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 |
|---|---|---|---|---|---|
| 1 | g.15930484T>A | CA338613209 | SPEN | c.*5095T>A (n.*5095T>A) c.4244T>A (p.Leu1415Gln) | |
| 1 | g.15930484T>C | CA338613211 | SPEN | c.*5095T>C (n.*5095T>C) c.4244T>C (p.Leu1415Pro) | |
| 1 | g.15930484T>G | CA338613213 | SPEN | c.*5095T>G (n.*5095T>G) c.4244T>G (p.Leu1415Arg) | |
| 1 | g.15930485A= | CA1145098000 | SPEN | c.*5096A= (n.*5096A=) c.4245A= (p.Leu1415=) | |
| 1 | g.15930485A>C | CA416380218 | SPEN | c.*5096A>C (n.*5096A>C) c.4245A>C (p.Leu1415=) | |
| 1 | g.15930485A>G | CA619556 | SPEN | c.*5096A>G (n.*5096A>G) c.4245A>G (p.Leu1415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.15930485A>T | CA416380219 | SPEN | c.*5096A>T (n.*5096A>T) c.4245A>T (p.Leu1415=) | COSMIC |
| 1 | g.15930486C>A | CA338613220 | SPEN | c.*5097C>A (n.*5097C>A) c.4246C>A (p.Arg1416Ser) | |
| 1 | g.15930486C= | CA1155574042 | SPEN | c.*5097C= (n.*5097C=) c.4246C= (p.Arg1416=) | |
| 1 | g.15930486C>G | CA338613228 | SPEN | c.*5097C>G (n.*5097C>G) c.4246C>G (p.Arg1416Gly) | |
| 1 | g.15930486C>T | CA619557 | SPEN | c.*5097C>T (n.*5097C>T) c.4246C>T (p.Arg1416Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.15930487G>A | CA619558 | SPEN | c.*5098G>A (n.*5098G>A) c.4247G>A (p.Arg1416His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930487G>C | CA338613232 | SPEN | c.*5098G>C (n.*5098G>C) c.4247G>C (p.Arg1416Pro) | gnomAD v4 |
| 1 | g.15930487G= | CA1155574047 | SPEN | c.*5098G= (n.*5098G=) c.4247G= (p.Arg1416=) | |
| 1 | g.15930487G>T | CA338613234 | SPEN | c.*5098G>T (n.*5098G>T) c.4247G>T (p.Arg1416Leu) | |
| 1 | g.15930488T>A | CA416380222 | SPEN | c.*5099T>A (n.*5099T>A) c.4248T>A (p.Arg1416=) | |
| 1 | g.15930488T>C | CA416380223 | SPEN | c.*5099T>C (n.*5099T>C) c.4248T>C (p.Arg1416=) | |
| 1 | g.15930488T>G | CA416380224 | SPEN | c.*5099T>G (n.*5099T>G) c.4248T>G (p.Arg1416=) | |
| 1 | g.15930489G>A | CA338613240 | SPEN | c.*5100G>A (n.*5100G>A) c.4249G>A (p.Glu1417Lys) | |
| 1 | g.15930489G>C | CA338613243 | SPEN | c.*5100G>C (n.*5100G>C) c.4249G>C (p.Glu1417Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930489G= | CA1155574049 | SPEN | c.*5100G= (n.*5100G=) c.4249G= (p.Glu1417=) | |
| 1 | g.15930489G>T | CA338613245 | SPEN | c.*5100G>T (n.*5100G>T) c.4249G>T (p.Glu1417Ter) | |
| 1 | g.15930490A>C | CA338613249 | SPEN | c.*5101A>C (n.*5101A>C) c.4250A>C (p.Glu1417Ala) | |
| 1 | g.15930490A>G | CA338613252 | SPEN | c.*5101A>G (n.*5101A>G) c.4250A>G (p.Glu1417Gly) | |
| 1 | g.15930490A>T | CA338613255 | SPEN | c.*5101A>T (n.*5101A>T) c.4250A>T (p.Glu1417Val) | |
| 1 | g.15930491G>A | CA416380228 | SPEN | c.*5102G>A (n.*5102G>A) c.4251G>A (p.Glu1417=) | |
| 1 | g.15930491G>C | CA338613259 | SPEN | c.*5102G>C (n.*5102G>C) c.4251G>C (p.Glu1417Asp) | |
| 1 | g.15930491G>T | CA338613262 | SPEN | c.*5102G>T (n.*5102G>T) c.4251G>T (p.Glu1417Asp) | |
| 1 | g.15930492C>A | CA416380232 | SPEN | c.*5103C>A (n.*5103C>A) c.4252C>A (p.Arg1418=) | |
| 1 | g.15930492C>G | CA338613266 | SPEN | c.*5103C>G (n.*5103C>G) c.4252C>G (p.Arg1418Gly) | |
| 1 | g.15930492C>T | CA338613269 | SPEN | c.*5103C>T (n.*5103C>T) c.4252C>T (p.Arg1418Ter) | |
| 1 | g.15930493G>A | CA18278175 | SPEN | c.*5104G>A (n.*5104G>A) c.4253G>A (p.Arg1418Gln) | ClinVar dbSNP gnomAD v4 |
| 1 | g.15930493G>C | CA338613275 | SPEN | c.*5104G>C (n.*5104G>C) c.4253G>C (p.Arg1418Pro) | |
| 1 | g.15930493G= | CA1155574056 | SPEN | c.*5104G= (n.*5104G=) c.4253G= (p.Arg1418=) | |
| 1 | g.15930493G>T | CA338613278 | SPEN | c.*5104G>T (n.*5104G>T) c.4253G>T (p.Arg1418Leu) | |
| 1 | g.15930494A>C | CA416380233 | SPEN | c.*5105A>C (n.*5105A>C) c.4254A>C (p.Arg1418=) | |
| 1 | g.15930494A>G | CA416380235 | SPEN | c.*5105A>G (n.*5105A>G) c.4254A>G (p.Arg1418=) | |
| 1 | g.15930494A>T | CA416380234 | SPEN | c.*5105A>T (n.*5105A>T) c.4254A>T (p.Arg1418=) | |
| 1 | g.15930495G>A | CA338613285 | SPEN | c.*5106G>A (n.*5106G>A) c.4255G>A (p.Asp1419Asn) | gnomAD v4 |
| 1 | g.15930495G>C | CA338613294 | SPEN | c.*5106G>C (n.*5106G>C) c.4255G>C (p.Asp1419His) | gnomAD v4 |
| 1 | g.15930495G>T | CA338613297 | SPEN | c.*5106G>T (n.*5106G>T) c.4255G>T (p.Asp1419Tyr) | |
