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 |
|---|---|---|---|---|---|
| 14 | g.64772780G>A | CA390041104 | SPTB | c.5353C>T (p.Leu1785Phe) c.1348C>T (p.Leu450Phe) | dbSNP |
| 14 | g.64772780G>C | CA390041105 | SPTB | c.5353C>G (p.Leu1785Val) c.1348C>G (p.Leu450Val) | |
| 14 | g.64772780G= | CA2142804055 | SPTB | c.5353C= (p.Leu1785=) c.1348C= (p.Leu450=) | |
| 14 | g.64772780G>T | CA390041106 | SPTB | c.5353C>A (p.Leu1785Ile) c.1348C>A (p.Leu450Ile) | |
| 14 | g.64772781C>A | CA390041107 | SPTB | c.5352G>T (p.Glu1784Asp) c.1347G>T (p.Glu449Asp) | |
| 14 | g.64772781C= | CA2142804060 | SPTB | c.5352G= (p.Glu1784=) c.1347G= (p.Glu449=) | |
| 14 | g.64772781C>G | CA390041108 | SPTB | c.5352G>C (p.Glu1784Asp) c.1347G>C (p.Glu449Asp) | |
| 14 | g.64772781C>T | CA486967828 | SPTB | c.5352G>A (p.Glu1784=) c.1347G>A (p.Glu449=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772782T>A | CA390041109 | SPTB | c.5351A>T (p.Glu1784Val) c.1346A>T (p.Glu449Val) | |
| 14 | g.64772782T>C | CA390041110 | SPTB | c.5351A>G (p.Glu1784Gly) c.1346A>G (p.Glu449Gly) | |
| 14 | g.64772782T>G | CA390041111 | SPTB | c.5351A>C (p.Glu1784Ala) c.1346A>C (p.Glu449Ala) | |
| 14 | g.64772783C>A | CA390041114 | SPTB | c.5350G>T (p.Glu1784Ter) c.1345G>T (p.Glu449Ter) | |
| 14 | g.64772783C>G | CA390041113 | SPTB | c.5350G>C (p.Glu1784Gln) c.1345G>C (p.Glu449Gln) | |
| 14 | g.64772783C>T | CA390041112 | SPTB | c.5350G>A (p.Glu1784Lys) c.1345G>A (p.Glu449Lys) | ClinVar |
| 14 | g.64772784C>A | CA486967832 | SPTB | c.5349G>T (p.Leu1783=) c.1344G>T (p.Leu448=) | |
| 14 | g.64772784C= | CA2142804063 | SPTB | c.5349G= (p.Leu1783=) c.1344G= (p.Leu448=) | |
| 14 | g.64772784C>G | CA486967833 | SPTB | c.5349G>C (p.Leu1783=) c.1344G>C (p.Leu448=) | |
| 14 | g.64772784C>T | CA7229991 | SPTB | c.5349G>A (p.Leu1783=) c.1344G>A (p.Leu448=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772785A>C | CA390041115 | SPTB | c.5348T>G (p.Leu1783Arg) c.1343T>G (p.Leu448Arg) | |
| 14 | g.64772785A>G | CA390041116 | SPTB | c.5348T>C (p.Leu1783Pro) c.1343T>C (p.Leu448Pro) | |
| 14 | g.64772785A>T | CA390041117 | SPTB | c.5348T>A (p.Leu1783Gln) c.1343T>A (p.Leu448Gln) | |
| 14 | g.64772788_64772790del | CA2801900515 | SPTB | c.5346_5348del (p.Leu1783del) c.1341_1343del (p.Leu448del) | |
| 14 | g.64772786G>A | CA7229992 | SPTB | c.5347C>T (p.Leu1783=) c.1342C>T (p.Leu448=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772786G>C | CA390041118 | SPTB | c.5347C>G (p.Leu1783Val) c.1342C>G (p.Leu448Val) | |
| 14 | g.64772786G= | CA2142804068 | SPTB | c.5347C= (p.Leu1783=) c.1342C= (p.Leu448=) | |
| 14 | g.64772786G>T | CA390041119 | SPTB | c.5347C>A (p.Leu1783Met) c.1342C>A (p.Leu448Met) | |
| 14 | g.64772787G>A | CA486967837 | SPTB | c.5346C>T (p.Leu1782=) c.1341C>T (p.Leu447=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772787G>C | CA486967838 | SPTB | c.5346C>G (p.Leu1782=) c.1341C>G (p.Leu447=) | |
| 14 | g.64772787G= | CA2142804074 | SPTB | c.5346C= (p.Leu1782=) c.1341C= (p.Leu447=) | |
| 14 | g.64772787G>T | CA486967839 | SPTB | c.5346C>A (p.Leu1782=) c.1341C>A (p.Leu447=) | |
| 14 | g.64772788A>C | CA390041122 | SPTB | c.5345T>G (p.Leu1782Arg) c.1340T>G (p.Leu447Arg) | |
| 14 | g.64772788A>G | CA390041120 | SPTB | c.5345T>C (p.Leu1782Pro) c.1340T>C (p.Leu447Pro) | |
| 14 | g.64772788A>T | CA390041121 | SPTB | c.5345T>A (p.Leu1782His) c.1340T>A (p.Leu447His) | |
| 14 | g.64772789G>A | CA390041123 | SPTB | c.5344C>T (p.Leu1782Phe) c.1339C>T (p.Leu447Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772789G>C | CA390041124 | SPTB | c.5344C>G (p.Leu1782Val) c.1339C>G (p.Leu447Val) | |
| 14 | g.64772789G= | CA2142804078 | SPTB | c.5344C= (p.Leu1782=) c.1339C= (p.Leu447=) | |
| 14 | g.64772789G>T | CA390041125 | SPTB | c.5344C>A (p.Leu1782Ile) c.1339C>A (p.Leu447Ile) | |
| 14 | g.64772790G>A | CA486967843 | SPTB | c.5343C>T (p.Asp1781=) c.1338C>T (p.Asp446=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772790G>C | CA390041126 | SPTB | c.5343C>G (p.Asp1781Glu) c.1338C>G (p.Asp446Glu) | |
| 14 | g.64772790G>T | CA390041127 | SPTB | c.5343C>A (p.Asp1781Glu) c.1338C>A (p.Asp446Glu) | |
| 14 | g.64772791T>A | CA390041128 | SPTB | c.5342A>T (p.Asp1781Val) c.1337A>T (p.Asp446Val) | |
| 14 | g.64772791T>C | CA390041130 | SPTB | c.5342A>G (p.Asp1781Gly) c.1337A>G (p.Asp446Gly) | |
| 14 | g.64772791T>G | CA390041129 | SPTB | c.5342A>C (p.Asp1781Ala) c.1337A>C (p.Asp446Ala) | |
