arg) | |
| 17 | g.17797991T>C | CA498425470 | RAI1 | c.5043T>C (p.Ser1681=) c.4707T>C (p.Ser1569=) | |
| 17 | g.17797991T>G | CA398558199 | RAI1 | c.5043T>G (p.Ser1681Arg) c.4707T>G (p.Ser1569Arg) | |
| 17 | g.17797992A= | CA2250696410 | RAI1 | c.5044A= (p.Thr1682=) c.4708A= (p.Thr1570=) | |
| 17 | g.17797992A>C | CA398558201 | RAI1 | c.5044A>C (p.Thr1682Pro) c.4708A>C (p.Thr1570Pro) | dbSNP |
| 17 | g.17797992A>G | CA398558202 | RAI1 | c.5044A>G (p.Thr1682Ala) c.4708A>G (p.Thr1570Ala) | |
| 17 | g.17797992A>T | CA398558200 | RAI1 | c.5044A>T (p.Thr1682Ser) c.4708A>T (p.Thr1570Ser) | |
| 17 | g.17797993C>A | CA398558203 | RAI1 | c.5045C>A (p.Thr1682Asn) c.4709C>A (p.Thr1570Asn) | |
| 17 | g.17797993C= | CA2250696414 | RAI1 | c.5045C= (p.Thr1682=) c.4709C= (p.Thr1570=) | |
| 17 | g.17797993C>G | CA398558205 | RAI1 | c.5045C>G (p.Thr1682Ser) c.4709C>G (p.Thr1570Ser) | gnomAD v4 |
| 17 | g.17797993C>T | CA398558204 | RAI1 | c.5045C>T (p.Thr1682Ile) c.4709C>T (p.Thr1570Ile) | dbSNP |
| 17 | g.17797994C>A | CA498425474 | RAI1 | c.5046C>A (p.Thr1682=) c.4710C>A (p.Thr1570=) | |
| 17 | g.17797994C= | CA2250696419 | RAI1 | c.5046C= (p.Thr1682=) c.4710C= (p.Thr1570=) | |
| 17 | g.17797994C>G | CA498425475 | RAI1 | c.5046C>G (p.Thr1682=) c.4710C>G (p.Thr1570=) | dbSNP |
| 17 | g.17797994C>T | CA498425477 | RAI1 | c.5046C>T (p.Thr1682=) c.4710C>T (p.Thr1570=) | ClinVar dbSNP gnomAD v2 |
| 17 | g.17797995T>A | CA398558206 | RAI1 | c.5047T>A (p.Ser1683Thr) c.4711T>A (p.Ser1571Thr) | |
| 17 | g.17797995T>C | CA398558207 | RAI1 | c.5047T>C (p.Ser1683Pro) c.4711T>C (p.Ser1571Pro) | |
| 17 | g.17797995T>G | CA398558208 | RAI1 | c.5047T>G (p.Ser1683Ala) c.4711T>G (p.Ser1571Ala) | |
| 17 | g.17797996C>A | CA398558209 | RAI1 | c.5048C>A (p.Ser1683Tyr) c.4712C>A (p.Ser1571Tyr) | |
| 17 | g.17797996C>G | CA398558210 | RAI1 | c.5048C>G (p.Ser1683Cys) c.4712C>G (p.Ser1571Cys) | |
| 17 | g.17797996C>T | CA398558211 | RAI1 | c.5048C>T (p.Ser1683Phe) c.4712C>T (p.Ser1571Phe) | gnomAD v4 |
| 17 | g.17797997T>A | CA498425484 | RAI1 | c.5049T>A (p.Ser1683=) c.4713T>A (p.Ser1571=) | |
| 17 | g.17797997T>C | CA498425485 | RAI1 | c.5049T>C (p.Ser1683=) c.4713T>C (p.Ser1571=) | |
| 17 | g.17797997T>G | CA498425483 | RAI1 | c.5049T>G (p.Ser1683=) c.4713T>G (p.Ser1571=) | |
| 17 | g.17797997_17797998del | CA2808653736 | RAI1 | c.5049_5050del (p.Cys1684ProfsTer25) c.4713_4714del (p.Cys1572ProfsTer25) | |
| 17 | g.17797998T>A | CA398558212 | RAI1 | c.5050T>A (p.Cys1684Ser) c.4714T>A (p.Cys1572Ser) | |