| 1 | g.15930496A= | CA1155574061 | SPEN | c.*5107A= (n.*5107A=) c.4256A= (p.Asp1419=) | |
| 1 | g.15930496A>C | CA338613303 | SPEN | c.*5107A>C (n.*5107A>C) c.4256A>C (p.Asp1419Ala) | |
| 1 | g.15930496A>G | CA338613306 | SPEN | c.*5107A>G (n.*5107A>G) c.4256A>G (p.Asp1419Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930496A>T | CA338613309 | SPEN | c.*5107A>T (n.*5107A>T) c.4256A>T (p.Asp1419Val) | |
| 1 | g.15930497T>A | CA338613313 | SPEN | c.*5108T>A (n.*5108T>A) c.4257T>A (p.Asp1419Glu) | |
| 1 | g.15930497T>C | CA416380237 | SPEN | c.*5108T>C (n.*5108T>C) c.4257T>C (p.Asp1419=) | |
| 1 | g.15930497T>G | CA338613314 | SPEN | c.*5108T>G (n.*5108T>G) c.4257T>G (p.Asp1419Glu) | |
| 1 | g.15930498G>A | CA18278177 | SPEN | c.*5109G>A (n.*5109G>A) c.4258G>A (p.Glu1420Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930498G>C | CA338613322 | SPEN | c.*5109G>C (n.*5109G>C) c.4258G>C (p.Glu1420Gln) | |
| 1 | g.15930498G= | CA1155574065 | SPEN | c.*5109G= (n.*5109G=) c.4258G= (p.Glu1420=) | |
| 1 | g.15930498G>T | CA338613325 | SPEN | c.*5109G>T (n.*5109G>T) c.4258G>T (p.Glu1420Ter) | |
| 1 | g.15930499A>C | CA338613332 | SPEN | c.*5110A>C (n.*5110A>C) c.4259A>C (p.Glu1420Ala) | |
| 1 | g.15930499A>G | CA338613330 | SPEN | c.*5110A>G (n.*5110A>G) c.4259A>G (p.Glu1420Gly) | gnomAD v4 |
| 1 | g.15930499A>T | CA338613328 | SPEN | c.*5110A>T (n.*5110A>T) c.4259A>T (p.Glu1420Val) | |
| 1 | g.15930500A>C | CA338613335 | SPEN | c.*5111A>C (n.*5111A>C) c.4260A>C (p.Glu1420Asp) | |
| 1 | g.15930500A>G | CA416380238 | SPEN | c.*5111A>G (n.*5111A>G) c.4260A>G (p.Glu1420=) | |
| 1 | g.15930500A>T | CA338613336 | SPEN | c.*5111A>T (n.*5111A>T) c.4260A>T (p.Glu1420Asp) | |
| 1 | g.15930501A>C | CA416380239 | SPEN | c.*5112A>C (n.*5112A>C) c.4261A>C (p.Arg1421=) | |
| 1 | g.15930501A>G | CA338613337 | SPEN | c.*5112A>G (n.*5112A>G) c.4261A>G (p.Arg1421Gly) | |
| 1 | g.15930501A>T | CA338613339 | SPEN | c.*5112A>T (n.*5112A>T) c.4261A>T (p.Arg1421Ter) | |
| 1 | g.15930502G>A | CA338613343 | SPEN | c.*5113G>A (n.*5113G>A) c.4262G>A (p.Arg1421Lys) | |
| 1 | g.15930502G>C | CA338613348 | SPEN | c.*5113G>C (n.*5113G>C) c.4262G>C (p.Arg1421Thr) | |
| 1 | g.15930502G= | CA1155574071 | SPEN | c.*5113G= (n.*5113G=) c.4262G= (p.Arg1421=) | |
| 1 | g.15930502G>T | CA619559 | SPEN | c.*5113G>T (n.*5113G>T) c.4262G>T (p.Arg1421Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930503A= | CA1155574075 | SPEN | c.*5114A= (n.*5114A=) c.4263A= (p.Arg1421=) | |
| 1 | g.15930503A>C | CA338613353 | SPEN | c.*5114A>C (n.*5114A>C) c.4263A>C (p.Arg1421Ser) | |
| 1 | g.15930503A>G | CA416380241 | SPEN | c.*5114A>G (n.*5114A>G) c.4263A>G (p.Arg1421=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930503A>T | CA338613356 | SPEN | c.*5114A>T (n.*5114A>T) c.4263A>T (p.Arg1421Ser) | gnomAD v4 |
| 1 | g.15930504C>A | CA338613361 | SPEN | c.*5115C>A (n.*5115C>A) c.4264C>A (p.Leu1422Ile) | gnomAD v4 |
| 1 | g.15930504C= | CA1155574081 | SPEN | c.*5115C= (n.*5115C=) c.4264C= (p.Leu1422=) | |
| 1 | g.15930504C>G | CA338613364 | SPEN | c.*5115C>G (n.*5115C>G) c.4264C>G (p.Leu1422Val) | |
| 1 | g.15930504C>T | CA338613366 | SPEN | c.*5115C>T (n.*5115C>T) c.4264C>T (p.Leu1422Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930505T>A | CA338613370 | SPEN | c.*5116T>A (n.*5116T>A) c.4265T>A (p.Leu1422His) | gnomAD v4 |
| 1 | g.15930505T>C | CA338613374 | SPEN | c.*5116T>C (n.*5116T>C) c.4265T>C (p.Leu1422Pro) | |
| 1 | g.15930505T>G | CA338613377 | SPEN | c.*5116T>G (n.*5116T>G) c.4265T>G (p.Leu1422Arg) | |
| 1 | g.15930506C>A | CA416380242 | SPEN | c.*5117C>A (n.*5117C>A) c.4266C>A (p.Leu1422=) | |
| 1 | g.15930506C= | CA1155574086 | SPEN | c.*5117C= (n.*5117C=) c.4266C= (p.Leu1422=) | |
| 1 | g.15930506C>G | CA416380243 | SPEN | c.*5117C>G (n.*5117C>G) c.4266C>G (p.Leu1422=) | |
| 1 | g.15930506C>T | CA619560 | SPEN | c.*5117C>T (n.*5117C>T) c.4266C>T (p.Leu1422=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930507T>A | CA338613380 | SPEN | c.*5118T>A (n.*5118T>A) c.4267T>A (p.Ser1423Thr) | |
| 1 | g.15930507T>C | CA338613379 | SPEN | c.*5118T>C (n.*5118T>C) c.4267T>C (p.Ser1423Pro) | |
| 1 | g.15930507T>G | CA338613378 | SPEN | c.*5118T>G (n.*5118T>G) c.4267T>G (p.Ser1423Ala) | |