| 14 | g.64772792C>A | CA390041131 | SPTB | c.5341G>T (p.Asp1781Tyr) c.1336G>T (p.Asp446Tyr) | |
| 14 | g.64772792C>G | CA390041132 | SPTB | c.5341G>C (p.Asp1781His) c.1336G>C (p.Asp446His) | |
| 14 | g.64772792C>T | CA390041133 | SPTB | c.5341G>A (p.Asp1781Asn) c.1336G>A (p.Asp446Asn) | |
| 14 | g.64772793T>A | CA486967848 | SPTB | c.5340A>T (p.Ala1780=) c.1335A>T (p.Ala445=) | |
| 14 | g.64772793T>C | CA486967849 | SPTB | c.5340A>G (p.Ala1780=) c.1335A>G (p.Ala445=) | gnomAD v4 |
| 14 | g.64772793T>G | CA486967850 | SPTB | c.5340A>C (p.Ala1780=) c.1335A>C (p.Ala445=) | gnomAD v4 |
| 14 | g.64772794G>A | CA390041134 | SPTB | c.5339C>T (p.Ala1780Val) c.1334C>T (p.Ala445Val) | |
| 14 | g.64772794G>C | CA390041135 | SPTB | c.5339C>G (p.Ala1780Gly) c.1334C>G (p.Ala445Gly) | |
| 14 | g.64772794G>T | CA390041136 | SPTB | c.5339C>A (p.Ala1780Glu) c.1334C>A (p.Ala445Glu) | gnomAD v4 |
| 14 | g.64772795C>A | CA390041137 | SPTB | c.5338G>T (p.Ala1780Ser) c.1333G>T (p.Ala445Ser) | |
| 14 | g.64772795C>G | CA390041138 | SPTB | c.5338G>C (p.Ala1780Pro) c.1333G>C (p.Ala445Pro) | |
| 14 | g.64772795C>T | CA390041139 | SPTB | c.5338G>A (p.Ala1780Thr) c.1333G>A (p.Ala445Thr) | |
| 14 | g.64772796C>A | CA390041140 | SPTB | c.5337G>T (p.Trp1779Cys) c.1332G>T (p.Trp444Cys) | gnomAD v4 |
| 14 | g.64772796C>G | CA390041141 | SPTB | c.5337G>C (p.Trp1779Cys) c.1332G>C (p.Trp444Cys) | |
| 14 | g.64772796C>T | CA390041142 | SPTB | c.5337G>A (p.Trp1779Ter) c.1332G>A (p.Trp444Ter) | ClinVar |
| 14 | g.64772797C>A | CA390041143 | SPTB | c.5336G>T (p.Trp1779Leu) c.1331G>T (p.Trp444Leu) | |
| 14 | g.64772797C>G | CA390041145 | SPTB | c.5336G>C (p.Trp1779Ser) c.1331G>C (p.Trp444Ser) | |
| 14 | g.64772797C>T | CA390041144 | SPTB | c.5336G>A (p.Trp1779Ter) c.1331G>A (p.Trp444Ter) | |
| 14 | g.64772798A>C | CA390041146 | SPTB | c.5335T>G (p.Trp1779Gly) c.1330T>G (p.Trp444Gly) | |
| 14 | g.64772798A>G | CA390041147 | SPTB | c.5335T>C (p.Trp1779Arg) c.1330T>C (p.Trp444Arg) | gnomAD v4 |
| 14 | g.64772798A>T | CA390041148 | SPTB | c.5335T>A (p.Trp1779Arg) c.1330T>A (p.Trp444Arg) | |
| 14 | g.64772799C>A | CA390041149 | SPTB | c.5334G>T (p.Met1778Ile) c.1329G>T (p.Met443Ile) | |
| 14 | g.64772799C= | CA2142804084 | SPTB | c.5334G= (p.Met1778=) c.1329G= (p.Met443=) | |
| 14 | g.64772799C>G | CA390041150 | SPTB | c.5334G>C (p.Met1778Ile) c.1329G>C (p.Met443Ile) | |
| 14 | g.64772799C>T | CA390041151 | SPTB | c.5334G>A (p.Met1778Ile) c.1329G>A (p.Met443Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772800A>C | CA390041152 | SPTB | c.5333T>G (p.Met1778Arg) c.1328T>G (p.Met443Arg) | |
| 14 | g.64772800A>G | CA390041153 | SPTB | c.5333T>C (p.Met1778Thr) c.1328T>C (p.Met443Thr) | |
| 14 | g.64772800A>T | CA390041154 | SPTB | c.5333T>A (p.Met1778Lys) c.1328T>A (p.Met443Lys) | gnomAD v4 |
| 14 | g.64772801T>A | CA390041155 | SPTB | c.5332A>T (p.Met1778Leu) c.1327A>T (p.Met443Leu) | |
| 14 | g.64772801T>C | CA390041156 | SPTB | c.5332A>G (p.Met1778Val) c.1327A>G (p.Met443Val) | |
| 14 | g.64772801T>G | CA390041157 | SPTB | c.5332A>C (p.Met1778Leu) c.1327A>C (p.Met443Leu) | |
| 14 | g.64772802C>A | CA390041159 | SPTB | c.5331G>T (p.Glu1777Asp) c.1326G>T (p.Glu442Asp) | |
| 14 | g.64772802C>G | CA390041158 | SPTB | c.5331G>C (p.Glu1777Asp) c.1326G>C (p.Glu442Asp) | |
| 14 | g.64772802C>T | CA486967861 | SPTB | c.5331G>A (p.Glu1777=) c.1326G>A (p.Glu442=) | |
| 14 | g.64772803T>A | CA390041160 | SPTB | c.5330A>T (p.Glu1777Val) c.1325A>T (p.Glu442Val) | |
| 14 | g.64772803T>C | CA390041161 | SPTB | c.5330A>G (p.Glu1777Gly) c.1325A>G (p.Glu442Gly) | |
| 14 | g.64772803T>G | CA390041162 | SPTB | c.5330A>C (p.Glu1777Ala) c.1325A>C (p.Glu442Ala) | ClinVar |
| 14 | g.64772804C>A | CA390041163 | SPTB | c.5329G>T (p.Glu1777Ter) c.1324G>T (p.Glu442Ter) | ClinVar dbSNP |
| 14 | g.64772804C= | CA2142804089 | SPTB | c.5329G= (p.Glu1777=) c.1324G= (p.Glu442=) | |
| 14 | g.64772804C>G | CA390041164 | SPTB | c.5329G>C (p.Glu1777Gln) c.1324G>C (p.Glu442Gln) | |
| 14 | g.64772804C>T | CA7229993 | SPTB | c.5329G>A (p.Glu1777Lys) c.1324G>A (p.Glu442Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772805G>A | CA7229994 | SPTB | c.5328C>T (p.Asn1776=) c.1323C>T (p.Asn441=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772805G>C | CA390041165 | SPTB | c.5328C>G (p.Asn1776Lys) c.1323C>G (p.Asn441Lys) | gnomAD v4 |
| 14 | g.64772805G= | CA2142804097 | SPTB | c.5328C= (p.Asn1776=) c.1323C= (p.Asn441=) | |
| 14 | g.64772805G>T | CA390041166 | SPTB | c.5328C>A (p.Asn1776Lys) c.1323C>A (p.Asn441Lys) | |