| 17 | g.17797998T>C | CA398558213 | RAI1 | c.5050T>C (p.Cys1684Arg) c.4714T>C (p.Cys1572Arg) | |
| 17 | g.17797998T>G | CA398558214 | RAI1 | c.5050T>G (p.Cys1684Gly) c.4714T>G (p.Cys1572Gly) | |
| 17 | g.17797999G>A | CA398558217 | RAI1 | c.5051G>A (p.Cys1684Tyr) c.4715G>A (p.Cys1572Tyr) | |
| 17 | g.17797999G>C | CA398558216 | RAI1 | c.5051G>C (p.Cys1684Ser) c.4715G>C (p.Cys1572Ser) | |
| 17 | g.17797999G>T | CA398558215 | RAI1 | c.5051G>T (p.Cys1684Phe) c.4715G>T (p.Cys1572Phe) | |
| 17 | g.17798000C>A | CA398558218 | RAI1 | c.5052C>A (p.Cys1684Ter) c.4716C>A (p.Cys1572Ter) | |
| 17 | g.17798000C= | CA2250696424 | RAI1 | c.5052C= (p.Cys1684=) c.4716C= (p.Cys1572=) | |
| 17 | g.17798000C>G | CA398558219 | RAI1 | c.5052C>G (p.Cys1684Trp) c.4716C>G (p.Cys1572Trp) | |
| 17 | g.17798000C>T | CA288371750 | RAI1 | c.5052C>T (p.Cys1684=) c.4716C>T (p.Cys1572=) | dbSNP |
| 17 | g.17798001C>A | CA398558220 | RAI1 | c.5053C>A (p.Leu1685Ile) c.4717C>A (p.Leu1573Ile) | |
| 17 | g.17798001C>G | CA398558221 | RAI1 | c.5053C>G (p.Leu1685Val) c.4717C>G (p.Leu1573Val) | |
| 17 | g.17798001C>T | CA398558222 | RAI1 | c.5053C>T (p.Leu1685Phe) c.4717C>T (p.Leu1573Phe) | gnomAD v4 |
| 17 | g.17798002T>A | CA398558223 | RAI1 | c.5054T>A (p.Leu1685His) c.4718T>A (p.Leu1573His) | |
| 17 | g.17798002T>C | CA398558224 | RAI1 | c.5054T>C (p.Leu1685Pro) c.4718T>C (p.Leu1573Pro) | |
| 17 | g.17798002T>G | CA398558225 | RAI1 | c.5054T>G (p.Leu1685Arg) c.4718T>G (p.Leu1573Arg) | |
| 17 | g.17798002_17798011del | CA2808653737 | RAI1 | c.5054_5063del (p.Leu1685ProfsTer?) c.4718_4727del (p.Leu1573ProfsTer?) | |
| 17 | g.17798003T>A | CA498425488 | RAI1 | c.5055T>A (p.Leu1685=) c.4719T>A (p.Leu1573=) | |
| 17 | g.17798003T>C | CA498425489 | RAI1 | c.5055T>C (p.Leu1685=) c.4719T>C (p.Leu1573=) | gnomAD v4 |
| 17 | g.17798003T>G | CA498425490 | RAI1 | c.5055T>G (p.Leu1685=) c.4719T>G (p.Leu1573=) | |
| 17 | g.17798004G>A | CA398558226 | RAI1 | c.5056G>A (p.Val1686Ile) c.4720G>A (p.Val1574Ile) | |
| 17 | g.17798004G>C | CA398558227 | RAI1 | c.5056G>C (p.Val1686Leu) c.4720G>C (p.Val1574Leu) | |
| 17 | g.17798004G= | CA2250696428 | RAI1 | c.5056G= (p.Val1686=) c.4720G= (p.Val1574=) | |
| 17 | g.17798004G>T | CA8419087 | RAI1 | c.5056G>T (p.Val1686Phe) c.4720G>T (p.Val1574Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798005T>A | CA398558229 | RAI1 | c.5057T>A (p.Val1686Asp) c.4721T>A (p.Val1574Asp) | |
| 17 | g.17798005T>C | CA398558230 | RAI1 | c.5057T>C (p.Val1686Ala) c.4721T>C (p.Val1574Ala) | |
| 17 | g.17798005T>G | CA398558228 | RAI1 | c.5057T>G (p.Val1686Gly) c.4721T>G (p.Val1574Gly) | |