| 1 | g.15930508C>A | CA338613382 | SPEN | c.*5119C>A (n.*5119C>A) c.4268C>A (p.Ser1423Tyr) | |
| 1 | g.15930508C>G | CA338613384 | SPEN | c.*5119C>G (n.*5119C>G) c.4268C>G (p.Ser1423Cys) | gnomAD v4 |
| 1 | g.15930508C>T | CA338613387 | SPEN | c.*5119C>T (n.*5119C>T) c.4268C>T (p.Ser1423Phe) | |
| 1 | g.15930509T>A | CA416380246 | SPEN | c.*5120T>A (n.*5120T>A) c.4269T>A (p.Ser1423=) | |
| 1 | g.15930509T>C | CA416380247 | SPEN | c.*5120T>C (n.*5120T>C) c.4269T>C (p.Ser1423=) | gnomAD v4 |
| 1 | g.15930509T>G | CA416380249 | SPEN | c.*5120T>G (n.*5120T>G) c.4269T>G (p.Ser1423=) | |
| 1 | g.15930510A>C | CA338613391 | SPEN | c.*5121A>C (n.*5121A>C) c.4270A>C (p.Ser1424Arg) | |
| 1 | g.15930510A>G | CA338613395 | SPEN | c.*5121A>G (n.*5121A>G) c.4270A>G (p.Ser1424Gly) | |
| 1 | g.15930510A>T | CA338613398 | SPEN | c.*5121A>T (n.*5121A>T) c.4270A>T (p.Ser1424Cys) | |
| 1 | g.15930511G>A | CA338613401 | SPEN | c.*5122G>A (n.*5122G>A) c.4271G>A (p.Ser1424Asn) | dbSNP |
| 1 | g.15930511G>C | CA338613402 | SPEN | c.*5122G>C (n.*5122G>C) c.4271G>C (p.Ser1424Thr) | |
| 1 | g.15930511G= | CA1155574089 | SPEN | c.*5122G= (n.*5122G=) c.4271G= (p.Ser1424=) | |
| 1 | g.15930511G>T | CA338613403 | SPEN | c.*5122G>T (n.*5122G>T) c.4271G>T (p.Ser1424Ile) | |
| 1 | g.15930512T>A | CA338613407 | SPEN | c.*5123T>A (n.*5123T>A) c.4272T>A (p.Ser1424Arg) | |
| 1 | g.15930512T>C | CA416380252 | SPEN | c.*5123T>C (n.*5123T>C) c.4272T>C (p.Ser1424=) | |
| 1 | g.15930512T>G | CA338613410 | SPEN | c.*5123T>G (n.*5123T>G) c.4272T>G (p.Ser1424Arg) | |
| 1 | g.15930513T>A | CA338613425 | SPEN | c.*5124T>A (n.*5124T>A) c.4273T>A (p.Ser1425Thr) | |
| 1 | g.15930513T>C | CA338613428 | SPEN | c.*5124T>C (n.*5124T>C) c.4273T>C (p.Ser1425Pro) | |
| 1 | g.15930513T>G | CA338613415 | SPEN | c.*5124T>G (n.*5124T>G) c.4273T>G (p.Ser1425Ala) | |
| 1 | g.15930514C>A | CA338613432 | SPEN | c.*5125C>A (n.*5125C>A) c.4274C>A (p.Ser1425Tyr) | |
| 1 | g.15930514C>G | CA338613435 | SPEN | c.*5125C>G (n.*5125C>G) c.4274C>G (p.Ser1425Cys) | gnomAD v4 |
| 1 | g.15930514C>T | CA338613437 | SPEN | c.*5125C>T (n.*5125C>T) c.4274C>T (p.Ser1425Phe) | |
| 1 | g.15930515T>A | CA416380257 | SPEN | c.*5126T>A (n.*5126T>A) c.4275T>A (p.Ser1425=) | |
| 1 | g.15930515T>C | CA416380255 | SPEN | c.*5126T>C (n.*5126T>C) c.4275T>C (p.Ser1425=) | |
| 1 | g.15930515T>G | CA416380256 | SPEN | c.*5126T>G (n.*5126T>G) c.4275T>G (p.Ser1425=) | |
| 1 | g.15930516T>A | CA338613443 | SPEN | c.*5127T>A (n.*5127T>A) c.4276T>A (p.Leu1426Ile) | |
| 1 | g.15930516T>C | CA416380259 | SPEN | c.*5127T>C (n.*5127T>C) c.4276T>C (p.Leu1426=) | |
| 1 | g.15930516T>G | CA338613444 | SPEN | c.*5127T>G (n.*5127T>G) c.4276T>G (p.Leu1426Val) | COSMIC |
| 1 | g.15930517T>A | CA338613450 | SPEN | c.*5128T>A (n.*5128T>A) c.4277T>A (p.Leu1426Ter) | COSMIC |
| 1 | g.15930517T>C | CA619561 | SPEN | c.*5128T>C (n.*5128T>C) c.4277T>C (p.Leu1426Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930517T>G | CA338613447 | SPEN | c.*5128T>G (n.*5128T>G) c.4277T>G (p.Leu1426Ter) | |
| 1 | g.15930517T= | CA1155574091 | SPEN | c.*5128T= (n.*5128T=) c.4277T= (p.Leu1426=) | |
| 1 | g.15930518A>C | CA338613453 | SPEN | c.*5129A>C (n.*5129A>C) c.4278A>C (p.Leu1426Phe) | |
| 1 | g.15930518A>G | CA416380261 | SPEN | c.*5129A>G (n.*5129A>G) c.4278A>G (p.Leu1426=) | |
| 1 | g.15930518A>T | CA338613456 | SPEN | c.*5129A>T (n.*5129A>T) c.4278A>T (p.Leu1426Phe) | |
| 1 | g.15930519G>A | CA338613459 | SPEN | c.*5130G>A (n.*5130G>A) c.4279G>A (p.Glu1427Lys) | |
| 1 | g.15930519G>C | CA338613462 | SPEN | c.*5130G>C (n.*5130G>C) c.4279G>C (p.Glu1427Gln) | |
| 1 | g.15930519G>T | CA338613464 | SPEN | c.*5130G>T (n.*5130G>T) c.4279G>T (p.Glu1427Ter) | |
| 1 | g.15930520A>C | CA338613468 | SPEN | c.*5131A>C (n.*5131A>C) c.4280A>C (p.Glu1427Ala) | |
| 1 | g.15930520A>G | CA338613475 | SPEN | c.*5131A>G (n.*5131A>G) c.4280A>G (p.Glu1427Gly) | |
| 1 | g.15930520A>T | CA338613470 | SPEN | c.*5131A>T (n.*5131A>T) c.4280A>T (p.Glu1427Val) | |
| 1 | g.15930521A>C | CA338613482 | SPEN | c.*5132A>C (n.*5132A>C) c.4281A>C (p.Glu1427Asp) | |
| 1 | g.15930521A>G | CA416380267 | SPEN | c.*5132A>G (n.*5132A>G) c.4281A>G (p.Glu1427=) | gnomAD v4 |
| 1 | g.15930521A>T | CA338613485 | SPEN | c.*5132A>T (n.*5132A>T) c.4281A>T (p.Glu1427Asp) | |