| 14 | g.64772806T>A | CA390041167 | SPTB | c.5327A>T (p.Asn1776Ile) c.1322A>T (p.Asn441Ile) | |
| 14 | g.64772806T>C | CA390041168 | SPTB | c.5327A>G (p.Asn1776Ser) c.1322A>G (p.Asn441Ser) | gnomAD v4 |
| 14 | g.64772806T>G | CA390041169 | SPTB | c.5327A>C (p.Asn1776Thr) c.1322A>C (p.Asn441Thr) | |
| 14 | g.64772807T>A | CA7229995 | SPTB | c.5326A>T (p.Asn1776Tyr) c.1321A>T (p.Asn441Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772807T>C | CA390041171 | SPTB | c.5326A>G (p.Asn1776Asp) c.1321A>G (p.Asn441Asp) | |
| 14 | g.64772807T>G | CA390041170 | SPTB | c.5326A>C (p.Asn1776His) c.1321A>C (p.Asn441His) | |
| 14 | g.64772807T= | CA2142804113 | SPTB | c.5326A= (p.Asn1776=) c.1321A= (p.Asn441=) | |
| 14 | g.64772808C>A | CA486967874 | SPTB | c.5325G>T (p.Leu1775=) c.1320G>T (p.Leu440=) | |
| 14 | g.64772808C>G | CA486967878 | SPTB | c.5325G>C (p.Leu1775=) c.1320G>C (p.Leu440=) | |
| 14 | g.64772808C>T | CA486967888 | SPTB | c.5325G>A (p.Leu1775=) c.1320G>A (p.Leu440=) | |
| 14 | g.64772809A>C | CA390041172 | SPTB | c.5324T>G (p.Leu1775Arg) c.1319T>G (p.Leu440Arg) | |
| 14 | g.64772809A>G | CA390041174 | SPTB | c.5324T>C (p.Leu1775Pro) c.1319T>C (p.Leu440Pro) | |
| 14 | g.64772809A>T | CA390041173 | SPTB | c.5324T>A (p.Leu1775Gln) c.1319T>A (p.Leu440Gln) | |
| 14 | g.64772810G>A | CA486967890 | SPTB | c.5323C>T (p.Leu1775=) c.1318C>T (p.Leu440=) | |
| 14 | g.64772810G>C | CA390041175 | SPTB | c.5323C>G (p.Leu1775Val) c.1318C>G (p.Leu440Val) | |
| 14 | g.64772810G>T | CA390041176 | SPTB | c.5323C>A (p.Leu1775Met) c.1318C>A (p.Leu440Met) | |
| 14 | g.64772811C>A | CA486967893 | SPTB | c.5322G>T (p.Gly1774=) c.1317G>T (p.Gly439=) | dbSNP |
| 14 | g.64772811C= | CA2142804119 | SPTB | c.5322G= (p.Gly1774=) c.1317G= (p.Gly439=) | |
| 14 | g.64772811C>G | CA486967896 | SPTB | c.5322G>C (p.Gly1774=) c.1317G>C (p.Gly439=) | |
| 14 | g.64772811C>T | CA486967897 | SPTB | c.5322G>A (p.Gly1774=) c.1317G>A (p.Gly439=) | |
| 14 | g.64772812C>A | CA390041177 | SPTB | c.5321G>T (p.Gly1774Val) c.1316G>T (p.Gly439Val) | |
| 14 | g.64772812C>G | CA390041179 | SPTB | c.5321G>C (p.Gly1774Ala) c.1316G>C (p.Gly439Ala) | |
| 14 | g.64772812C>T | CA390041178 | SPTB | c.5321G>A (p.Gly1774Glu) c.1316G>A (p.Gly439Glu) | gnomAD v4 |
| 14 | g.64772813C>A | CA390041180 | SPTB | c.5320G>T (p.Gly1774Trp) c.1315G>T (p.Gly439Trp) | COSMIC COSMIC |
| 14 | g.64772813C= | CA2142804122 | SPTB | c.5320G= (p.Gly1774=) c.1315G= (p.Gly439=) | |
| 14 | g.64772813C>G | CA390041181 | SPTB | c.5320G>C (p.Gly1774Arg) c.1315G>C (p.Gly439Arg) | |
| 14 | g.64772813C>T | CA390041182 | SPTB | c.5320G>A (p.Gly1774Arg) c.1315G>A (p.Gly439Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772814G>A | CA7229996 | SPTB | c.5319C>T (p.Asp1773=) c.1314C>T (p.Asp438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772814G>C | CA390041183 | SPTB | c.5319C>G (p.Asp1773Glu) c.1314C>G (p.Asp438Glu) | |
| 14 | g.64772814G= | CA2142804132 | SPTB | c.5319C= (p.Asp1773=) c.1314C= (p.Asp438=) | |
| 14 | g.64772814G>T | CA390041184 | SPTB | c.5319C>A (p.Asp1773Glu) c.1314C>A (p.Asp438Glu) | |
| 14 | g.64772815T>A | CA390041185 | SPTB | c.5318A>T (p.Asp1773Val) c.1313A>T (p.Asp438Val) | |
| 14 | g.64772815T>C | CA390041186 | SPTB | c.5318A>G (p.Asp1773Gly) c.1313A>G (p.Asp438Gly) | |
| 14 | g.64772815T>G | CA390041187 | SPTB | c.5318A>C (p.Asp1773Ala) c.1313A>C (p.Asp438Ala) | |
| 14 | g.64772816C>A | CA390041188 | SPTB | c.5317G>T (p.Asp1773Tyr) c.1312G>T (p.Asp438Tyr) | |
| 14 | g.64772816C>G | CA390041189 | SPTB | c.5317G>C (p.Asp1773His) c.1312G>C (p.Asp438His) | |
| 14 | g.64772816C>T | CA390041190 | SPTB | c.5317G>A (p.Asp1773Asn) c.1312G>A (p.Asp438Asn) | |
| 14 | g.64772817C>A | CA390041191 | SPTB | c.5316G>T (p.Lys1772Asn) c.1311G>T (p.Lys437Asn) | |
| 14 | g.64772817C>G | CA390041192 | SPTB | c.5316G>C (p.Lys1772Asn) c.1311G>C (p.Lys437Asn) | |
| 14 | g.64772817C>T | CA486967915 | SPTB | c.5316G>A (p.Lys1772=) c.1311G>A (p.Lys437=) | gnomAD v4 |
| 14 | g.64772818T>A | CA390041193 | SPTB | c.5315A>T (p.Lys1772Met) c.1310A>T (p.Lys437Met) | |
| 14 | g.64772818T>C | CA390041194 | SPTB | c.5315A>G (p.Lys1772Arg) c.1310A>G (p.Lys437Arg) | |
| 14 | g.64772818T>G | CA390041195 | SPTB | c.5315A>C (p.Lys1772Thr) c.1310A>C (p.Lys437Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772818T= | CA2142804141 | SPTB | c.5315A= (p.Lys1772=) c.1310A= (p.Lys437=) | |