| 17 | g.17798006T>A | CA498425492 | RAI1 | c.5058T>A (p.Val1686=) c.4722T>A (p.Val1574=) | |
| 17 | g.17798006T>C | CA498425493 | RAI1 | c.5058T>C (p.Val1686=) c.4722T>C (p.Val1574=) | |
| 17 | g.17798006T>G | CA498425494 | RAI1 | c.5058T>G (p.Val1686=) c.4722T>G (p.Val1574=) | |
| 17 | g.17798007T>A | CA398558231 | RAI1 | c.5059T>A (p.Cys1687Ser) c.4723T>A (p.Cys1575Ser) | |
| 17 | g.17798007T>C | CA398558232 | RAI1 | c.5059T>C (p.Cys1687Arg) c.4723T>C (p.Cys1575Arg) | |
| 17 | g.17798007T>G | CA398558233 | RAI1 | c.5059T>G (p.Cys1687Gly) c.4723T>G (p.Cys1575Gly) | |
| 17 | g.17798008G>A | CA398558234 | RAI1 | c.5060G>A (p.Cys1687Tyr) c.4724G>A (p.Cys1575Tyr) | |
| 17 | g.17798008G>C | CA398558235 | RAI1 | c.5060G>C (p.Cys1687Ser) c.4724G>C (p.Cys1575Ser) | |
| 17 | g.17798008G>T | CA398558236 | RAI1 | c.5060G>T (p.Cys1687Phe) c.4724G>T (p.Cys1575Phe) | |
| 17 | g.17798009C>A | CA398558237 | RAI1 | c.5061C>A (p.Cys1687Ter) c.4725C>A (p.Cys1575Ter) | |
| 17 | g.17798009C>G | CA398558238 | RAI1 | c.5061C>G (p.Cys1687Trp) c.4725C>G (p.Cys1575Trp) | |
| 17 | g.17798009C>T | CA498425496 | RAI1 | c.5061C>T (p.Cys1687=) c.4725C>T (p.Cys1575=) | gnomAD v4 |
| 17 | g.17798010T>A | CA398558239 | RAI1 | c.5062T>A (p.Cys1688Ser) c.4726T>A (p.Cys1576Ser) | |
| 17 | g.17798010T>C | CA398558240 | RAI1 | c.5062T>C (p.Cys1688Arg) c.4726T>C (p.Cys1576Arg) | |
| 17 | g.17798010T>G | CA398558241 | RAI1 | c.5062T>G (p.Cys1688Gly) c.4726T>G (p.Cys1576Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798010T= | CA2250696436 | RAI1 | c.5062T= (p.Cys1688=) c.4726T= (p.Cys1576=) | |
| 17 | g.17798011G>A | CA398558243 | RAI1 | c.5063G>A (p.Cys1688Tyr) c.4727G>A (p.Cys1576Tyr) | |
| 17 | g.17798011G>C | CA398558244 | RAI1 | c.5063G>C (p.Cys1688Ser) c.4727G>C (p.Cys1576Ser) | |
| 17 | g.17798011G>T | CA398558242 | RAI1 | c.5063G>T (p.Cys1688Phe) c.4727G>T (p.Cys1576Phe) | |
| 17 | g.17798012C>A | CA398558245 | RAI1 | c.5064C>A (p.Cys1688Ter) c.4728C>A (p.Cys1576Ter) | |
| 17 | g.17798012C>G | CA398558246 | RAI1 | c.5064C>G (p.Cys1688Trp) c.4728C>G (p.Cys1576Trp) | |
| 17 | g.17798012C>T | CA498425499 | RAI1 | c.5064C>T (p.Cys1688=) c.4728C>T (p.Cys1576=) | ClinVar dbSNP |
| 17 | g.17798013C>A | CA398558247 | RAI1 | c.5065C>A (p.Leu1689Ile) c.4729C>A (p.Leu1577Ile) | |
| 17 | g.17798013C>G | CA398558248 | RAI1 | c.5065C>G (p.Leu1689Val) c.4729C>G (p.Leu1577Val) | |
| 17 | g.17798013C>T | CA398558249 | RAI1 | c.5065C>T (p.Leu1689Phe) c.4729C>T (p.Leu1577Phe) | |