| 1 | g.15930522A>C | CA416380269 | SPEN | c.*5133A>C (n.*5133A>C) c.4282A>C (p.Arg1428=) | |
| 1 | g.15930522A>G | CA338613488 | SPEN | c.*5133A>G (n.*5133A>G) c.4282A>G (p.Arg1428Gly) | gnomAD v4 |
| 1 | g.15930522A>T | CA338613489 | SPEN | c.*5133A>T (n.*5133A>T) c.4282A>T (p.Arg1428Trp) | |
| 1 | g.15930523G>A | CA338613492 | SPEN | c.*5134G>A (n.*5134G>A) c.4283G>A (p.Arg1428Lys) | |
| 1 | g.15930523G>C | CA338613495 | SPEN | c.*5134G>C (n.*5134G>C) c.4283G>C (p.Arg1428Thr) | |
| 1 | g.15930523G>T | CA338613497 | SPEN | c.*5134G>T (n.*5134G>T) c.4283G>T (p.Arg1428Met) | |
| 1 | g.15930524G>A | CA416380274 | SPEN | c.*5135G>A (n.*5135G>A) c.4284G>A (p.Arg1428=) | |
| 1 | g.15930524G>C | CA338613501 | SPEN | c.*5135G>C (n.*5135G>C) c.4284G>C (p.Arg1428Ser) | |
| 1 | g.15930524G>T | CA338613504 | SPEN | c.*5135G>T (n.*5135G>T) c.4284G>T (p.Arg1428Ser) | |
| 1 | g.15930525A>C | CA338613508 | SPEN | c.*5136A>C (n.*5136A>C) c.4285A>C (p.Asn1429His) | |
| 1 | g.15930525A>G | CA338613510 | SPEN | c.*5136A>G (n.*5136A>G) c.4285A>G (p.Asn1429Asp) | |
| 1 | g.15930525A>T | CA338613513 | SPEN | c.*5136A>T (n.*5136A>T) c.4285A>T (p.Asn1429Tyr) | |
| 1 | g.15930526A= | CA1155574093 | SPEN | c.*5137A= (n.*5137A=) c.4286A= (p.Asn1429=) | |
| 1 | g.15930526A>C | CA338613537 | SPEN | c.*5137A>C (n.*5137A>C) c.4286A>C (p.Asn1429Thr) | |
| 1 | g.15930526A>G | CA619562 | SPEN | c.*5137A>G (n.*5137A>G) c.4286A>G (p.Asn1429Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930526A>T | CA338613521 | SPEN | c.*5137A>T (n.*5137A>T) c.4286A>T (p.Asn1429Ile) | |
| 1 | g.15930527C>A | CA338613544 | SPEN | c.*5138C>A (n.*5138C>A) c.4287C>A (p.Asn1429Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930527C= | CA1155574097 | SPEN | c.*5138C= (n.*5138C=) c.4287C= (p.Asn1429=) | |
| 1 | g.15930527C>G | CA338613545 | SPEN | c.*5138C>G (n.*5138C>G) c.4287C>G (p.Asn1429Lys) | |
| 1 | g.15930527C>T | CA416380276 | SPEN | c.*5138C>T (n.*5138C>T) c.4287C>T (p.Asn1429=) | |
| 1 | g.15930528A>C | CA338613555 | SPEN | c.*5139A>C (n.*5139A>C) c.4288A>C (p.Lys1430Gln) | |
| 1 | g.15930528A>G | CA338613557 | SPEN | c.*5139A>G (n.*5139A>G) c.4288A>G (p.Lys1430Glu) | |
| 1 | g.15930528A>T | CA338613559 | SPEN | c.*5139A>T (n.*5139A>T) c.4288A>T (p.Lys1430Ter) | |
| 1 | g.15930529A= | CA1155574101 | SPEN | c.*5140A= (n.*5140A=) c.4289A= (p.Lys1430=) | |
| 1 | g.15930529A>C | CA338613571 | SPEN | c.*5140A>C (n.*5140A>C) c.4289A>C (p.Lys1430Thr) | |
| 1 | g.15930529A>G | CA619563 | SPEN | c.*5140A>G (n.*5140A>G) c.4289A>G (p.Lys1430Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930529A>T | CA338613568 | SPEN | c.*5140A>T (n.*5140A>T) c.4289A>T (p.Lys1430Ile) | |
| 1 | g.15930530A>C | CA338613575 | SPEN | c.*5141A>C (n.*5141A>C) c.4290A>C (p.Lys1430Asn) | |
| 1 | g.15930530A>G | CA416380278 | SPEN | c.*5141A>G (n.*5141A>G) c.4290A>G (p.Lys1430=) | |
| 1 | g.15930530A>T | CA338613579 | SPEN | c.*5141A>T (n.*5141A>T) c.4290A>T (p.Lys1430Asn) | |
| 1 | g.15930531T>A | CA338613583 | SPEN | c.*5142T>A (n.*5142T>A) c.4291T>A (p.Phe1431Ile) | |
| 1 | g.15930531T>C | CA338613587 | SPEN | c.*5142T>C (n.*5142T>C) c.4291T>C (p.Phe1431Leu) | |
| 1 | g.15930531T>G | CA338613588 | SPEN | c.*5142T>G (n.*5142T>G) c.4291T>G (p.Phe1431Val) | |
| 1 | g.15930532T>A | CA338613596 | SPEN | c.*5143T>A (n.*5143T>A) c.4292T>A (p.Phe1431Tyr) | |
| 1 | g.15930532T>C | CA338613591 | SPEN | c.*5143T>C (n.*5143T>C) c.4292T>C (p.Phe1431Ser) | |
| 1 | g.15930532T>G | CA338613594 | SPEN | c.*5143T>G (n.*5143T>G) c.4292T>G (p.Phe1431Cys) | |
| 1 | g.15930533T>A | CA338613599 | SPEN | c.*5144T>A (n.*5144T>A) c.4293T>A (p.Phe1431Leu) | |
| 1 | g.15930533T>C | CA416380284 | SPEN | c.*5144T>C (n.*5144T>C) c.4293T>C (p.Phe1431=) | |
| 1 | g.15930533T>G | CA338613601 | SPEN | c.*5144T>G (n.*5144T>G) c.4293T>G (p.Phe1431Leu) | gnomAD v4 |
| 1 | g.15930534T>A | CA338613605 | SPEN | c.*5145T>A (n.*5145T>A) c.4294T>A (p.Tyr1432Asn) | |
| 1 | g.15930534T>C | CA338613608 | SPEN | c.*5145T>C (n.*5145T>C) c.4294T>C (p.Tyr1432His) | |
| 1 | g.15930534T>G | CA338613610 | SPEN | c.*5145T>G (n.*5145T>G) c.4294T>G (p.Tyr1432Asp) | |