| 14 | g.64772819T>A | CA390041196 | SPTB | c.5314A>T (p.Lys1772Ter) c.1309A>T (p.Lys437Ter) | |
| 14 | g.64772819T>C | CA390041197 | SPTB | c.5314A>G (p.Lys1772Glu) c.1309A>G (p.Lys437Glu) | |
| 14 | g.64772819T>G | CA390041198 | SPTB | c.5314A>C (p.Lys1772Gln) c.1309A>C (p.Lys437Gln) | |
| 14 | g.64772820C>A | CA390041199 | SPTB | c.5313G>T (p.Trp1771Cys) c.1308G>T (p.Trp436Cys) | |
| 14 | g.64772820C>G | CA390041200 | SPTB | c.5313G>C (p.Trp1771Cys) c.1308G>C (p.Trp436Cys) | |
| 14 | g.64772820C>T | CA390041201 | SPTB | c.5313G>A (p.Trp1771Ter) c.1308G>A (p.Trp436Ter) | COSMIC COSMIC |
| 14 | g.64772821C>A | CA390041202 | SPTB | c.5312G>T (p.Trp1771Leu) c.1307G>T (p.Trp436Leu) | gnomAD v4 |
| 14 | g.64772821C>G | CA390041203 | SPTB | c.5312G>C (p.Trp1771Ser) c.1307G>C (p.Trp436Ser) | |
| 14 | g.64772821C>T | CA390041204 | SPTB | c.5312G>A (p.Trp1771Ter) c.1307G>A (p.Trp436Ter) | |
| 14 | g.64772822A= | CA2142804144 | SPTB | c.5311T= (p.Trp1771=) c.1306T= (p.Trp436=) | |
| 14 | g.64772822A>C | CA390041205 | SPTB | c.5311T>G (p.Trp1771Gly) c.1306T>G (p.Trp436Gly) | |
| 14 | g.64772822A>G | CA262689201 | SPTB | c.5311T>C (p.Trp1771Arg) c.1306T>C (p.Trp436Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772822A>T | CA390041206 | SPTB | c.5311T>A (p.Trp1771Arg) c.1306T>A (p.Trp436Arg) | |
| 14 | g.64772823C>A | CA390041207 | SPTB | c.5310G>T (p.Glu1770Asp) c.1305G>T (p.Glu435Asp) | |
| 14 | g.64772823C= | CA2142804147 | SPTB | c.5310G= (p.Glu1770=) c.1305G= (p.Glu435=) | |
| 14 | g.64772823C>G | CA390041208 | SPTB | c.5310G>C (p.Glu1770Asp) c.1305G>C (p.Glu435Asp) | |
| 14 | g.64772823C>T | CA486967937 | SPTB | c.5310G>A (p.Glu1770=) c.1305G>A (p.Glu435=) | dbSNP |
| 14 | g.64772824T>A | CA390041209 | SPTB | c.5309A>T (p.Glu1770Val) c.1304A>T (p.Glu435Val) | |
| 14 | g.64772824T>C | CA390041210 | SPTB | c.5309A>G (p.Glu1770Gly) c.1304A>G (p.Glu435Gly) | |
| 14 | g.64772824T>G | CA390041211 | SPTB | c.5309A>C (p.Glu1770Ala) c.1304A>C (p.Glu435Ala) | |
| 14 | g.64772825C>A | CA390041212 | SPTB | c.5308G>T (p.Glu1770Ter) c.1303G>T (p.Glu435Ter) | |
| 14 | g.64772825C= | CA2142804150 | SPTB | c.5308G= (p.Glu1770=) c.1303G= (p.Glu435=) | |
| 14 | g.64772825C>G | CA390041213 | SPTB | c.5308G>C (p.Glu1770Gln) c.1303G>C (p.Glu435Gln) | |
| 14 | g.64772825C>T | CA7229997 | SPTB | c.5308G>A (p.Glu1770Lys) c.1303G>A (p.Glu435Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772826G>A | CA7229998 | SPTB | c.5307C>T (p.Ala1769=) c.1302C>T (p.Ala434=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.64772826G>C | CA486967954 | SPTB | c.5307C>G (p.Ala1769=) c.1302C>G (p.Ala434=) | gnomAD v4 |
| 14 | g.64772826G= | CA2142804153 | SPTB | c.5307C= (p.Ala1769=) c.1302C= (p.Ala434=) | |
| 14 | g.64772826G>T | CA486967957 | SPTB | c.5307C>A (p.Ala1769=) c.1302C>A (p.Ala434=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772827G>A | CA390041214 | SPTB | c.5306C>T (p.Ala1769Val) c.1301C>T (p.Ala434Val) | |
| 14 | g.64772827G>C | CA390041215 | SPTB | c.5306C>G (p.Ala1769Gly) c.1301C>G (p.Ala434Gly) | |
| 14 | g.64772827G>T | CA390041216 | SPTB | c.5306C>A (p.Ala1769Asp) c.1301C>A (p.Ala434Asp) | |
| 14 | g.64772828C>A | CA390041219 | SPTB | c.5305G>T (p.Ala1769Ser) c.1300G>T (p.Ala434Ser) | |
| 14 | g.64772828C= | CA2142804162 | SPTB | c.5305G= (p.Ala1769=) c.1300G= (p.Ala434=) | |
| 14 | g.64772828C>G | CA390041217 | SPTB | c.5305G>C (p.Ala1769Pro) c.1300G>C (p.Ala434Pro) | gnomAD v4 |
| 14 | g.64772828C>T | CA390041218 | SPTB | c.5305G>A (p.Ala1769Thr) c.1300G>A (p.Ala434Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772829G>A | CA7229999 | SPTB | c.5304C>T (p.Ile1768=) c.1299C>T (p.Ile433=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772829G>C | CA390041220 | SPTB | c.5304C>G (p.Ile1768Met) c.1299C>G (p.Ile433Met) | |
| 14 | g.64772829G= | CA2142804167 | SPTB | c.5304C= (p.Ile1768=) c.1299C= (p.Ile433=) | |
| 14 | g.64772829G>T | CA486967968 | SPTB | c.5304C>A (p.Ile1768=) c.1299C>A (p.Ile433=) | |
| 14 | g.64772830A>C | CA390041221 | SPTB | c.5303T>G (p.Ile1768Ser) c.1298T>G (p.Ile433Ser) | |
| 14 | g.64772830A>G | CA390041222 | SPTB | c.5303T>C (p.Ile1768Thr) c.1298T>C (p.Ile433Thr) | |
| 14 | g.64772830A>T | CA390041223 | SPTB | c.5303T>A (p.Ile1768Asn) c.1298T>A (p.Ile433Asn) | gnomAD v4 |
| 14 | g.64772831T>A | CA390041224 | SPTB | c.5302A>T (p.Ile1768Phe) c.1297A>T (p.Ile433Phe) | |
| 14 | g.64772831T>C | CA390041225 | SPTB | c.5302A>G (p.Ile1768Val) c.1297A>G (p.Ile433Val) | gnomAD v4 |