| 17 | g.17798014T>A | CA398558252 | RAI1 | c.5066T>A (p.Leu1689His) c.4730T>A (p.Leu1577His) | |
| 17 | g.17798014T>C | CA398558250 | RAI1 | c.5066T>C (p.Leu1689Pro) c.4730T>C (p.Leu1577Pro) | |
| 17 | g.17798014T>G | CA398558251 | RAI1 | c.5066T>G (p.Leu1689Arg) c.4730T>G (p.Leu1577Arg) | |
| 17 | g.17798015C>A | CA498425501 | RAI1 | c.5067C>A (p.Leu1689=) c.4731C>A (p.Leu1577=) | |
| 17 | g.17798015C>G | CA498425502 | RAI1 | c.5067C>G (p.Leu1689=) c.4731C>G (p.Leu1577=) | |
| 17 | g.17798015C>T | CA498425503 | RAI1 | c.5067C>T (p.Leu1689=) c.4731C>T (p.Leu1577=) | |
| 17 | g.17798016T>A | CA398558253 | RAI1 | c.5068T>A (p.Cys1690Ser) c.4732T>A (p.Cys1578Ser) | |
| 17 | g.17798016T>C | CA398558254 | RAI1 | c.5068T>C (p.Cys1690Arg) c.4732T>C (p.Cys1578Arg) | |
| 17 | g.17798016T>G | CA398558255 | RAI1 | c.5068T>G (p.Cys1690Gly) c.4732T>G (p.Cys1578Gly) | |
| 17 | g.17798017G>A | CA398558256 | RAI1 | c.5069G>A (p.Cys1690Tyr) c.4733G>A (p.Cys1578Tyr) | ClinVar dbSNP |
| 17 | g.17798017G>C | CA398558257 | RAI1 | c.5069G>C (p.Cys1690Ser) c.4733G>C (p.Cys1578Ser) | |
| 17 | g.17798017G= | CA2250696444 | RAI1 | c.5069G= (p.Cys1690=) c.4733G= (p.Cys1578=) | |
| 17 | g.17798017G>T | CA398558258 | RAI1 | c.5069G>T (p.Cys1690Phe) c.4733G>T (p.Cys1578Phe) | |
| 17 | g.17798018C>A | CA398558259 | RAI1 | c.5070C>A (p.Cys1690Ter) c.4734C>A (p.Cys1578Ter) | |
| 17 | g.17798018C= | CA2250696453 | RAI1 | c.5070C= (p.Cys1690=) c.4734C= (p.Cys1578=) | |
| 17 | g.17798018C>G | CA398558260 | RAI1 | c.5070C>G (p.Cys1690Trp) c.4734C>G (p.Cys1578Trp) | |
| 17 | g.17798018C>T | CA8419088 | RAI1 | c.5070C>T (p.Cys1690=) c.4734C>T (p.Cys1578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798019C>A | CA398558263 | RAI1 | c.5071C>A (p.Gln1691Lys) c.4735C>A (p.Gln1579Lys) | COSMIC |
| 17 | g.17798019C>G | CA398558261 | RAI1 | c.5071C>G (p.Gln1691Glu) c.4735C>G (p.Gln1579Glu) | |
| 17 | g.17798019C>T | CA398558262 | RAI1 | c.5071C>T (p.Gln1691Ter) c.4735C>T (p.Gln1579Ter) | |
| 17 | g.17798020A= | CA2250696455 | RAI1 | c.5072A= (p.Gln1691=) c.4736A= (p.Gln1579=) | |
| 17 | g.17798020A>C | CA398558264 | RAI1 | c.5072A>C (p.Gln1691Pro) c.4736A>C (p.Gln1579Pro) | |
| 17 | g.17798020A>G | CA398558265 | RAI1 | c.5072A>G (p.Gln1691Arg) c.4736A>G (p.Gln1579Arg) | dbSNP |
| 17 | g.17798020A>T | CA398558266 | RAI1 | c.5072A>T (p.Gln1691Leu) c.4736A>T (p.Gln1579Leu) | |
| 17 | g.17798021A>C | CA398558267 | RAI1 | c.5073A>C (p.Gln1691His) c.4737A>C (p.Gln1579His) | |
| 17 | g.17798021A>G | CA498425511 | RAI1 | c.5073A>G (p.Gln1691=) c.4737A>G (p.Gln1579=) | |
