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 |
|---|---|---|---|---|---|
| 12 | g.121847015C>T | CA2621466424 | HPD | c.759+37G>A (n.759+37G>A) c.642+37G>A (n.642+37G>A) | gnomAD v4 |
| 12 | g.121847016C>A | CA2068078202 | HPD | c.759+36G>T (n.759+36G>T) c.642+36G>T (n.642+36G>T) | dbSNP gnomAD v4 |
| 12 | g.121847016C= | CA2068078185 | HPD | c.759+36G= (n.759+36G=) c.642+36G= (n.642+36G=) | |
| 12 | g.121847016C>T | CA6839554 | HPD | c.759+36G>A (n.759+36G>A) c.642+36G>A (n.642+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847017C>T | CA2621466425 | HPD | c.759+35G>A (n.759+35G>A) c.642+35G>A (n.642+35G>A) | gnomAD v4 |
| 12 | g.121847019G>C | CA607929863 | HPD | c.759+33C>G (n.759+33C>G) c.642+33C>G (n.642+33C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847019G= | CA2068078208 | HPD | c.759+33C= (n.759+33C=) c.642+33C= (n.642+33C=) | |
| 12 | g.121847020C= | CA2068078218 | HPD | c.759+32G= (n.759+32G=) c.642+32G= (n.642+32G=) | |
| 12 | g.121847020C>G | CA6839555 | HPD | c.759+32G>C (n.759+32G>C) c.642+32G>C (n.642+32G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847021T>A | CA6839556 | HPD | c.759+31A>T (n.759+31A>T) c.642+31A>T (n.642+31A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847021T= | CA2068078221 | HPD | c.759+31A= (n.759+31A=) c.642+31A= (n.642+31A=) | |
| 12 | g.121847022C= | CA2068078225 | HPD | c.759+30G= (n.759+30G=) c.642+30G= (n.642+30G=) | |
| 12 | g.121847022C>G | CA6839557 | HPD | c.759+30G>C (n.759+30G>C) c.642+30G>C (n.642+30G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847023C= | CA2068078227 | HPD | c.759+29G= (n.759+29G=) c.642+29G= (n.642+29G=) | |
| 12 | g.121847023C>T | CA607929864 | HPD | c.759+29G>A (n.759+29G>A) c.642+29G>A (n.642+29G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847024C= | CA2068078229 | HPD | c.759+28G= (n.759+28G=) c.642+28G= (n.642+28G=) | |
| 12 | g.121847024C>T | CA952641999 | HPD | c.759+28G>A (n.759+28G>A) c.642+28G>A (n.642+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847025C>G | CA2621466426 | HPD | c.759+27G>C (n.759+27G>C) c.642+27G>C (n.642+27G>C) | gnomAD v4 |
| 12 | g.121847027C>A | CA2621466427 | HPD | c.759+25G>T (n.759+25G>T) c.642+25G>T (n.642+25G>T) | gnomAD v4 |
| 12 | g.121847027C>G | CA2621466428 | HPD | c.759+25G>C (n.759+25G>C) c.642+25G>C (n.642+25G>C) | gnomAD v4 |
| 12 | g.121847028T>A | CA2621466429 | HPD | c.759+24A>T (n.759+24A>T) c.642+24A>T (n.642+24A>T) | gnomAD v4 |
| 12 | g.121847028_121847029delinsTC | CA2068078232 | HPD | c.759+23_759+24delinsGA (n.759+23_759+24delinsGA) c.642+23_642+24delinsGA (n.642+23_642+24delinsGA) | |
| 12 | g.121847029C= | CA2068078235 | HPD | c.759+23G= (n.759+23G=) c.642+23G= (n.642+23G=) | |
| 12 | g.121847029C>T | CA6839558 | HPD | c.759+23G>A (n.759+23G>A) c.642+23G>A (n.642+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847033del | CA919192419 | HPD | c.759+23del (n.759+23del) c.642+23del (n.642+23del) | dbSNP |
| 12 | g.121847030C= | CA2068078237 | HPD | c.759+22G= (n.759+22G=) c.642+22G= (n.642+22G=) | |
| 12 | g.121847030C>T | CA6839559 | HPD | c.759+22G>A (n.759+22G>A) c.642+22G>A (n.642+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847031C>T | CA2621466430 | HPD | c.759+21G>A (n.759+21G>A) c.642+21G>A (n.642+21G>A) | gnomAD v4 |
| 12 | g.121847032C>A | CA2575327707 | HPD | c.759+20G>T (n.759+20G>T) c.642+20G>T (n.642+20G>T) | |