| 14 | g.64772831T>G | CA390041226 | SPTB | c.5302A>C (p.Ile1768Leu) c.1297A>C (p.Ile433Leu) | |
| 14 | g.64772832G>A | CA486967974 | SPTB | c.5301C>T (p.Thr1767=) c.1296C>T (p.Thr432=) | |
| 14 | g.64772832G>C | CA486967975 | SPTB | c.5301C>G (p.Thr1767=) c.1296C>G (p.Thr432=) | |
| 14 | g.64772832G>T | CA486967976 | SPTB | c.5301C>A (p.Thr1767=) c.1296C>A (p.Thr432=) | |
| 14 | g.64772833G>A | CA390041227 | SPTB | c.5300C>T (p.Thr1767Ile) c.1295C>T (p.Thr432Ile) | |
| 14 | g.64772833G>C | CA390041228 | SPTB | c.5300C>G (p.Thr1767Ser) c.1295C>G (p.Thr432Ser) | |
| 14 | g.64772833G>T | CA390041229 | SPTB | c.5300C>A (p.Thr1767Asn) c.1295C>A (p.Thr432Asn) | gnomAD v4 |
| 14 | g.64772834T>A | CA390041232 | SPTB | c.5299A>T (p.Thr1767Ser) c.1294A>T (p.Thr432Ser) | |
| 14 | g.64772834T>C | CA390041231 | SPTB | c.5299A>G (p.Thr1767Ala) c.1294A>G (p.Thr432Ala) | |
| 14 | g.64772834T>G | CA390041230 | SPTB | c.5299A>C (p.Thr1767Pro) c.1294A>C (p.Thr432Pro) | |
| 14 | g.64772835G>A | CA486967982 | SPTB | c.5298C>T (p.Ala1766=) c.1293C>T (p.Ala431=) | |
| 14 | g.64772835G>C | CA486967983 | SPTB | c.5298C>G (p.Ala1766=) c.1293C>G (p.Ala431=) | |
| 14 | g.64772835G>T | CA486967985 | SPTB | c.5298C>A (p.Ala1766=) c.1293C>A (p.Ala431=) | |
| 14 | g.64772836G>A | CA390041233 | SPTB | c.5297C>T (p.Ala1766Val) c.1292C>T (p.Ala431Val) | |
| 14 | g.64772836G>C | CA390041235 | SPTB | c.5297C>G (p.Ala1766Gly) c.1292C>G (p.Ala431Gly) | |
| 14 | g.64772836G>T | CA390041234 | SPTB | c.5297C>A (p.Ala1766Asp) c.1292C>A (p.Ala431Asp) | |
| 14 | g.64772838_64772868del | CA2697553946 | SPTB | c.5267_5297del (p.Arg1756ProfsTer10) c.1262_1292del (p.Arg421ProfsTer10) | ClinVar |
| 14 | g.64772837C>A | CA390041236 | SPTB | c.5296G>T (p.Ala1766Ser) c.1291G>T (p.Ala431Ser) | |
| 14 | g.64772837C>G | CA390041237 | SPTB | c.5296G>C (p.Ala1766Pro) c.1291G>C (p.Ala431Pro) | |
| 14 | g.64772837C>T | CA390041238 | SPTB | c.5296G>A (p.Ala1766Thr) c.1291G>A (p.Ala431Thr) | |
| 14 | g.64772838C>A | CA262689250 | SPTB | c.5295G>T (p.Ala1765=) c.1290G>T (p.Ala430=) | dbSNP gnomAD v4 |
| 14 | g.64772838C= | CA2142804172 | SPTB | c.5295G= (p.Ala1765=) c.1290G= (p.Ala430=) | |
| 14 | g.64772838C>G | CA486967991 | SPTB | c.5295G>C (p.Ala1765=) c.1290G>C (p.Ala430=) | |
| 14 | g.64772838C>T | CA7230000 | SPTB | c.5295G>A (p.Ala1765=) c.1290G>A (p.Ala430=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772839G>A | CA7230001 | SPTB | c.5294C>T (p.Ala1765Val) c.1289C>T (p.Ala430Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772839G>C | CA390041239 | SPTB | c.5294C>G (p.Ala1765Gly) c.1289C>G (p.Ala430Gly) | |
| 14 | g.64772839G= | CA1630856073 | SPTB | c.5294C= (p.Ala1765=) c.1289C= (p.Ala430=) | |
| 14 | g.64772839G>T | CA390041240 | SPTB | c.5294C>A (p.Ala1765Glu) c.1289C>A (p.Ala430Glu) | gnomAD v4 |
| 14 | g.64772840C>A | CA390041241 | SPTB | c.5293G>T (p.Ala1765Ser) c.1288G>T (p.Ala430Ser) | |
| 14 | g.64772840C>G | CA390041242 | SPTB | c.5293G>C (p.Ala1765Pro) c.1288G>C (p.Ala430Pro) | |
| 14 | g.64772840C>T | CA390041243 | SPTB | c.5293G>A (p.Ala1765Thr) c.1288G>A (p.Ala430Thr) | |
| 14 | g.64772841C>A | CA390041244 | SPTB | c.5292G>T (p.Glu1764Asp) c.1287G>T (p.Glu429Asp) | |
| 14 | g.64772841C>G | CA390041245 | SPTB | c.5292G>C (p.Glu1764Asp) c.1287G>C (p.Glu429Asp) | |
| 14 | g.64772841C>T | CA486967998 | SPTB | c.5292G>A (p.Glu1764=) c.1287G>A (p.Glu429=) | gnomAD v4 |
| 14 | g.64772842T>A | CA390041248 | SPTB | c.5291A>T (p.Glu1764Val) c.1286A>T (p.Glu429Val) | dbSNP |
| 14 | g.64772842T>C | CA390041246 | SPTB | c.5291A>G (p.Glu1764Gly) c.1286A>G (p.Glu429Gly) | gnomAD v4 |
| 14 | g.64772842T>G | CA390041247 | SPTB | c.5291A>C (p.Glu1764Ala) c.1286A>C (p.Glu429Ala) | |
| 14 | g.64772842T= | CA2142804185 | SPTB | c.5291A= (p.Glu1764=) c.1286A= (p.Glu429=) | |
| 14 | g.64772843C>A | CA390041249 | SPTB | c.5290G>T (p.Glu1764Ter) c.1285G>T (p.Glu429Ter) | ClinVar |
| 14 | g.64772843C= | CA2142804190 | SPTB | c.5290G= (p.Glu1764=) c.1285G= (p.Glu429=) | |
| 14 | g.64772843C>G | CA390041250 | SPTB | c.5290G>C (p.Glu1764Gln) c.1285G>C (p.Glu429Gln) | gnomAD v4 |
| 14 | g.64772843C>T | CA390041251 | SPTB | c.5290G>A (p.Glu1764Lys) c.1285G>A (p.Glu429Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772844G>A | CA7230002 | SPTB | c.5289C>T (p.Ser1763=) c.1284C>T (p.Ser428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772844G>C | CA390041252 | SPTB | c.5289C>G (p.Ser1763Arg) c.1284C>G (p.Ser428Arg) | |