| 17 | g.17798021A>T | CA398558268 | RAI1 | c.5073A>T (p.Gln1691His) c.4737A>T (p.Gln1579His) | gnomAD v4 |
| 17 | g.17798022A>C | CA398558271 | RAI1 | c.5074A>C (p.Asn1692His) c.4738A>C (p.Asn1580His) | |
| 17 | g.17798022A>G | CA398558269 | RAI1 | c.5074A>G (p.Asn1692Asp) c.4738A>G (p.Asn1580Asp) | |
| 17 | g.17798022A>T | CA398558270 | RAI1 | c.5074A>T (p.Asn1692Tyr) c.4738A>T (p.Asn1580Tyr) | |
| 17 | g.17798023A>C | CA398558272 | RAI1 | c.5075A>C (p.Asn1692Thr) c.4739A>C (p.Asn1580Thr) | |
| 17 | g.17798023A>G | CA398558273 | RAI1 | c.5075A>G (p.Asn1692Ser) c.4739A>G (p.Asn1580Ser) | gnomAD v4 |
| 17 | g.17798023A>T | CA398558274 | RAI1 | c.5075A>T (p.Asn1692Ile) c.4739A>T (p.Asn1580Ile) | |
| 17 | g.17798024C>A | CA398558275 | RAI1 | c.5076C>A (p.Asn1692Lys) c.4740C>A (p.Asn1580Lys) | |
| 17 | g.17798024C= | CA2250696457 | RAI1 | c.5076C= (p.Asn1692=) c.4740C= (p.Asn1580=) | |
| 17 | g.17798024C>G | CA398558276 | RAI1 | c.5076C>G (p.Asn1692Lys) c.4740C>G (p.Asn1580Lys) | |
| 17 | g.17798024C>T | CA498425513 | RAI1 | c.5076C>T (p.Asn1692=) c.4740C>T (p.Asn1580=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798025C>A | CA398558277 | RAI1 | c.5077C>A (p.Pro1693Thr) c.4741C>A (p.Pro1581Thr) | |
| 17 | g.17798025C>G | CA398558279 | RAI1 | c.5077C>G (p.Pro1693Ala) c.4741C>G (p.Pro1581Ala) | gnomAD v4 |
| 17 | g.17798025C>T | CA398558278 | RAI1 | c.5077C>T (p.Pro1693Ser) c.4741C>T (p.Pro1581Ser) | |
| 17 | g.17798026C>A | CA398558280 | RAI1 | c.5078C>A (p.Pro1693Gln) c.4742C>A (p.Pro1581Gln) | |
| 17 | g.17798026C= | CA2250696462 | RAI1 | c.5078C= (p.Pro1693=) c.4742C= (p.Pro1581=) | |
| 17 | g.17798026C>G | CA398558281 | RAI1 | c.5078C>G (p.Pro1693Arg) c.4742C>G (p.Pro1581Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798026C>T | CA8419089 | RAI1 | c.5078C>T (p.Pro1693Leu) c.4742C>T (p.Pro1581Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798027G>A | CA8419091 | RAI1 | c.5079G>A (p.Pro1693=) c.4743G>A (p.Pro1581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798027G>C | CA8419090 | RAI1 | c.5079G>C (p.Pro1693=) c.4743G>C (p.Pro1581=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798027G= | CA2250696468 | RAI1 | c.5079G= (p.Pro1693=) c.4743G= (p.Pro1581=) | |
| 17 | g.17798027G>T | CA498425518 | RAI1 | c.5079G>T (p.Pro1693=) c.4743G>T (p.Pro1581=) | gnomAD v4 |
| 17 | g.17798028G>A | CA398558282 | RAI1 | c.5080G>A (p.Ala1694Thr) c.4744G>A (p.Ala1582Thr) | |
| 17 | g.17798028G>C | CA398558283 | RAI1 | c.5080G>C (p.Ala1694Pro) c.4744G>C (p.Ala1582Pro) | |