| 1 | g.15930535A>C | CA338613614 | SPEN | c.*5146A>C (n.*5146A>C) c.4295A>C (p.Tyr1432Ser) | |
| 1 | g.15930535A>G | CA338613616 | SPEN | c.*5146A>G (n.*5146A>G) c.4295A>G (p.Tyr1432Cys) | |
| 1 | g.15930535A>T | CA338613621 | SPEN | c.*5146A>T (n.*5146A>T) c.4295A>T (p.Tyr1432Phe) | |
| 1 | g.15930536C>A | CA338613625 | SPEN | c.*5147C>A (n.*5147C>A) c.4296C>A (p.Tyr1432Ter) | |
| 1 | g.15930536C>G | CA338613627 | SPEN | c.*5147C>G (n.*5147C>G) c.4296C>G (p.Tyr1432Ter) | |
| 1 | g.15930536C>T | CA416380287 | SPEN | c.*5147C>T (n.*5147C>T) c.4296C>T (p.Tyr1432=) | gnomAD v4 |
| 1 | g.15930537T>A | CA338613631 | SPEN | c.*5148T>A (n.*5148T>A) c.4297T>A (p.Ser1433Thr) | |
| 1 | g.15930537T>C | CA338613635 | SPEN | c.*5148T>C (n.*5148T>C) c.4297T>C (p.Ser1433Pro) | |
| 1 | g.15930537T>G | CA338613638 | SPEN | c.*5148T>G (n.*5148T>G) c.4297T>G (p.Ser1433Ala) | |
| 1 | g.15930538C>A | CA338613643 | SPEN | c.*5149C>A (n.*5149C>A) c.4298C>A (p.Ser1433Tyr) | COSMIC |
| 1 | g.15930538C= | CA1155574104 | SPEN | c.*5149C= (n.*5149C=) c.4298C= (p.Ser1433=) | |
| 1 | g.15930538C>G | CA338613649 | SPEN | c.*5149C>G (n.*5149C>G) c.4298C>G (p.Ser1433Cys) | |
| 1 | g.15930538C>T | CA338613646 | SPEN | c.*5149C>T (n.*5149C>T) c.4298C>T (p.Ser1433Phe) | dbSNP |
| 1 | g.15930539T>A | CA416380289 | SPEN | c.*5150T>A (n.*5150T>A) c.4299T>A (p.Ser1433=) | |
| 1 | g.15930539T>C | CA416380291 | SPEN | c.*5150T>C (n.*5150T>C) c.4299T>C (p.Ser1433=) | gnomAD v4 |
| 1 | g.15930539T>G | CA416380292 | SPEN | c.*5150T>G (n.*5150T>G) c.4299T>G (p.Ser1433=) | gnomAD v4 |
| 1 | g.15930542del | CA645512402 | SPEN | c.*5153del (n.*5153del) c.4302del (p.Phe1434LeufsTer?) | COSMIC |
| 1 | g.15930540T>A | CA338613654 | SPEN | c.*5151T>A (n.*5151T>A) c.4300T>A (p.Phe1434Ile) | |
| 1 | g.15930540T>C | CA338613657 | SPEN | c.*5151T>C (n.*5151T>C) c.4300T>C (p.Phe1434Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930540T>G | CA338613659 | SPEN | c.*5151T>G (n.*5151T>G) c.4300T>G (p.Phe1434Val) | |
| 1 | g.15930540T= | CA1155574106 | SPEN | c.*5151T= (n.*5151T=) c.4300T= (p.Phe1434=) | |
| 1 | g.15930541T>A | CA338613663 | SPEN | c.*5152T>A (n.*5152T>A) c.4301T>A (p.Phe1434Tyr) | |
| 1 | g.15930541T>C | CA338613666 | SPEN | c.*5152T>C (n.*5152T>C) c.4301T>C (p.Phe1434Ser) | COSMIC |
| 1 | g.15930541T>G | CA338613669 | SPEN | c.*5152T>G (n.*5152T>G) c.4301T>G (p.Phe1434Cys) | |
| 1 | g.15930542T>A | CA338613672 | SPEN | c.*5153T>A (n.*5153T>A) c.4302T>A (p.Phe1434Leu) | |
| 1 | g.15930542T>C | CA416380295 | SPEN | c.*5153T>C (n.*5153T>C) c.4302T>C (p.Phe1434=) | dbSNP gnomAD v4 |
| 1 | g.15930542T>G | CA338613675 | SPEN | c.*5153T>G (n.*5153T>G) c.4302T>G (p.Phe1434Leu) | |
| 1 | g.15930542T= | CA1155574110 | SPEN | c.*5153T= (n.*5153T=) c.4302T= (p.Phe1434=) | |
| 1 | g.15930543G>A | CA338613679 | SPEN | c.*5154G>A (n.*5154G>A) c.4303G>A (p.Ala1435Thr) | |
| 1 | g.15930543G>C | CA338613682 | SPEN | c.*5154G>C (n.*5154G>C) c.4303G>C (p.Ala1435Pro) | |
| 1 | g.15930543G>T | CA338613685 | SPEN | c.*5154G>T (n.*5154G>T) c.4303G>T (p.Ala1435Ser) | |
| 1 | g.15930544C>A | CA338613688 | SPEN | c.*5155C>A (n.*5155C>A) c.4304C>A (p.Ala1435Glu) | |
| 1 | g.15930544C= | CA1155574116 | SPEN | c.*5155C= (n.*5155C=) c.4304C= (p.Ala1435=) | |
| 1 | g.15930544C>G | CA338613689 | SPEN | c.*5155C>G (n.*5155C>G) c.4304C>G (p.Ala1435Gly) | |
| 1 | g.15930544C>T | CA338613692 | SPEN | c.*5155C>T (n.*5155C>T) c.4304C>T (p.Ala1435Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930545A>C | CA416380297 | SPEN | c.*5156A>C (n.*5156A>C) c.4305A>C (p.Ala1435=) | |
| 1 | g.15930545A>G | CA416380298 | SPEN | c.*5156A>G (n.*5156A>G) c.4305A>G (p.Ala1435=) | gnomAD v4 |
| 1 | g.15930545A>T | CA416380299 | SPEN | c.*5156A>T (n.*5156A>T) c.4305A>T (p.Ala1435=) | |
| 1 | g.15930546T>A | CA338613695 | SPEN | c.*5157T>A (n.*5157T>A) c.4306T>A (p.Leu1436Met) | |
| 1 | g.15930546T>C | CA416380300 | SPEN | c.*5157T>C (n.*5157T>C) c.4306T>C (p.Leu1436=) | |
| 1 | g.15930546T>G | CA338613697 | SPEN | c.*5157T>G (n.*5157T>G) c.4306T>G (p.Leu1436Val) | |
| 1 | g.15930547T>A | CA338613701 | SPEN | c.*5158T>A (n.*5158T>A) c.4307T>A (p.Leu1436Ter) | |
| 1 | g.15930547T>C | CA338613705 | SPEN | c.*5158T>C (n.*5158T>C) c.4307T>C (p.Leu1436Ser) | |