| 14 | g.64772844G= | CA2142804197 | SPTB | c.5289C= (p.Ser1763=) c.1284C= (p.Ser428=) | |
| 14 | g.64772844G>T | CA390041253 | SPTB | c.5289C>A (p.Ser1763Arg) c.1284C>A (p.Ser428Arg) | dbSNP gnomAD v4 |
| 14 | g.64772845C>A | CA390041254 | SPTB | c.5288G>T (p.Ser1763Ile) c.1283G>T (p.Ser428Ile) | |
| 14 | g.64772845C>G | CA390041255 | SPTB | c.5288G>C (p.Ser1763Thr) c.1283G>C (p.Ser428Thr) | |
| 14 | g.64772845C>T | CA390041256 | SPTB | c.5288G>A (p.Ser1763Asn) c.1283G>A (p.Ser428Asn) | |
| 14 | g.64772846T>A | CA390041257 | SPTB | c.5287A>T (p.Ser1763Cys) c.1282A>T (p.Ser428Cys) | |
| 14 | g.64772846T>C | CA7230003 | SPTB | c.5287A>G (p.Ser1763Gly) c.1282A>G (p.Ser428Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772846T>G | CA390041258 | SPTB | c.5287A>C (p.Ser1763Arg) c.1282A>C (p.Ser428Arg) | |
| 14 | g.64772846T= | CA2142804201 | SPTB | c.5287A= (p.Ser1763=) c.1282A= (p.Ser428=) | |
| 14 | g.64772847G>A | CA486968018 | SPTB | c.5286C>T (p.His1762=) c.1281C>T (p.His427=) | gnomAD v4 |
| 14 | g.64772847G>C | CA390041259 | SPTB | c.5286C>G (p.His1762Gln) c.1281C>G (p.His427Gln) | |
| 14 | g.64772847G>T | CA390041260 | SPTB | c.5286C>A (p.His1762Gln) c.1281C>A (p.His427Gln) | |
| 14 | g.64772848T>A | CA390041261 | SPTB | c.5285A>T (p.His1762Leu) c.1280A>T (p.His427Leu) | |
| 14 | g.64772848T>C | CA390041262 | SPTB | c.5285A>G (p.His1762Arg) c.1280A>G (p.His427Arg) | |
| 14 | g.64772848T>G | CA390041263 | SPTB | c.5285A>C (p.His1762Pro) c.1280A>C (p.His427Pro) | |
| 14 | g.64772849G>A | CA390041264 | SPTB | c.5284C>T (p.His1762Tyr) c.1279C>T (p.His427Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772849G>C | CA390041265 | SPTB | c.5284C>G (p.His1762Asp) c.1279C>G (p.His427Asp) | gnomAD v4 |
| 14 | g.64772849G= | CA2142804207 | SPTB | c.5284C= (p.His1762=) c.1279C= (p.His427=) | |
| 14 | g.64772849G>T | CA390041266 | SPTB | c.5284C>A (p.His1762Asn) c.1279C>A (p.His427Asn) | gnomAD v4 |
| 14 | g.64772850G>A | CA486968024 | SPTB | c.5283C>T (p.Gly1761=) c.1278C>T (p.Gly426=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772850G>C | CA486968026 | SPTB | c.5283C>G (p.Gly1761=) c.1278C>G (p.Gly426=) | |
| 14 | g.64772850G= | CA2142804211 | SPTB | c.5283C= (p.Gly1761=) c.1278C= (p.Gly426=) | |
| 14 | g.64772850G>T | CA486968028 | SPTB | c.5283C>A (p.Gly1761=) c.1278C>A (p.Gly426=) | |
| 14 | g.64772851C>A | CA390041267 | SPTB | c.5282G>T (p.Gly1761Val) c.1277G>T (p.Gly426Val) | |
| 14 | g.64772851C>G | CA390041268 | SPTB | c.5282G>C (p.Gly1761Ala) c.1277G>C (p.Gly426Ala) | |
| 14 | g.64772851C>T | CA390041269 | SPTB | c.5282G>A (p.Gly1761Asp) c.1277G>A (p.Gly426Asp) | |
| 14 | g.64772852C>A | CA390041270 | SPTB | c.5281G>T (p.Gly1761Cys) c.1276G>T (p.Gly426Cys) | |
| 14 | g.64772852C= | CA2142804218 | SPTB | c.5281G= (p.Gly1761=) c.1276G= (p.Gly426=) | |
| 14 | g.64772852C>G | CA390041271 | SPTB | c.5281G>C (p.Gly1761Arg) c.1276G>C (p.Gly426Arg) | |
| 14 | g.64772852C>T | CA390041272 | SPTB | c.5281G>A (p.Gly1761Ser) c.1276G>A (p.Gly426Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772853C>A | CA486968033 | SPTB | c.5280G>T (p.Ala1760=) c.1275G>T (p.Ala425=) | |
| 14 | g.64772853C= | CA2142804224 | SPTB | c.5280G= (p.Ala1760=) c.1275G= (p.Ala425=) | |
| 14 | g.64772853C>G | CA486968034 | SPTB | c.5280G>C (p.Ala1760=) c.1275G>C (p.Ala425=) | |
| 14 | g.64772853C>T | CA7230004 | SPTB | c.5280G>A (p.Ala1760=) c.1275G>A (p.Ala425=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772854G>A | CA7230005 | SPTB | c.5279C>T (p.Ala1760Val) c.1274C>T (p.Ala425Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772854G>C | CA390041273 | SPTB | c.5279C>G (p.Ala1760Gly) c.1274C>G (p.Ala425Gly) | |
| 14 | g.64772854G= | CA2142804233 | SPTB | c.5279C= (p.Ala1760=) c.1274C= (p.Ala425=) | |
| 14 | g.64772854G>T | CA390041274 | SPTB | c.5279C>A (p.Ala1760Glu) c.1274C>A (p.Ala425Glu) | |
| 14 | g.64772855C>A | CA390041275 | SPTB | c.5278G>T (p.Ala1760Ser) c.1273G>T (p.Ala425Ser) | |
| 14 | g.64772855C= | CA2142804236 | SPTB | c.5278G= (p.Ala1760=) c.1273G= (p.Ala425=) | |
| 14 | g.64772855C>G | CA390041276 | SPTB | c.5278G>C (p.Ala1760Pro) c.1273G>C (p.Ala425Pro) | |
| 14 | g.64772855C>T | CA7230006 | SPTB | c.5278G>A (p.Ala1760Thr) c.1273G>A (p.Ala425Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772856G>A | CA7230007 | SPTB | c.5277C>T (p.Asp1759=) c.1272C>T (p.Asp424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772856G>C | CA390041277 | SPTB | c.5277C>G (p.Asp1759Glu) c.1272C>G (p.Asp424Glu) | |