| 12 | g.121847033C>A | CA6839560 | HPD | c.759+19G>T (n.759+19G>T) c.642+19G>T (n.642+19G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847033C= | CA2068078244 | HPD | c.759+19G= (n.759+19G=) c.642+19G= (n.642+19G=) | |
| 12 | g.121847033C>G | CA2575327711 | HPD | c.759+19G>C (n.759+19G>C) c.642+19G>C (n.642+19G>C) | ClinVar |
| 12 | g.121847033C>T | CA6839561 | HPD | c.759+19G>A (n.759+19G>A) c.642+19G>A (n.642+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847034A>G | CA2621466431 | HPD | c.759+18T>C (n.759+18T>C) c.642+18T>C (n.642+18T>C) | gnomAD v4 |
| 12 | g.121847035G>A | CA2740097600 | HPD | c.759+17C>T (n.759+17C>T) c.642+17C>T (n.642+17C>T) | ClinVar |
| 12 | g.121847038del | CA2575327713 | HPD | c.759+14del (n.759+14del) c.642+14del (n.642+14del) | |
| 12 | g.121847038A>G | CA2621466432 | HPD | c.759+14T>C (n.759+14T>C) c.642+14T>C (n.642+14T>C) | gnomAD v4 |
| 12 | g.121847039G>A | CA2621466433 | HPD | c.759+13C>T (n.759+13C>T) c.642+13C>T (n.642+13C>T) | gnomAD v4 |
| 12 | g.121847040G>A | CA2575327715 | HPD | c.759+12C>T (n.759+12C>T) c.642+12C>T (n.642+12C>T) | ClinVar gnomAD v4 |
| 12 | g.121847040G>C | CA2621466434 | HPD | c.759+12C>G (n.759+12C>G) c.642+12C>G (n.642+12C>G) | gnomAD v4 |
| 12 | g.121847040G>T | CA2575327716 | HPD | c.759+12C>A (n.759+12C>A) c.642+12C>A (n.642+12C>A) | |
| 12 | g.121847041G>A | CA2727372855 | HPD | c.759+11C>T (n.759+11C>T) c.642+11C>T (n.642+11C>T) | dbSNP |
| 12 | g.121847041G>T | CA2621466435 | HPD | c.759+11C>A (n.759+11C>A) c.642+11C>A (n.642+11C>A) | gnomAD v4 |
| 12 | g.121847043C= | CA2068078245 | HPD | c.759+9G= (n.759+9G=) c.642+9G= (n.642+9G=) | |
| 12 | g.121847043C>G | CA2740097601 | HPD | c.759+9G>C (n.759+9G>C) c.642+9G>C (n.642+9G>C) | ClinVar |
| 12 | g.121847043C>T | CA6839562 | HPD | c.759+9G>A (n.759+9G>A) c.642+9G>A (n.642+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847044G>A | CA6839563 | HPD | c.759+8C>T (n.759+8C>T) c.642+8C>T (n.642+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847044G= | CA2068078251 | HPD | c.759+8C= (n.759+8C=) c.642+8C= (n.642+8C=) | |
| 12 | g.121847044G>T | CA2797754726 | HPD | c.759+8C>A (n.759+8C>A) c.642+8C>A (n.642+8C>A) | |
| 12 | g.121847046C= | CA2068078256 | HPD | c.759+6G= (n.759+6G=) c.642+6G= (n.642+6G=) | |
| 12 | g.121847046C>T | CA2068078257 | HPD | c.759+6G>A (n.759+6G>A) c.642+6G>A (n.642+6G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847049C= | CA2068078260 | HPD | c.759+3G= (n.759+3G=) c.642+3G= (n.642+3G=) | |
| 12 | g.121847049C>T | CA6839564 | HPD | c.759+3G>A (n.759+3G>A) c.642+3G>A (n.642+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847050A>C | CA387013185 | HPD | c.759+2T>G (n.759+2T>G) c.642+2T>G (n.642+2T>G) | |
| 12 | g.121847050A>G | CA387013180 | HPD | c.759+2T>C (n.759+2T>C) c.642+2T>C (n.642+2T>C) | |
| 12 | g.121847050A>T | CA387013186 | HPD | c.759+2T>A (n.759+2T>A) c.642+2T>A (n.642+2T>A) | |
| 12 | g.121847051C>A | CA387013187 | HPD | c.759+1G>T (n.759+1G>T) c.642+1G>T (n.642+1G>T) | |
| 12 | g.121847051C>G | CA387013191 | HPD | c.759+1G>C (n.759+1G>C) c.642+1G>C (n.642+1G>C) | |
| 12 | g.121847051C>T | CA387013195 | HPD | c.759+1G>A (n.759+1G>A) c.642+1G>A (n.642+1G>A) | gnomAD v4 |
| 12 | g.121847052C>A | CA387013196 | HPD | c.759G>T (p.Gln253His) c.642G>T (p.Gln214His) | |
| 12 | g.121847052C>G | CA387013197 | HPD | c.759G>C (p.Gln253His) c.642G>C (p.Gln214His) | |
| 12 | g.121847052C>T | CA482193457 | HPD | c.759G>A (p.Gln253=) c.642G>A (p.Gln214=) | |