| 1 | g.15930547T>G | CA338613708 | SPEN | c.*5158T>G (n.*5158T>G) c.4307T>G (p.Leu1436Trp) | |
| 1 | g.15930548G>A | CA619564 | SPEN | c.*5159G>A (n.*5159G>A) c.4308G>A (p.Leu1436=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930548G>C | CA338613713 | SPEN | c.*5159G>C (n.*5159G>C) c.4308G>C (p.Leu1436Phe) | |
| 1 | g.15930548G= | CA1155574119 | SPEN | c.*5159G= (n.*5159G=) c.4308G= (p.Leu1436=) | |
| 1 | g.15930548G>T | CA338613715 | SPEN | c.*5159G>T (n.*5159G>T) c.4308G>T (p.Leu1436Phe) | |
| 1 | g.15930549G>A | CA338613717 | SPEN | c.*5160G>A (n.*5160G>A) c.4309G>A (p.Asp1437Asn) | |
| 1 | g.15930549G>C | CA338613718 | SPEN | c.*5160G>C (n.*5160G>C) c.4309G>C (p.Asp1437His) | COSMIC |
| 1 | g.15930549G= | CA1155574122 | SPEN | c.*5160G= (n.*5160G=) c.4309G= (p.Asp1437=) | |
| 1 | g.15930549G>T | CA338613720 | SPEN | c.*5160G>T (n.*5160G>T) c.4309G>T (p.Asp1437Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930550A= | CA1155574125 | SPEN | c.*5161A= (n.*5161A=) c.4310A= (p.Asp1437=) | |
| 1 | g.15930550A>C | CA338613721 | SPEN | c.*5161A>C (n.*5161A>C) c.4310A>C (p.Asp1437Ala) | |
| 1 | g.15930550A>G | CA338613724 | SPEN | c.*5161A>G (n.*5161A>G) c.4310A>G (p.Asp1437Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930550A>T | CA338613725 | SPEN | c.*5161A>T (n.*5161A>T) c.4310A>T (p.Asp1437Val) | |
| 1 | g.15930551T>A | CA338613730 | SPEN | c.*5162T>A (n.*5162T>A) c.4311T>A (p.Asp1437Glu) | |
| 1 | g.15930551T>C | CA416380303 | SPEN | c.*5162T>C (n.*5162T>C) c.4311T>C (p.Asp1437=) | |
| 1 | g.15930551T>G | CA338613728 | SPEN | c.*5162T>G (n.*5162T>G) c.4311T>G (p.Asp1437Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930551T= | CA1155574126 | SPEN | c.*5162T= (n.*5162T=) c.4311T= (p.Asp1437=) | |
| 1 | g.15930552A>C | CA338613732 | SPEN | c.*5163A>C (n.*5163A>C) c.4312A>C (p.Lys1438Gln) | |
| 1 | g.15930552A>G | CA338613735 | SPEN | c.*5163A>G (n.*5163A>G) c.4312A>G (p.Lys1438Glu) | |
| 1 | g.15930552A>T | CA338613737 | SPEN | c.*5163A>T (n.*5163A>T) c.4312A>T (p.Lys1438Ter) | |
| 1 | g.15930553A>C | CA338613741 | SPEN | c.*5164A>C (n.*5164A>C) c.4313A>C (p.Lys1438Thr) | |
| 1 | g.15930553A>G | CA338613742 | SPEN | c.*5164A>G (n.*5164A>G) c.4313A>G (p.Lys1438Arg) | |
| 1 | g.15930553A>T | CA338613743 | SPEN | c.*5164A>T (n.*5164A>T) c.4313A>T (p.Lys1438Met) | |
| 1 | g.15930554G>A | CA416380307 | SPEN | c.*5165G>A (n.*5165G>A) c.4314G>A (p.Lys1438=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930554G>C | CA338613746 | SPEN | c.*5165G>C (n.*5165G>C) c.4314G>C (p.Lys1438Asn) | |
| 1 | g.15930554G= | CA1155574127 | SPEN | c.*5165G= (n.*5165G=) c.4314G= (p.Lys1438=) | |
| 1 | g.15930554G>T | CA338613749 | SPEN | c.*5165G>T (n.*5165G>T) c.4314G>T (p.Lys1438Asn) | |
| 1 | g.15930555A>C | CA338613752 | SPEN | c.*5166A>C (n.*5166A>C) c.4315A>C (p.Thr1439Pro) | |
| 1 | g.15930555A>G | CA338613754 | SPEN | c.*5166A>G (n.*5166A>G) c.4315A>G (p.Thr1439Ala) | |
| 1 | g.15930555A>T | CA338613756 | SPEN | c.*5166A>T (n.*5166A>T) c.4315A>T (p.Thr1439Ser) | |
| 1 | g.15930556C>A | CA338613759 | SPEN | c.*5167C>A (n.*5167C>A) c.4316C>A (p.Thr1439Lys) | |
| 1 | g.15930556C>G | CA338613761 | SPEN | c.*5167C>G (n.*5167C>G) c.4316C>G (p.Thr1439Arg) | |
| 1 | g.15930556C>T | CA338613763 | SPEN | c.*5167C>T (n.*5167C>T) c.4316C>T (p.Thr1439Ile) | |
| 1 | g.15930557A>C | CA416380316 | SPEN | c.*5168A>C (n.*5168A>C) c.4317A>C (p.Thr1439=) | |
| 1 | g.15930557A>G | CA416380317 | SPEN | c.*5168A>G (n.*5168A>G) c.4317A>G (p.Thr1439=) | |
| 1 | g.15930557A>T | CA416380314 | SPEN | c.*5168A>T (n.*5168A>T) c.4317A>T (p.Thr1439=) | |
| 1 | g.15930558A= | CA1144133558 | SPEN | c.*5169A= (n.*5169A=) c.4318A= (p.Ile1440=) | |
| 1 | g.15930558A>C | CA338613770 | SPEN | c.*5169A>C (n.*5169A>C) c.4318A>C (p.Ile1440Leu) | |
| 1 | g.15930558A>G | CA619565 | SPEN | c.*5169A>G (n.*5169A>G) c.4318A>G (p.Ile1440Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930558A>T | CA338613766 | SPEN | c.*5169A>T (n.*5169A>T) c.4318A>T (p.Ile1440Phe) | |
| 1 | g.15930559T>A | CA338613772 | SPEN | c.*5170T>A (n.*5170T>A) c.4319T>A (p.Ile1440Asn) | |
| 1 | g.15930559T>C | CA338613775 | SPEN | c.*5170T>C (n.*5170T>C) c.4319T>C (p.Ile1440Thr) | |