| 14 | g.64772856G= | CA2142804238 | SPTB | c.5277C= (p.Asp1759=) c.1272C= (p.Asp424=) | |
| 14 | g.64772856G>T | CA390041278 | SPTB | c.5277C>A (p.Asp1759Glu) c.1272C>A (p.Asp424Glu) | |
| 14 | g.64772857T>A | CA390041279 | SPTB | c.5276A>T (p.Asp1759Val) c.1271A>T (p.Asp424Val) | |
| 14 | g.64772857T>C | CA390041280 | SPTB | c.5276A>G (p.Asp1759Gly) c.1271A>G (p.Asp424Gly) | |
| 14 | g.64772857T>G | CA390041281 | SPTB | c.5276A>C (p.Asp1759Ala) c.1271A>C (p.Asp424Ala) | |
| 14 | g.64772858C>A | CA390041282 | SPTB | c.5275G>T (p.Asp1759Tyr) c.1270G>T (p.Asp424Tyr) | |
| 14 | g.64772858C= | CA2142804242 | SPTB | c.5275G= (p.Asp1759=) c.1270G= (p.Asp424=) | |
| 14 | g.64772858C>G | CA390041283 | SPTB | c.5275G>C (p.Asp1759His) c.1270G>C (p.Asp424His) | |
| 14 | g.64772858C>T | CA7230008 | SPTB | c.5275G>A (p.Asp1759Asn) c.1270G>A (p.Asp424Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772859G>A | CA7230009 | SPTB | c.5274C>T (p.Ile1758=) c.1269C>T (p.Ile423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772859G>C | CA390041284 | SPTB | c.5274C>G (p.Ile1758Met) c.1269C>G (p.Ile423Met) | |
| 14 | g.64772859G= | CA2142804246 | SPTB | c.5274C= (p.Ile1758=) c.1269C= (p.Ile423=) | |
| 14 | g.64772859G>T | CA486968070 | SPTB | c.5274C>A (p.Ile1758=) c.1269C>A (p.Ile423=) | gnomAD v4 |
| 14 | g.64772860A= | CA2142804248 | SPTB | c.5273T= (p.Ile1758=) c.1268T= (p.Ile423=) | |
| 14 | g.64772860A>C | CA390041285 | SPTB | c.5273T>G (p.Ile1758Ser) c.1268T>G (p.Ile423Ser) | |
| 14 | g.64772860A>G | CA390041287 | SPTB | c.5273T>C (p.Ile1758Thr) c.1268T>C (p.Ile423Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772860A>T | CA390041286 | SPTB | c.5273T>A (p.Ile1758Asn) c.1268T>A (p.Ile423Asn) | |
| 14 | g.64772861T>A | CA7230010 | SPTB | c.5272A>T (p.Ile1758Phe) c.1267A>T (p.Ile423Phe) | dbSNP ExAC gnomAD v2 |
| 14 | g.64772861T>C | CA390041289 | SPTB | c.5272A>G (p.Ile1758Val) c.1267A>G (p.Ile423Val) | gnomAD v4 |
| 14 | g.64772861T>G | CA390041288 | SPTB | c.5272A>C (p.Ile1758Leu) c.1267A>C (p.Ile423Leu) | |
| 14 | g.64772861T= | CA2142804254 | SPTB | c.5272A= (p.Ile1758=) c.1267A= (p.Ile423=) | |
| 14 | g.64772862G>A | CA262689314 | SPTB | c.5271C>T (p.Leu1757=) c.1266C>T (p.Leu422=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772862G>C | CA486968086 | SPTB | c.5271C>G (p.Leu1757=) c.1266C>G (p.Leu422=) | |
| 14 | g.64772862G= | CA2142804257 | SPTB | c.5271C= (p.Leu1757=) c.1266C= (p.Leu422=) | |
| 14 | g.64772862G>T | CA486968081 | SPTB | c.5271C>A (p.Leu1757=) c.1266C>A (p.Leu422=) | |
| 14 | g.64772863A>C | CA390041290 | SPTB | c.5270T>G (p.Leu1757Arg) c.1265T>G (p.Leu422Arg) | |
| 14 | g.64772863A>G | CA390041291 | SPTB | c.5270T>C (p.Leu1757Pro) c.1265T>C (p.Leu422Pro) | |
| 14 | g.64772863A>T | CA390041292 | SPTB | c.5270T>A (p.Leu1757His) c.1265T>A (p.Leu422His) | |
| 14 | g.64772864G>A | CA390041293 | SPTB | c.5269C>T (p.Leu1757Phe) c.1264C>T (p.Leu422Phe) | |
| 14 | g.64772864G>C | CA390041294 | SPTB | c.5269C>G (p.Leu1757Val) c.1264C>G (p.Leu422Val) | |
| 14 | g.64772864G>T | CA390041295 | SPTB | c.5269C>A (p.Leu1757Ile) c.1264C>A (p.Leu422Ile) | |
| 14 | g.64772865T>A | CA486968092 | SPTB | c.5268A>T (p.Arg1756=) c.1263A>T (p.Arg421=) | |
| 14 | g.64772865T>C | CA486968095 | SPTB | c.5268A>G (p.Arg1756=) c.1263A>G (p.Arg421=) | |
| 14 | g.64772865T>G | CA486968097 | SPTB | c.5268A>C (p.Arg1756=) c.1263A>C (p.Arg421=) | |
| 14 | g.64772866C>A | CA262689316 | SPTB | c.5267G>T (p.Arg1756Leu) c.1262G>T (p.Arg421Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772866C= | CA2142804265 | SPTB | c.5267G= (p.Arg1756=) c.1262G= (p.Arg421=) | |
| 14 | g.64772866C>G | CA390041296 | SPTB | c.5267G>C (p.Arg1756Pro) c.1262G>C (p.Arg421Pro) | |
| 14 | g.64772866C>T | CA7230011 | SPTB | c.5267G>A (p.Arg1756Gln) c.1262G>A (p.Arg421Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772867G>A | CA210954 | SPTB | c.5266C>T (p.Arg1756Ter) c.1261C>T (p.Arg421Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772867G>C | CA390041297 | SPTB | c.5266C>G (p.Arg1756Gly) c.1261C>G (p.Arg421Gly) | |
| 14 | g.64772867G= | CA2142804279 | SPTB | c.5266C= (p.Arg1756=) c.1261C= (p.Arg421=) | |
| 14 | g.64772867G>T | CA486968100 | SPTB | c.5266C>A (p.Arg1756=) c.1261C>A (p.Arg421=) | |
| 14 | g.64772868C>A | CA390041298 | SPTB | c.5265G>T (p.Glu1755Asp) c.1260G>T (p.Glu420Asp) | |
| 14 | g.64772868C= | CA2142804286 | SPTB | c.5265G= (p.Glu1755=) c.1260G= (p.Glu420=) | |