| 12 | g.121847053T>A | CA387013198 | HPD | c.758A>T (p.Gln253Leu) c.641A>T (p.Gln214Leu) | |
| 12 | g.121847053T>C | CA387013202 | HPD | c.758A>G (p.Gln253Arg) c.641A>G (p.Gln214Arg) | |
| 12 | g.121847053T>G | CA244671359 | HPD | c.758A>C (p.Gln253Pro) c.641A>C (p.Gln214Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847053T= | CA2068078265 | HPD | c.758A= (p.Gln253=) c.641A= (p.Gln214=) | |
| 12 | g.121847054G>A | CA387013208 | HPD | c.757C>T (p.Gln253Ter) c.640C>T (p.Gln214Ter) | |
| 12 | g.121847054G>C | CA387013210 | HPD | c.757C>G (p.Gln253Glu) c.640C>G (p.Gln214Glu) | gnomAD v4 |
| 12 | g.121847054G>T | CA387013213 | HPD | c.757C>A (p.Gln253Lys) c.640C>A (p.Gln214Lys) | |
| 12 | g.121847055G>A | CA482193458 | HPD | c.756C>T (p.Ile252=) c.639C>T (p.Ile213=) | |
| 12 | g.121847055G>C | CA387013217 | HPD | c.756C>G (p.Ile252Met) c.639C>G (p.Ile213Met) | |
| 12 | g.121847055G= | CA2068078269 | HPD | c.756C= (p.Ile252=) c.639C= (p.Ile213=) | |
| 12 | g.121847055G>T | CA6839565 | HPD | c.756C>A (p.Ile252=) c.639C>A (p.Ile213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847056A>C | CA387013234 | HPD | c.755T>G (p.Ile252Ser) c.638T>G (p.Ile213Ser) | |
| 12 | g.121847056A>G | CA387013225 | HPD | c.755T>C (p.Ile252Thr) c.638T>C (p.Ile213Thr) | |
| 12 | g.121847056A>T | CA387013231 | HPD | c.755T>A (p.Ile252Asn) c.638T>A (p.Ile213Asn) | |
| 12 | g.121847057T>A | CA387013237 | HPD | c.754A>T (p.Ile252Phe) c.637A>T (p.Ile213Phe) | |
| 12 | g.121847057T>C | CA387013239 | HPD | c.754A>G (p.Ile252Val) c.637A>G (p.Ile213Val) | |
| 12 | g.121847057T>G | CA387013242 | HPD | c.754A>C (p.Ile252Leu) c.637A>C (p.Ile213Leu) | |
| 12 | g.121847058C>A | CA387013254 | HPD | c.753G>T (p.Gln251His) c.636G>T (p.Gln212His) | |
| 12 | g.121847058C= | CA2068078280 | HPD | c.753G= (p.Gln251=) c.636G= (p.Gln212=) | |
| 12 | g.121847058C>G | CA387013258 | HPD | c.753G>C (p.Gln251His) c.636G>C (p.Gln212His) | |
| 12 | g.121847058C>T | CA482193459 | HPD | c.753G>A (p.Gln251=) c.636G>A (p.Gln212=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847059T>A | CA387013273 | HPD | c.752A>T (p.Gln251Leu) c.635A>T (p.Gln212Leu) | |
| 12 | g.121847059T>C | CA387013274 | HPD | c.752A>G (p.Gln251Arg) c.635A>G (p.Gln212Arg) | |
| 12 | g.121847059T>G | CA387013275 | HPD | c.752A>C (p.Gln251Pro) c.635A>C (p.Gln212Pro) | |
| 12 | g.121847060G>A | CA387013278 | HPD | c.751C>T (p.Gln251Ter) c.634C>T (p.Gln212Ter) | |
| 12 | g.121847060G>C | CA387013282 | HPD | c.751C>G (p.Gln251Glu) c.634C>G (p.Gln212Glu) | |
| 12 | g.121847060G>T | CA387013283 | HPD | c.751C>A (p.Gln251Lys) c.634C>A (p.Gln212Lys) | |
| 12 | g.121847061G>A | CA482193460 | HPD | c.750C>T (p.Ser250=) c.633C>T (p.Ser211=) | |
| 12 | g.121847061G>C | CA482193461 | HPD | c.750C>G (p.Ser250=) c.633C>G (p.Ser211=) | |
| 12 | g.121847061G>T | CA482193462 | HPD | c.750C>A (p.Ser250=) c.633C>A (p.Ser211=) | dbSNP |
| 12 | g.121847062G>A | CA387013293 | HPD | c.749C>T (p.Ser250Phe) c.632C>T (p.Ser211Phe) | |
| 12 | g.121847062G>C | CA387013287 | HPD | c.749C>G (p.Ser250Cys) c.632C>G (p.Ser211Cys) | |
| 12 | g.121847062G>T | CA387013284 | HPD | c.749C>A (p.Ser250Tyr) c.632C>A (p.Ser211Tyr) | |
| 12 | g.121847063A>C | CA387013299 | HPD | c.748T>G (p.Ser250Ala) c.631T>G (p.Ser211Ala) | |
| 12 | g.121847063A>G | CA387013301 | HPD | c.748T>C (p.Ser250Pro) c.631T>C (p.Ser211Pro) | gnomAD v4 |
| 12 | g.121847063A>T | CA387013318 | HPD | c.748T>A (p.Ser250Thr) c.631T>A (p.Ser211Thr) | |