| 1 | g.15930559T>G | CA338613777 | SPEN | c.*5170T>G (n.*5170T>G) c.4319T>G (p.Ile1440Ser) | |
| 1 | g.15930560C>A | CA416380319 | SPEN | c.*5171C>A (n.*5171C>A) c.4320C>A (p.Ile1440=) | |
| 1 | g.15930560C>G | CA338613781 | SPEN | c.*5171C>G (n.*5171C>G) c.4320C>G (p.Ile1440Met) | |
| 1 | g.15930560C>T | CA416380320 | SPEN | c.*5171C>T (n.*5171C>T) c.4320C>T (p.Ile1440=) | |
| 1 | g.15930561A>C | CA338613784 | SPEN | c.*5172A>C (n.*5172A>C) c.4321A>C (p.Thr1441Pro) | |
| 1 | g.15930561A>G | CA338613785 | SPEN | c.*5172A>G (n.*5172A>G) c.4321A>G (p.Thr1441Ala) | |
| 1 | g.15930561A>T | CA338613787 | SPEN | c.*5172A>T (n.*5172A>T) c.4321A>T (p.Thr1441Ser) | |
| 1 | g.15930562C>A | CA338613791 | SPEN | c.*5173C>A (n.*5173C>A) c.4322C>A (p.Thr1441Lys) | |
| 1 | g.15930562C>G | CA338613793 | SPEN | c.*5173C>G (n.*5173C>G) c.4322C>G (p.Thr1441Arg) | |
| 1 | g.15930562C>T | CA338613795 | SPEN | c.*5173C>T (n.*5173C>T) c.4322C>T (p.Thr1441Ile) | |
| 1 | g.15930563A= | CA1155574133 | SPEN | c.*5174A= (n.*5174A=) c.4323A= (p.Thr1441=) | |
| 1 | g.15930563A>C | CA619566 | SPEN | c.*5174A>C (n.*5174A>C) c.4323A>C (p.Thr1441=) | dbSNP ExAC gnomAD v2 |
| 1 | g.15930563A>G | CA416380322 | SPEN | c.*5174A>G (n.*5174A>G) c.4323A>G (p.Thr1441=) | |
| 1 | g.15930563A>T | CA416380323 | SPEN | c.*5174A>T (n.*5174A>T) c.4323A>T (p.Thr1441=) | |
| 1 | g.15930564C>A | CA338613796 | SPEN | c.*5175C>A (n.*5175C>A) c.4324C>A (p.Pro1442Thr) | |
| 1 | g.15930564C= | CA1155574142 | SPEN | c.*5175C= (n.*5175C=) c.4324C= (p.Pro1442=) | |
| 1 | g.15930564C>G | CA338613797 | SPEN | c.*5175C>G (n.*5175C>G) c.4324C>G (p.Pro1442Ala) | |
| 1 | g.15930564C>T | CA338613798 | SPEN | c.*5175C>T (n.*5175C>T) c.4324C>T (p.Pro1442Ser) | |
| 1 | g.15930564_15930565insAAAAGATGTAGATGAATATGAAAGA | CA619567 | SPEN | c.*5175_*5176insAAAAGATGTAGATGAATATGAAAGA (n.*5175_*5176insAAAAGATGTAGATGAATATGAAAGA) c.4324_4325insAAAAGATGTAGATGAATATGAAAGA (p.Pro1442GlnfsTer4) | dbSNP ExAC |
| 1 | g.15930565C>A | CA338613800 | SPEN | c.*5176C>A (n.*5176C>A) c.4325C>A (p.Pro1442Gln) | |
| 1 | g.15930565C= | CA1155574143 | SPEN | c.*5176C= (n.*5176C=) c.4325C= (p.Pro1442=) | |
| 1 | g.15930565C>G | CA338613801 | SPEN | c.*5176C>G (n.*5176C>G) c.4325C>G (p.Pro1442Arg) | |
| 1 | g.15930565C>T | CA338613799 | SPEN | c.*5176C>T (n.*5176C>T) c.4325C>T (p.Pro1442Leu) | |
| 1 | g.15930565_15930566insGT | CA619568 | SPEN | c.*5176_*5177insGT (n.*5176_*5177insGT) c.4325_4326insGT (p.Asp1443Ter) | dbSNP ExAC |
| 1 | g.15930566A>C | CA416380326 | SPEN | c.*5177A>C (n.*5177A>C) c.4326A>C (p.Pro1442=) | |
| 1 | g.15930566A>G | CA416380327 | SPEN | c.*5177A>G (n.*5177A>G) c.4326A>G (p.Pro1442=) | |
| 1 | g.15930566A>T | CA416380328 | SPEN | c.*5177A>T (n.*5177A>T) c.4326A>T (p.Pro1442=) | |
| 1 | g.15930567G>A | CA338613802 | SPEN | c.*5178G>A (n.*5178G>A) c.4327G>A (p.Asp1443Asn) | |
| 1 | g.15930567G>C | CA338613803 | SPEN | c.*5178G>C (n.*5178G>C) c.4327G>C (p.Asp1443His) | |
| 1 | g.15930567G>T | CA338613804 | SPEN | c.*5178G>T (n.*5178G>T) c.4327G>T (p.Asp1443Tyr) | |
| 1 | g.15930568A>C | CA338613807 | SPEN | c.*5179A>C (n.*5179A>C) c.4328A>C (p.Asp1443Ala) | |
| 1 | g.15930568A>G | CA338613806 | SPEN | c.*5179A>G (n.*5179A>G) c.4328A>G (p.Asp1443Gly) | |
| 1 | g.15930568A>T | CA338613805 | SPEN | c.*5179A>T (n.*5179A>T) c.4328A>T (p.Asp1443Val) | |
| 1 | g.15930569C>A | CA338613808 | SPEN | c.*5180C>A (n.*5180C>A) c.4329C>A (p.Asp1443Glu) | |
| 1 | g.15930569C= | CA1155574148 | SPEN | c.*5180C= (n.*5180C=) c.4329C= (p.Asp1443=) | |
| 1 | g.15930569C>G | CA338613809 | SPEN | c.*5180C>G (n.*5180C>G) c.4329C>G (p.Asp1443Glu) | |
| 1 | g.15930569C>T | CA619569 | SPEN | c.*5180C>T (n.*5180C>T) c.4329C>T (p.Asp1443=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930570A>C | CA338613810 | SPEN | c.*5181A>C (n.*5181A>C) c.4330A>C (p.Thr1444Pro) | gnomAD v4 |
| 1 | g.15930570A>G | CA338613811 | SPEN | c.*5181A>G (n.*5181A>G) c.4330A>G (p.Thr1444Ala) | |
| 1 | g.15930570A>T | CA338613812 | SPEN | c.*5181A>T (n.*5181A>T) c.4330A>T (p.Thr1444Ser) | |
| 1 | g.15930571C>A | CA338613813 | SPEN | c.*5182C>A (n.*5182C>A) c.4331C>A (p.Thr1444Asn) | |
| 1 | g.15930571C>G | CA338613815 | SPEN | c.*5182C>G (n.*5182C>G) c.4331C>G (p.Thr1444Ser) | |