| 14 | g.64772868C>G | CA390041299 | SPTB | c.5265G>C (p.Glu1755Asp) c.1260G>C (p.Glu420Asp) | |
| 14 | g.64772868C>T | CA7230012 | SPTB | c.5265G>A (p.Glu1755=) c.1260G>A (p.Glu420=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772869T>A | CA390041300 | SPTB | c.5264A>T (p.Glu1755Val) c.1259A>T (p.Glu420Val) | |
| 14 | g.64772869T>C | CA390041301 | SPTB | c.5264A>G (p.Glu1755Gly) c.1259A>G (p.Glu420Gly) | gnomAD v4 |
| 14 | g.64772869T>G | CA390041302 | SPTB | c.5264A>C (p.Glu1755Ala) c.1259A>C (p.Glu420Ala) | |
| 14 | g.64772870C>A | CA390041303 | SPTB | c.5263G>T (p.Glu1755Ter) c.1258G>T (p.Glu420Ter) | |
| 14 | g.64772870C= | CA2142804295 | SPTB | c.5263G= (p.Glu1755=) c.1258G= (p.Glu420=) | |
| 14 | g.64772870C>G | CA390041304 | SPTB | c.5263G>C (p.Glu1755Gln) c.1258G>C (p.Glu420Gln) | |
| 14 | g.64772870C>T | CA262689334 | SPTB | c.5263G>A (p.Glu1755Lys) c.1258G>A (p.Glu420Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772871G>A | CA262689342 | SPTB | c.5262C>T (p.Ile1754=) c.1257C>T (p.Ile419=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772871G>C | CA390041305 | SPTB | c.5262C>G (p.Ile1754Met) c.1257C>G (p.Ile419Met) | gnomAD v4 |
| 14 | g.64772871G= | CA2142804305 | SPTB | c.5262C= (p.Ile1754=) c.1257C= (p.Ile419=) | |
| 14 | g.64772871G>T | CA486968111 | SPTB | c.5262C>A (p.Ile1754=) c.1257C>A (p.Ile419=) | COSMIC COSMIC |
| 14 | g.64772872A>C | CA390041307 | SPTB | c.5261T>G (p.Ile1754Ser) c.1256T>G (p.Ile419Ser) | |
| 14 | g.64772872A>G | CA390041308 | SPTB | c.5261T>C (p.Ile1754Thr) c.1256T>C (p.Ile419Thr) | |
| 14 | g.64772872A>T | CA390041306 | SPTB | c.5261T>A (p.Ile1754Asn) c.1256T>A (p.Ile419Asn) | |
| 14 | g.64772873T>A | CA390041309 | SPTB | c.5260A>T (p.Ile1754Phe) c.1255A>T (p.Ile419Phe) | |
| 14 | g.64772873T>C | CA7230013 | SPTB | c.5260A>G (p.Ile1754Val) c.1255A>G (p.Ile419Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772873T>G | CA390041310 | SPTB | c.5260A>C (p.Ile1754Leu) c.1255A>C (p.Ile419Leu) | |
| 14 | g.64772873T= | CA2142804311 | SPTB | c.5260A= (p.Ile1754=) c.1255A= (p.Ile419=) | |
| 14 | g.64772874G>A | CA486968123 | SPTB | c.5259C>T (p.Phe1753=) c.1254C>T (p.Phe418=) | |
| 14 | g.64772874G>C | CA390041311 | SPTB | c.5259C>G (p.Phe1753Leu) c.1254C>G (p.Phe418Leu) | |
| 14 | g.64772874G>T | CA390041312 | SPTB | c.5259C>A (p.Phe1753Leu) c.1254C>A (p.Phe418Leu) | gnomAD v4 COSMIC COSMIC |
| 14 | g.64772875A>C | CA390041313 | SPTB | c.5258T>G (p.Phe1753Cys) c.1253T>G (p.Phe418Cys) | |
| 14 | g.64772875A>G | CA390041314 | SPTB | c.5258T>C (p.Phe1753Ser) c.1253T>C (p.Phe418Ser) | |
| 14 | g.64772875A>T | CA390041315 | SPTB | c.5258T>A (p.Phe1753Tyr) c.1253T>A (p.Phe418Tyr) | |
| 14 | g.64772876A>C | CA390041316 | SPTB | c.5257T>G (p.Phe1753Val) c.1252T>G (p.Phe418Val) | |
| 14 | g.64772876A>G | CA390041317 | SPTB | c.5257T>C (p.Phe1753Leu) c.1252T>C (p.Phe418Leu) | COSMIC COSMIC |
| 14 | g.64772876A>T | CA390041318 | SPTB | c.5257T>A (p.Phe1753Ile) c.1252T>A (p.Phe418Ile) | |
| 14 | g.64772877G>A | CA486968135 | SPTB | c.5256C>T (p.Ala1752=) c.1251C>T (p.Ala417=) | |
| 14 | g.64772877G>C | CA486968137 | SPTB | c.5256C>G (p.Ala1752=) c.1251C>G (p.Ala417=) | |
| 14 | g.64772877G>T | CA486968139 | SPTB | c.5256C>A (p.Ala1752=) c.1251C>A (p.Ala417=) | |
| 14 | g.64772878G>A | CA262689358 | SPTB | c.5255C>T (p.Ala1752Val) c.1250C>T (p.Ala417Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772878G>C | CA7230014 | SPTB | c.5255C>G (p.Ala1752Gly) c.1250C>G (p.Ala417Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772878G= | CA2142804319 | SPTB | c.5255C= (p.Ala1752=) c.1250C= (p.Ala417=) | |
| 14 | g.64772878G>T | CA262689368 | SPTB | c.5255C>A (p.Ala1752Asp) c.1250C>A (p.Ala417Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772879C>A | CA390041319 | SPTB | c.5254G>T (p.Ala1752Ser) c.1249G>T (p.Ala417Ser) | |
| 14 | g.64772879C>G | CA390041320 | SPTB | c.5254G>C (p.Ala1752Pro) c.1249G>C (p.Ala417Pro) | |
| 14 | g.64772879C>T | CA390041321 | SPTB | c.5254G>A (p.Ala1752Thr) c.1249G>A (p.Ala417Thr) | gnomAD v4 |
| 14 | g.64772880A= | CA2142804337 | SPTB | c.5253T= (p.Asn1751=) c.1248T= (p.Asn416=) | |
| 14 | g.64772880A>C | CA390041322 | SPTB | c.5253T>G (p.Asn1751Lys) c.1248T>G (p.Asn416Lys) | |
| 14 | g.64772880A>G | CA486968144 | SPTB | c.5253T>C (p.Asn1751=) c.1248T>C (p.Asn416=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772880A>T | CA390041323 | SPTB | c.5253T>A (p.Asn1751Lys) c.1248T>A (p.Asn416Lys) |