| 12 | g.121847063_121847066delinsACTT | CA2068078289 | HPD | c.745_748delinsAAGT (p.Lys249=) c.628_631delinsAAGT (p.Lys210=) | |
| 12 | g.121847064C>A | CA387013342 | HPD | c.747G>T (p.Lys249Asn) c.630G>T (p.Lys210Asn) | gnomAD v4 |
| 12 | g.121847064C>G | CA387013345 | HPD | c.747G>C (p.Lys249Asn) c.630G>C (p.Lys210Asn) | |
| 12 | g.121847064C>T | CA482193463 | HPD | c.747G>A (p.Lys249=) c.630G>A (p.Lys210=) | gnomAD v4 |
| 12 | g.121847070_121847072del | CA6839566 | HPD | c.745_747del (p.Lys249del) c.628_630del (p.Lys210del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847065T>A | CA387013360 | HPD | c.746A>T (p.Lys249Met) c.629A>T (p.Lys210Met) | |
| 12 | g.121847065T>C | CA387013354 | HPD | c.746A>G (p.Lys249Arg) c.629A>G (p.Lys210Arg) | |
| 12 | g.121847065T>G | CA387013357 | HPD | c.746A>C (p.Lys249Thr) c.629A>C (p.Lys210Thr) | |
| 12 | g.121847066T>A | CA387013364 | HPD | c.745A>T (p.Lys249Ter) c.628A>T (p.Lys210Ter) | |
| 12 | g.121847066T>C | CA387013366 | HPD | c.745A>G (p.Lys249Glu) c.628A>G (p.Lys210Glu) | |
| 12 | g.121847066T>G | CA387013367 | HPD | c.745A>C (p.Lys249Gln) c.628A>C (p.Lys210Gln) | |
| 12 | g.121847067C>A | CA387013373 | HPD | c.744G>T (p.Lys248Asn) c.627G>T (p.Lys209Asn) | |
| 12 | g.121847067C= | CA2068078296 | HPD | c.744G= (p.Lys248=) c.627G= (p.Lys209=) | |
| 12 | g.121847067C>G | CA387013374 | HPD | c.744G>C (p.Lys248Asn) c.627G>C (p.Lys209Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847067C>T | CA482193464 | HPD | c.744G>A (p.Lys248=) c.627G>A (p.Lys209=) | |
| 12 | g.121847068T>A | CA387013376 | HPD | c.743A>T (p.Lys248Met) c.626A>T (p.Lys209Met) | |
| 12 | g.121847068T>C | CA387013381 | HPD | c.743A>G (p.Lys248Arg) c.626A>G (p.Lys209Arg) | |
| 12 | g.121847068T>G | CA387013378 | HPD | c.743A>C (p.Lys248Thr) c.626A>C (p.Lys209Thr) | |
| 12 | g.121847069T>A | CA387013394 | HPD | c.742A>T (p.Lys248Ter) c.625A>T (p.Lys209Ter) | |
| 12 | g.121847069T>C | CA387013399 | HPD | c.742A>G (p.Lys248Glu) c.625A>G (p.Lys209Glu) | |
| 12 | g.121847069T>G | CA387013403 | HPD | c.742A>C (p.Lys248Gln) c.625A>C (p.Lys209Gln) | |
| 12 | g.121847070C>A | CA6839567 | HPD | c.741G>T (p.Lys247Asn) c.624G>T (p.Lys208Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847070C= | CA2068078301 | HPD | c.741G= (p.Lys247=) c.624G= (p.Lys208=) | |
| 12 | g.121847070C>G | CA387013412 | HPD | c.741G>C (p.Lys247Asn) c.624G>C (p.Lys208Asn) | |
| 12 | g.121847070C>T | CA482193465 | HPD | c.741G>A (p.Lys247=) c.624G>A (p.Lys208=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847071T>A | CA387013414 | HPD | c.740A>T (p.Lys247Met) c.623A>T (p.Lys208Met) | |
| 12 | g.121847071T>C | CA387013416 | HPD | c.740A>G (p.Lys247Arg) c.623A>G (p.Lys208Arg) | |
| 12 | g.121847071T>G | CA387013420 | HPD | c.740A>C (p.Lys247Thr) c.623A>C (p.Lys208Thr) | |
| 12 | g.121847072T>A | CA387013423 | HPD | c.739A>T (p.Lys247Ter) c.622A>T (p.Lys208Ter) | |
| 12 | g.121847072T>C | CA387013426 | HPD | c.739A>G (p.Lys247Glu) c.622A>G (p.Lys208Glu) | |
| 12 | g.121847072T>G | CA387013429 | HPD | c.739A>C (p.Lys247Gln) c.622A>C (p.Lys208Gln) | |
| 12 | g.121847073G>A | CA482193466 | HPD | c.738C>T (p.Gly246=) c.621C>T (p.Gly207=) | |
| 12 | g.121847073G>C | CA482193467 | HPD | c.738C>G (p.Gly246=) c.621C>G (p.Gly207=) | |
| 12 | g.121847073G>T | CA482193468 | HPD | c.738C>A (p.Gly246=) c.621C>A (p.Gly207=) | |