| 1 | g.15930571C>T | CA338613814 | SPEN | c.*5182C>T (n.*5182C>T) c.4331C>T (p.Thr1444Ile) | |
| 1 | g.15930572T>A | CA416380333 | SPEN | c.*5183T>A (n.*5183T>A) c.4332T>A (p.Thr1444=) | |
| 1 | g.15930572T>C | CA416380337 | SPEN | c.*5183T>C (n.*5183T>C) c.4332T>C (p.Thr1444=) | |
| 1 | g.15930572T>G | CA416380335 | SPEN | c.*5183T>G (n.*5183T>G) c.4332T>G (p.Thr1444=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930572T= | CA1155574150 | SPEN | c.*5183T= (n.*5183T=) c.4332T= (p.Thr1444=) | |
| 1 | g.15930573A>C | CA338613816 | SPEN | c.*5184A>C (n.*5184A>C) c.4333A>C (p.Lys1445Gln) | |
| 1 | g.15930573A>G | CA338613817 | SPEN | c.*5184A>G (n.*5184A>G) c.4333A>G (p.Lys1445Glu) | |
| 1 | g.15930573A>T | CA338613818 | SPEN | c.*5184A>T (n.*5184A>T) c.4333A>T (p.Lys1445Ter) | |
| 1 | g.15930574A>C | CA338613819 | SPEN | c.*5185A>C (n.*5185A>C) c.4334A>C (p.Lys1445Thr) | |
| 1 | g.15930574A>G | CA338613820 | SPEN | c.*5185A>G (n.*5185A>G) c.4334A>G (p.Lys1445Arg) | |
| 1 | g.15930574A>T | CA338613821 | SPEN | c.*5185A>T (n.*5185A>T) c.4334A>T (p.Lys1445Ile) | |
| 1 | g.15930575A>C | CA338613822 | SPEN | c.*5186A>C (n.*5186A>C) c.4335A>C (p.Lys1445Asn) | |
| 1 | g.15930575A>G | CA416380338 | SPEN | c.*5186A>G (n.*5186A>G) c.4335A>G (p.Lys1445=) | |
| 1 | g.15930575A>T | CA338613823 | SPEN | c.*5186A>T (n.*5186A>T) c.4335A>T (p.Lys1445Asn) | |
| 1 | g.15930576G>A | CA338613824 | SPEN | c.*5187G>A (n.*5187G>A) c.4336G>A (p.Ala1446Thr) | |
| 1 | g.15930576G>C | CA338613825 | SPEN | c.*5187G>C (n.*5187G>C) c.4336G>C (p.Ala1446Pro) | |
| 1 | g.15930576G>T | CA338613826 | SPEN | c.*5187G>T (n.*5187G>T) c.4336G>T (p.Ala1446Ser) | |
| 1 | g.15930577C>A | CA338613827 | SPEN | c.*5188C>A (n.*5188C>A) c.4337C>A (p.Ala1446Asp) | |
| 1 | g.15930577C>G | CA338613830 | SPEN | c.*5188C>G (n.*5188C>G) c.4337C>G (p.Ala1446Gly) | gnomAD v4 |
| 1 | g.15930577C>T | CA338613829 | SPEN | c.*5188C>T (n.*5188C>T) c.4337C>T (p.Ala1446Val) | |
| 1 | g.15930578T>A | CA416380341 | SPEN | c.*5189T>A (n.*5189T>A) c.4338T>A (p.Ala1446=) | |
| 1 | g.15930578T>C | CA416380342 | SPEN | c.*5189T>C (n.*5189T>C) c.4338T>C (p.Ala1446=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930578T>G | CA416380343 | SPEN | c.*5189T>G (n.*5189T>G) c.4338T>G (p.Ala1446=) | |
| 1 | g.15930578T= | CA1155574154 | SPEN | c.*5189T= (n.*5189T=) c.4338T= (p.Ala1446=) | |
| 1 | g.15930579T>A | CA338613834 | SPEN | c.*5190T>A (n.*5190T>A) c.4339T>A (p.Leu1447Met) | |
| 1 | g.15930579T>C | CA416380344 | SPEN | c.*5190T>C (n.*5190T>C) c.4339T>C (p.Leu1447=) | |
| 1 | g.15930579T>G | CA338613836 | SPEN | c.*5190T>G (n.*5190T>G) c.4339T>G (p.Leu1447Val) | |
| 1 | g.15930580T>A | CA338613838 | SPEN | c.*5191T>A (n.*5191T>A) c.4340T>A (p.Leu1447Ter) | |
| 1 | g.15930580T>C | CA338613840 | SPEN | c.*5191T>C (n.*5191T>C) c.4340T>C (p.Leu1447Ser) | |
| 1 | g.15930580T>G | CA338613842 | SPEN | c.*5191T>G (n.*5191T>G) c.4340T>G (p.Leu1447Trp) | |
| 1 | g.15930581G>A | CA416380349 | SPEN | c.*5192G>A (n.*5192G>A) c.4341G>A (p.Leu1447=) | |
| 1 | g.15930581G>C | CA338613845 | SPEN | c.*5192G>C (n.*5192G>C) c.4341G>C (p.Leu1447Phe) | |
| 1 | g.15930581G>T | CA338613847 | SPEN | c.*5192G>T (n.*5192G>T) c.4341G>T (p.Leu1447Phe) | |
| 1 | g.15930582C>A | CA338613849 | SPEN | c.*5193C>A (n.*5193C>A) c.4342C>A (p.Leu1448Ile) | |
| 1 | g.15930582C>G | CA338613851 | SPEN | c.*5193C>G (n.*5193C>G) c.4342C>G (p.Leu1448Val) | |
| 1 | g.15930582C>T | CA338613853 | SPEN | c.*5193C>T (n.*5193C>T) c.4342C>T (p.Leu1448Phe) | |
| 1 | g.15930583T>A | CA338613858 | SPEN | c.*5194T>A (n.*5194T>A) c.4343T>A (p.Leu1448His) | |
| 1 | g.15930583T>C | CA338613859 | SPEN | c.*5194T>C (n.*5194T>C) c.4343T>C (p.Leu1448Pro) | |
| 1 | g.15930583T>G | CA338613860 | SPEN | c.*5194T>G (n.*5194T>G) c.4343T>G (p.Leu1448Arg) | |
| 1 | g.15930584T>A | CA416380350 | SPEN | c.*5195T>A (n.*5195T>A) c.4344T>A (p.Leu1448=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930584T>C | CA416380352 | SPEN | c.*5195T>C (n.*5195T>C) c.4344T>C (p.Leu1448=) | |
| 1 | g.15930584T>G | CA416380353 | SPEN | c.*5195T>G (n.*5195T>G) c.4344T>G (p.Leu1448=) | |
| 1 | g.15930584T= | CA1155574160 | SPEN | c.*5195T= (n.*5195T=) c.4344T= (p.Leu1448=) |