| 17 | g.17798028G>T | CA398558284 | RAI1 | c.5080G>T (p.Ala1694Ser) c.4744G>T (p.Ala1582Ser) | |
| 17 | g.17798029C>A | CA398558285 | RAI1 | c.5081C>A (p.Ala1694Asp) c.4745C>A (p.Ala1582Asp) | |
| 17 | g.17798029C>G | CA398558286 | RAI1 | c.5081C>G (p.Ala1694Gly) c.4745C>G (p.Ala1582Gly) | |
| 17 | g.17798029C>T | CA398558287 | RAI1 | c.5081C>T (p.Ala1694Val) c.4745C>T (p.Ala1582Val) | COSMIC |
| 17 | g.17798030C>A | CA498425519 | RAI1 | c.5082C>A (p.Ala1694=) c.4746C>A (p.Ala1582=) | |
| 17 | g.17798030C>G | CA498425520 | RAI1 | c.5082C>G (p.Ala1694=) c.4746C>G (p.Ala1582=) | ClinVar gnomAD v4 |
| 17 | g.17798030C>T | CA498425521 | RAI1 | c.5082C>T (p.Ala1694=) c.4746C>T (p.Ala1582=) | |
| 17 | g.17798031A>C | CA398558288 | RAI1 | c.5083A>C (p.Asn1695His) c.4747A>C (p.Asn1583His) | |
| 17 | g.17798031A>G | CA398558290 | RAI1 | c.5083A>G (p.Asn1695Asp) c.4747A>G (p.Asn1583Asp) | |
| 17 | g.17798031A>T | CA398558289 | RAI1 | c.5083A>T (p.Asn1695Tyr) c.4747A>T (p.Asn1583Tyr) | |
| 17 | g.17798032A>C | CA398558291 | RAI1 | c.5084A>C (p.Asn1695Thr) c.4748A>C (p.Asn1583Thr) | |
| 17 | g.17798032A>G | CA398558292 | RAI1 | c.5084A>G (p.Asn1695Ser) c.4748A>G (p.Asn1583Ser) | |
| 17 | g.17798032A>T | CA398558293 | RAI1 | c.5084A>T (p.Asn1695Ile) c.4748A>T (p.Asn1583Ile) | |
| 17 | g.17798033C>A | CA398558294 | RAI1 | c.5085C>A (p.Asn1695Lys) c.4749C>A (p.Asn1583Lys) | |
| 17 | g.17798033C>G | CA398558295 | RAI1 | c.5085C>G (p.Asn1695Lys) c.4749C>G (p.Asn1583Lys) | |
| 17 | g.17798033C>T | CA498425524 | RAI1 | c.5085C>T (p.Asn1695=) c.4749C>T (p.Asn1583=) | |
| 17 | g.17798034T>A | CA398558296 | RAI1 | c.5086T>A (p.Phe1696Ile) c.4750T>A (p.Phe1584Ile) | gnomAD v4 |
| 17 | g.17798034T>C | CA398558297 | RAI1 | c.5086T>C (p.Phe1696Leu) c.4750T>C (p.Phe1584Leu) | |
| 17 | g.17798034T>G | CA398558298 | RAI1 | c.5086T>G (p.Phe1696Val) c.4750T>G (p.Phe1584Val) | |
| 17 | g.17798035T>A | CA398558299 | RAI1 | c.5087T>A (p.Phe1696Tyr) c.4751T>A (p.Phe1584Tyr) | |
| 17 | g.17798035T>C | CA398558300 | RAI1 | c.5087T>C (p.Phe1696Ser) c.4751T>C (p.Phe1584Ser) | dbSNP gnomAD v4 |
| 17 | g.17798035T>G | CA398558301 | RAI1 | c.5087T>G (p.Phe1696Cys) c.4751T>G (p.Phe1584Cys) | |
| 17 | g.17798035T= | CA2250696481 | RAI1 | c.5087T= (p.Phe1696=) c.4751T= (p.Phe1584=) | |
| 17 | g.17798036C>A | CA398558302 | RAI1 | c.5088C>A (p.Phe1696Leu) c.4752C>A (p.Phe1584Leu) | gnomAD v4 |
| 17 | g.17798036C= | CA2250696484 | RAI1 | c.5088C= (p.Phe1696=) c.4752C= (p.Phe1584=) | |
| 17 | g.17798036C>G | CA398558303 | RAI1 | c.5088C>G (p.Phe1696Leu) c.4752C>G (p.Phe1584Leu) | |