| 12 | g.121847074C>A | CA387013434 | HPD | c.737G>T (p.Gly246Val) c.620G>T (p.Gly207Val) | gnomAD v4 |
| 12 | g.121847074C>G | CA387013461 | HPD | c.737G>C (p.Gly246Ala) c.620G>C (p.Gly207Ala) | |
| 12 | g.121847074C>T | CA387013453 | HPD | c.737G>A (p.Gly246Asp) c.620G>A (p.Gly207Asp) | |
| 12 | g.121847075C>A | CA387013464 | HPD | c.736G>T (p.Gly246Cys) c.619G>T (p.Gly207Cys) | |
| 12 | g.121847075C>G | CA387013469 | HPD | c.736G>C (p.Gly246Arg) c.619G>C (p.Gly207Arg) | |
| 12 | g.121847075C>T | CA387013466 | HPD | c.736G>A (p.Gly246Ser) c.619G>A (p.Gly207Ser) | |
| 12 | g.121847076A>C | CA482193469 | HPD | c.735T>G (p.Pro245=) c.618T>G (p.Pro206=) | |
| 12 | g.121847076A>G | CA482193470 | HPD | c.735T>C (p.Pro245=) c.618T>C (p.Pro206=) | |
| 12 | g.121847076A>T | CA482193471 | HPD | c.735T>A (p.Pro245=) c.618T>A (p.Pro206=) | ClinVar |
| 12 | g.121847077G>A | CA387013474 | HPD | c.734C>T (p.Pro245Leu) c.617C>T (p.Pro206Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847077G>C | CA387013477 | HPD | c.734C>G (p.Pro245Arg) c.617C>G (p.Pro206Arg) | |
| 12 | g.121847077G= | CA2068078307 | HPD | c.734C= (p.Pro245=) c.617C= (p.Pro206=) | |
| 12 | g.121847077G>T | CA387013475 | HPD | c.734C>A (p.Pro245His) c.617C>A (p.Pro206His) | |
| 12 | g.121847078G>A | CA387013481 | HPD | c.733C>T (p.Pro245Ser) c.616C>T (p.Pro206Ser) | dbSNP |
| 12 | g.121847078G>C | CA387013485 | HPD | c.733C>G (p.Pro245Ala) c.616C>G (p.Pro206Ala) | |
| 12 | g.121847078G= | CA2068078309 | HPD | c.733C= (p.Pro245=) c.616C= (p.Pro206=) | |
| 12 | g.121847078G>T | CA387013486 | HPD | c.733C>A (p.Pro245Thr) c.616C>A (p.Pro206Thr) | |
| 12 | g.121847079C>A | CA482193474 | HPD | c.732G>T (p.Ala244=) c.615G>T (p.Ala205=) | ClinVar dbSNP |
| 12 | g.121847079C= | CA2068078316 | HPD | c.732G= (p.Ala244=) c.615G= (p.Ala205=) | |
| 12 | g.121847079C>G | CA482193472 | HPD | c.732G>C (p.Ala244=) c.615G>C (p.Ala205=) | |
| 12 | g.121847079C>T | CA482193473 | HPD | c.732G>A (p.Ala244=) c.615G>A (p.Ala205=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.121847080G>A | CA244671367 | HPD | c.731C>T (p.Ala244Val) c.614C>T (p.Ala205Val) | dbSNP gnomAD v4 COSMIC |
| 12 | g.121847080G>C | CA387013487 | HPD | c.731C>G (p.Ala244Gly) c.614C>G (p.Ala205Gly) | |
| 12 | g.121847080G= | CA2068078324 | HPD | c.731C= (p.Ala244=) c.614C= (p.Ala205=) | |
| 12 | g.121847080G>T | CA387013491 | HPD | c.731C>A (p.Ala244Glu) c.614C>A (p.Ala205Glu) | |
| 12 | g.121847081C>A | CA387013498 | HPD | c.730G>T (p.Ala244Ser) c.613G>T (p.Ala205Ser) | |
| 12 | g.121847081C>G | CA387013500 | HPD | c.730G>C (p.Ala244Pro) c.613G>C (p.Ala205Pro) | |
| 12 | g.121847081C>T | CA387013502 | HPD | c.730G>A (p.Ala244Thr) c.613G>A (p.Ala205Thr) | |
| 12 | g.121847082T>A | CA482193475 | HPD | c.729A>T (p.Pro243=) c.612A>T (p.Pro204=) | |
| 12 | g.121847082T>C | CA482193476 | HPD | c.729A>G (p.Pro243=) c.612A>G (p.Pro204=) | gnomAD v4 |
| 12 | g.121847082T>G | CA482193477 | HPD | c.729A>C (p.Pro243=) c.612A>C (p.Pro204=) | |
| 12 | g.121847083G>A | CA387013505 | HPD | c.728C>T (p.Pro243Leu) c.611C>T (p.Pro204Leu) | |
| 12 | g.121847083G>C | CA387013508 | HPD | c.728C>G (p.Pro243Arg) c.611C>G (p.Pro204Arg) | |
| 12 | g.121847083G>T | CA387013514 | HPD | c.728C>A (p.Pro243Gln) c.611C>A (p.Pro204Gln) | |
| 12 | g.121847084G>A | CA387013520 | HPD | c.727C>T (p.Pro243Ser) c.610C>T (p.Pro204Ser) | |
| 12 | g.121847084G>C | CA387013518 | HPD | c.727C>G (p.Pro243Ala) c.610C>G (p.Pro204Ala) | |
| 12 | g.121847084G>T | CA387013519 | HPD | c.727C>A (p.Pro243Thr) c.610C>A (p.Pro204Thr) | |
| 12 | g.121847085C>A | CA387013522 | HPD | c.726G>T (p.Glu242Asp) c.609G>T (p.Glu203Asp) | |
| 12 | g.121847085C>G | CA387013524 | HPD | c.726G>C (p.Glu242Asp) c.609G>C (p.Glu203Asp) | |
| 12 | g.121847085C>T | CA482193478 | HPD | c.726G>A (p.Glu242=) c.609G>A (p.Glu203=) | |
| 12 | g.121847086T>A | CA387013531 | HPD | c.725A>T (p.Glu242Val) c.608A>T (p.Glu203Val) | |
| 12 | g.121847086T>C | CA387013536 | HPD | c.725A>G (p.Glu242Gly) c.608A>G (p.Glu203Gly) | |
| 12 | g.121847086T>G | CA387013537 | HPD | c.725A>C (p.Glu242Ala) c.608A>C (p.Glu203Ala) | |
| 12 | g.121847087C>A | CA387013538 | HPD | c.724G>T (p.Glu242Ter) c.607G>T (p.Glu203Ter) | |
| 12 | g.121847087C>G | CA387013539 | HPD | c.724G>C (p.Glu242Gln) c.607G>C (p.Glu203Gln) | |
| 12 | g.121847087C>T | CA387013542 | HPD | c.724G>A (p.Glu242Lys) c.607G>A (p.Glu203Lys) | |
| 12 | g.121847090_121847099del | CA2740097602 | HPD | c.715_724del (p.Pro239SerfsTer?) c.598_607del (p.Pro200SerfsTer?) | ClinVar |
| 12 | g.121847088A>C | CA387013550 | HPD | c.723T>G (p.Asn241Lys) c.606T>G (p.Asn202Lys) | gnomAD v4 |
| 12 | g.121847088A>G | CA482193479 | HPD | c.723T>C (p.Asn241=) c.606T>C (p.Asn202=) | |
| 12 | g.121847088A>T | CA387013552 | HPD | c.723T>A (p.Asn241Lys) c.606T>A (p.Asn202Lys) | |
| 12 | g.121847089T>A | CA387013565 | HPD | c.722A>T (p.Asn241Ile) c.605A>T (p.Asn202Ile) | |
| 12 | g.121847089T>C | CA387013562 | HPD | c.722A>G (p.Asn241Ser) c.605A>G (p.Asn202Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.121847089T>G | CA387013558 | HPD | c.722A>C (p.Asn241Thr) c.605A>C (p.Asn202Thr) | |
| 12 | g.121847089T= | CA2068078332 | HPD | c.722A= (p.Asn241=) c.605A= (p.Asn202=) | |
| 12 | g.121847090T>A | CA387013570 | HPD | c.721A>T (p.Asn241Tyr) c.604A>T (p.Asn202Tyr) | |
| 12 | g.121847090T>C | CA387013573 | HPD | c.721A>G (p.Asn241Asp) c.604A>G (p.Asn202Asp) | |
| 12 | g.121847090T>G | CA387013579 | HPD | c.721A>C (p.Asn241His) c.604A>C (p.Asn202His) | |
| 12 | g.121847091G>A | CA482193480 | HPD | c.720C>T (p.Ile240=) c.603C>T (p.Ile201=) | |
| 12 | g.121847091G>C | CA387013588 | HPD | c.720C>G (p.Ile240Met) c.603C>G (p.Ile201Met) | |
| 12 | g.121847091G>T | CA482193481 | HPD | c.720C>A (p.Ile240=) c.603C>A (p.Ile201=) | |
| 12 | g.121847092A>C | CA387013594 | HPD | c.719T>G (p.Ile240Ser) c.602T>G (p.Ile201Ser) | |
| 12 | g.121847092A>G | CA387013600 | HPD | c.719T>C (p.Ile240Thr) c.602T>C (p.Ile201Thr) | |
| 12 | g.121847092A>T | CA387013603 | HPD | c.719T>A (p.Ile240Asn) c.602T>A (p.Ile201Asn) | |
| 12 | g.121847093T>A | CA387013607 | HPD | c.718A>T (p.Ile240Phe) c.601A>T (p.Ile201Phe) | |
| 12 | g.121847093T>C | CA244671372 | HPD | c.718A>G (p.Ile240Val) c.601A>G (p.Ile201Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847093T>G | CA387013608 | HPD | c.718A>C (p.Ile240Leu) c.601A>C (p.Ile201Leu) | gnomAD v4 |
| 12 | g.121847093T= | CA2068078360 | HPD | c.718A= (p.Ile240=) c.601A= (p.Ile201=) | |
| 12 | g.121847094G>A | CA482193482 | HPD | c.717C>T (p.Pro239=) c.600C>T (p.Pro200=) | |
| 12 | g.121847094G>C | CA482193483 | HPD | c.717C>G (p.Pro239=) c.600C>G (p.Pro200=) | |
| 12 | g.121847094G>T | CA482193484 | HPD | c.717C>A (p.Pro239=) c.600C>A (p.Pro200=) | |
| 12 | g.121847096del | CA2575327729 | HPD | c.717del (p.Ile240SerfsTer?) c.600del (p.Ile201SerfsTer?) | ClinVar |
| 12 | g.121847095G>A | CA387013610 | HPD | c.716C>T (p.Pro239Leu) c.599C>T (p.Pro200Leu) | |
| 12 | g.121847095G>C | CA387013613 | HPD | c.716C>G (p.Pro239Arg) c.599C>G (p.Pro200Arg) | |
| 12 | g.121847095G>T | CA387013620 | HPD | c.716C>A (p.Pro239His) c.599C>A (p.Pro200His) | |
| 12 | g.121847096G>A | CA387013628 | HPD | c.715C>T (p.Pro239Ser) c.598C>T (p.Pro200Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847096G>C | CA387013639 | HPD | c.715C>G (p.Pro239Ala) c.598C>G (p.Pro200Ala) | gnomAD v4 |
| 12 | g.121847096G= | CA2068078368 | HPD | c.715C= (p.Pro239=) c.598C= (p.Pro200=) | |
| 12 | g.121847096G>T | CA387013630 | HPD | c.715C>A (p.Pro239Thr) c.598C>A (p.Pro200Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847097C>A | CA387013643 | HPD | c.714G>T (p.Met238Ile) c.597G>T (p.Met199Ile) | |
| 12 | g.121847097C= | CA2068078374 | HPD | c.714G= (p.Met238=) c.597G= (p.Met199=) | |
| 12 | g.121847097C>G | CA387013649 | HPD | c.714G>C (p.Met238Ile) c.597G>C (p.Met199Ile) | |
| 12 | g.121847097C>T | CA6839568 | HPD | c.714G>A (p.Met238Ile) c.597G>A (p.Met199Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847098A>C | CA387013657 | HPD | c.713T>G (p.Met238Arg) c.596T>G (p.Met199Arg) | |
| 12 | g.121847098A>G | CA387013658 | HPD | c.713T>C (p.Met238Thr) c.596T>C (p.Met199Thr) | gnomAD v4 |
| 12 | g.121847098A>T | CA387013659 | HPD | c.713T>A (p.Met238Lys) c.596T>A (p.Met199Lys) | |
| 12 | g.121847099T>A | CA387013660 | HPD | c.712A>T (p.Met238Leu) c.595A>T (p.Met199Leu) | |
| 12 | g.121847099T>C | CA387013662 | HPD | c.712A>G (p.Met238Val) c.595A>G (p.Met199Val) | |
| 12 | g.121847099T>G | CA387013664 | HPD | c.712A>C (p.Met238Leu) c.595A>C (p.Met199Leu) | |
| 12 | g.121847100C>A | CA387013669 | HPD | c.711G>T (p.Lys237Asn) c.594G>T (p.Lys198Asn) | gnomAD v4 |
| 12 | g.121847100C>G | CA387013672 | HPD | c.711G>C (p.Lys237Asn) c.594G>C (p.Lys198Asn) | |
| 12 | g.121847100C>T | CA482193485 | HPD | c.711G>A (p.Lys237=) c.594G>A (p.Lys198=) | |
| 12 | g.121847101T>A | CA387013688 | HPD | c.710A>T (p.Lys237Met) c.593A>T (p.Lys198Met) | |
| 12 | g.121847101T>C | CA387013678 | HPD | c.710A>G (p.Lys237Arg) c.593A>G (p.Lys198Arg) | |
| 12 | g.121847101T>G | CA387013676 | HPD | c.710A>C (p.Lys237Thr) c.593A>C (p.Lys198Thr) | |
| 12 | g.121847102T>A | CA387013699 | HPD | c.709A>T (p.Lys237Ter) c.592A>T (p.Lys198Ter) | |
| 12 | g.121847102T>C | CA244671379 | HPD | c.709A>G (p.Lys237Glu) c.592A>G (p.Lys198Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847102T>G | CA387013693 | HPD | c.709A>C (p.Lys237Gln) c.592A>C (p.Lys198Gln) | gnomAD v4 |
| 12 | g.121847102T= | CA2068078378 | HPD | c.709A= (p.Lys237=) c.592A= (p.Lys198=) | |
| 12 | g.121847103G>A | CA482193486 | HPD | c.708C>T (p.Ile236=) c.591C>T (p.Ile197=) | |
| 12 | g.121847103G>C | CA387013703 | HPD | c.708C>G (p.Ile236Met) c.591C>G (p.Ile197Met) | |
| 12 | g.121847103G>T | CA482193487 | HPD | c.708C>A (p.Ile236=) c.591C>A (p.Ile197=) | |
| 12 | g.121847104A>C | CA387013708 | HPD | c.707T>G (p.Ile236Ser) c.590T>G (p.Ile197Ser) | |
| 12 | g.121847104A>G | CA387013714 | HPD | c.707T>C (p.Ile236Thr) c.590T>C (p.Ile197Thr) | |
| 12 | g.121847104A>T | CA387013717 | HPD | c.707T>A (p.Ile236Asn) c.590T>A (p.Ile197Asn) | |
| 12 | g.121847105T>A | CA387013719 | HPD | c.706A>T (p.Ile236Phe) c.589A>T (p.Ile197Phe) | gnomAD v4 |
| 12 | g.121847105T>C | CA387013720 | HPD | c.706A>G (p.Ile236Val) c.589A>G (p.Ile197Val) | |
| 12 | g.121847105T>G | CA387013722 | HPD | c.706A>C (p.Ile236Leu) c.589A>C (p.Ile197Leu) | |
| 12 | g.121847106G>A | CA6839569 | HPD | c.705C>T (p.Ser235=) c.588C>T (p.Ser196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847106G>C | CA482193488 | HPD | c.705C>G (p.Ser235=) c.588C>G (p.Ser196=) | |
| 12 | g.121847106G= | CA2068078383 | HPD | c.705C= (p.Ser235=) c.588C= (p.Ser196=) | |
| 12 | g.121847106G>T | CA482193489 | HPD | c.705C>A (p.Ser235=) c.588C>A (p.Ser196=) | dbSNP |
| 12 | g.121847107del | CA2797754727 | HPD | c.705del (p.Ile236SerfsTer?) c.588del (p.Ile197SerfsTer?) | |
| 12 | g.121847107G>A | CA387013726 | HPD | c.704C>T (p.Ser235Phe) c.587C>T (p.Ser196Phe) | |
| 12 | g.121847107G>C | CA387013727 | HPD | c.704C>G (p.Ser235Cys) c.587C>G (p.Ser196Cys) | |
| 12 | g.121847107G= | CA2068078386 | HPD | c.704C= (p.Ser235=) c.587C= (p.Ser196=) | |
| 12 | g.121847107G>T | CA387013728 | HPD | c.704C>A (p.Ser235Tyr) c.587C>A (p.Ser196Tyr) | dbSNP |
| 12 | g.121847108A>C | CA387013738 | HPD | c.703T>G (p.Ser235Ala) c.586T>G (p.Ser196Ala) | |
| 12 | g.121847108A>G | CA387013737 | HPD | c.703T>C (p.Ser235Pro) c.586T>C (p.Ser196Pro) | |
| 12 | g.121847108A>T | CA387013731 | HPD | c.703T>A (p.Ser235Thr) c.586T>A (p.Ser196Thr) | |
| 12 | g.121847109C>A | CA387013740 | HPD | c.702G>T (p.Glu234Asp) c.585G>T (p.Glu195Asp) | |
| 12 | g.121847109C>G | CA387013741 | HPD | c.702G>C (p.Glu234Asp) c.585G>C (p.Glu195Asp) | gnomAD v4 |
| 12 | g.121847109C>T | CA482193490 | HPD | c.702G>A (p.Glu234=) c.585G>A (p.Glu195=) | |
| 12 | g.121847111_121847112del | CA2621466436 | HPD | c.701_702del (p.Glu234ValfsTer8) c.584_585del (p.Glu195ValfsTer8) | gnomAD v4 |
| 12 | g.121847110T>A | CA387013744 | HPD | c.701A>T (p.Glu234Val) c.584A>T (p.Glu195Val) | |
| 12 | g.121847110T>C | CA6839570 | HPD | c.701A>G (p.Glu234Gly) c.584A>G (p.Glu195Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847110T>G | CA387013764 | HPD | c.701A>C (p.Glu234Ala) c.584A>C (p.Glu195Ala) | |
| 12 | g.121847110T= | CA2068078391 | HPD | c.701A= (p.Glu234=) c.584A= (p.Glu195=) | |
| 12 | g.121847111C>A | CA387013774 | HPD | c.700G>T (p.Glu234Ter) c.583G>T (p.Glu195Ter) | |
| 12 | g.121847111C= | CA2068078393 | HPD | c.700G= (p.Glu234=) c.583G= (p.Glu195=) | |
| 12 | g.121847111C>G | CA387013776 | HPD | c.700G>C (p.Glu234Gln) c.583G>C (p.Glu195Gln) | |
| 12 | g.121847111C>T | CA244671387 | HPD | c.700G>A (p.Glu234Lys) c.583G>A (p.Glu195Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847112T>A | CA387013782 | HPD | c.699A>T (p.Glu233Asp) c.582A>T (p.Glu194Asp) | |
| 12 | g.121847112T>C | CA482193491 | HPD | c.699A>G (p.Glu233=) c.582A>G (p.Glu194=) | ClinVar gnomAD v4 |
| 12 | g.121847112T>G | CA387013783 | HPD | c.699A>C (p.Glu233Asp) c.582A>C (p.Glu194Asp) | |
| 12 | g.121847112_121847113dup | CA6839571 | HPD | c.698_699dup (p.Glu234LysfsTer?) c.581_582dup (p.Glu195LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847113T>A | CA387013788 | HPD | c.698A>T (p.Glu233Val) c.581A>T (p.Glu194Val) | |
| 12 | g.121847113T>C | CA387013791 | HPD | c.698A>G (p.Glu233Gly) c.581A>G (p.Glu194Gly) | |
| 12 | g.121847113T>G | CA387013792 | HPD | c.698A>C (p.Glu233Ala) c.581A>C (p.Glu194Ala) | |
| 12 | g.121847114C>A | CA387013795 | HPD | c.697G>T (p.Glu233Ter) c.580G>T (p.Glu194Ter) | |
| 12 | g.121847114C>G | CA387013796 | HPD | c.697G>C (p.Glu233Gln) c.580G>C (p.Glu194Gln) | |
| 12 | g.121847114C>T | CA387013793 | HPD | c.697G>A (p.Glu233Lys) c.580G>A (p.Glu194Lys) |