| 17 | g.17798036C>T | CA498425529 | RAI1 | c.5088C>T (p.Phe1696=) c.4752C>T (p.Phe1584=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798037A>C | CA398558304 | RAI1 | c.5089A>C (p.Lys1697Gln) c.4753A>C (p.Lys1585Gln) | |
| 17 | g.17798037A>G | CA398558306 | RAI1 | c.5089A>G (p.Lys1697Glu) c.4753A>G (p.Lys1585Glu) | |
| 17 | g.17798037A>T | CA398558305 | RAI1 | c.5089A>T (p.Lys1697Ter) c.4753A>T (p.Lys1585Ter) | |
| 17 | g.17798038A= | CA2250696491 | RAI1 | c.5090A= (p.Lys1697=) c.4754A= (p.Lys1585=) | |
| 17 | g.17798038A>C | CA398558307 | RAI1 | c.5090A>C (p.Lys1697Thr) c.4754A>C (p.Lys1585Thr) | |
| 17 | g.17798038A>G | CA398558308 | RAI1 | c.5090A>G (p.Lys1697Arg) c.4754A>G (p.Lys1585Arg) | dbSNP |
| 17 | g.17798038A>T | CA398558309 | RAI1 | c.5090A>T (p.Lys1697Met) c.4754A>T (p.Lys1585Met) | |
| 17 | g.17798039G>A | CA498425534 | RAI1 | c.5091G>A (p.Lys1697=) c.4755G>A (p.Lys1585=) | |
| 17 | g.17798039G>C | CA398558310 | RAI1 | c.5091G>C (p.Lys1697Asn) c.4755G>C (p.Lys1585Asn) | |
| 17 | g.17798039G>T | CA398558311 | RAI1 | c.5091G>T (p.Lys1697Asn) c.4755G>T (p.Lys1585Asn) | |
| 17 | g.17798040G>A | CA398558312 | RAI1 | c.5092G>A (p.Asp1698Asn) c.4756G>A (p.Asp1586Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798040G>C | CA398558313 | RAI1 | c.5092G>C (p.Asp1698His) c.4756G>C (p.Asp1586His) | |
| 17 | g.17798040G= | CA2250696496 | RAI1 | c.5092G= (p.Asp1698=) c.4756G= (p.Asp1586=) | |
| 17 | g.17798040G>T | CA398558315 | RAI1 | c.5092G>T (p.Asp1698Tyr) c.4756G>T (p.Asp1586Tyr) | |
| 17 | g.17798041A>C | CA398558317 | RAI1 | c.5093A>C (p.Asp1698Ala) c.4757A>C (p.Asp1586Ala) | |
| 17 | g.17798041A>G | CA398558318 | RAI1 | c.5093A>G (p.Asp1698Gly) c.4757A>G (p.Asp1586Gly) | |
| 17 | g.17798041A>T | CA398558319 | RAI1 | c.5093A>T (p.Asp1698Val) c.4757A>T (p.Asp1586Val) | |
| 17 | g.17798042C>A | CA398558321 | RAI1 | c.5094C>A (p.Asp1698Glu) c.4758C>A (p.Asp1586Glu) | gnomAD v4 |
| 17 | g.17798042C>G | CA398558320 | RAI1 | c.5094C>G (p.Asp1698Glu) c.4758C>G (p.Asp1586Glu) | |
| 17 | g.17798042C>T | CA498425538 | RAI1 | c.5094C>T (p.Asp1698=) c.4758C>T (p.Asp1586=) | gnomAD v4 |
| 17 | g.17798043C>A | CA398558322 | RAI1 | c.5095C>A (p.Leu1699Ile) c.4759C>A (p.Leu1587Ile) | |
| 17 | g.17798043C= | CA2250696499 | RAI1 | c.5095C= (p.Leu1699=) c.4759C= (p.Leu1587=) | |
| 17 | g.17798043C>G | CA398558324 | RAI1 | c.5095C>G (p.Leu1699Val) c.4759C>G (p.Leu1587Val) | |
| 17 | g.17798043C>T | CA398558323 | RAI1 | c.5095C>T (p.Leu1699Phe) c.4759C>T (p.Leu1587Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |