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 |
|---|---|---|---|---|---|
| 9 | g.78304839C>A | CA373872298 | PSAT1 | c.296C>A (p.Ala99Asp) | |
| 9 | g.78304839C= | CA1857665727 | PSAT1 | c.296C= (p.Ala99=) | |
| 9 | g.78304839C>G | CA373872304 | PSAT1 | c.296C>G (p.Ala99Gly) | |
| 9 | g.78304839C>T | CA170850 | PSAT1 | c.296C>T (p.Ala99Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304839_78304840delinsCT | CA1857665726 | PSAT1 | c.296_297delinsCT (p.Ala99=) | |
| 9 | g.78304839_78304840delinsTG | CA16042652 | PSAT1 | c.296_297delinsTG (p.Ala99Val) | ClinVar dbSNP |
| 9 | g.78304841_78304844del | CA2690397189 | PSAT1 | c.298_301del (p.Asp100MetfsTer3) | gnomAD v4 |
| 9 | g.78304840T>A | CA465542955 | PSAT1 | c.297T>A (p.Ala99=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304840T>C | CA465542956 | PSAT1 | c.297T>C (p.Ala99=) | gnomAD v4 |
| 9 | g.78304840T>G | CA5095575 | PSAT1 | c.297T>G (p.Ala99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304840T= | CA1857665728 | PSAT1 | c.297T= (p.Ala99=) | |
| 9 | g.78304841G>A | CA373872307 | PSAT1 | c.298G>A (p.Asp100Asn) | |
| 9 | g.78304841G>C | CA373872309 | PSAT1 | c.298G>C (p.Asp100His) | |
| 9 | g.78304841G>T | CA373872311 | PSAT1 | c.298G>T (p.Asp100Tyr) | |
| 9 | g.78304842A= | CA1857665729 | PSAT1 | c.299A= (p.Asp100=) | |
| 9 | g.78304842A>C | CA114739 | PSAT1 | c.299A>C (p.Asp100Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304842A>G | CA373872313 | PSAT1 | c.299A>G (p.Asp100Gly) | |
| 9 | g.78304842A>T | CA373872314 | PSAT1 | c.299A>T (p.Asp100Val) | |
| 9 | g.78304843C>A | CA373872316 | PSAT1 | c.300C>A (p.Asp100Glu) | |
| 9 | g.78304843C>G | CA373872318 | PSAT1 | c.300C>G (p.Asp100Glu) | |
| 9 | g.78304843C>T | CA465542957 | PSAT1 | c.300C>T (p.Asp100=) | |
| 9 | g.78304844T>A | CA373872320 | PSAT1 | c.301T>A (p.Tyr101Asn) | |
| 9 | g.78304844T>C | CA373872321 | PSAT1 | c.301T>C (p.Tyr101His) | dbSNP |
| 9 | g.78304844T>G | CA373872323 | PSAT1 | c.301T>G (p.Tyr101Asp) | |
| 9 | g.78304844T= | CA1857665730 | PSAT1 | c.301T= (p.Tyr101=) | |
| 9 | g.78304845A>C | CA373872328 | PSAT1 | c.302A>C (p.Tyr101Ser) | |
| 9 | g.78304845A>G | CA373872326 | PSAT1 | c.302A>G (p.Tyr101Cys) | gnomAD v4 |
| 9 | g.78304845A>T | CA373872325 | PSAT1 | c.302A>T (p.Tyr101Phe) | |
| 9 | g.78304846T>A | CA373872330 | PSAT1 | c.303T>A (p.Tyr101Ter) | |
| 9 | g.78304846T>C | CA465542958 | PSAT1 | c.303T>C (p.Tyr101=) | dbSNP |
| 9 | g.78304846T>G | CA373872332 | PSAT1 | c.303T>G (p.Tyr101Ter) | |
| 9 | g.78304846T= | CA1857665731 | PSAT1 | c.303T= (p.Tyr101=) | |
| 9 | g.78304847G>A | CA373872334 | PSAT1 | c.304G>A (p.Val102Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304847G>C | CA373872335 | PSAT1 | c.304G>C (p.Val102Leu) | |
| 9 | g.78304847G= | CA1857665732 | PSAT1 | c.304G= (p.Val102=) | |
| 9 | g.78304847G>T | CA373872337 | PSAT1 | c.304G>T (p.Val102Leu) | |
| 9 | g.78304848T>A | CA373872339 | PSAT1 | c.305T>A (p.Val102Glu) | |
| 9 | g.78304848T>C | CA373872340 | PSAT1 | c.305T>C (p.Val102Ala) | |
| 9 | g.78304848T>G | CA373872343 | PSAT1 | c.305T>G (p.Val102Gly) | |
| 9 | g.78304849G>A | CA465542960 | PSAT1 | c.306G>A (p.Val102=) | |
| 9 | g.78304849G>C | CA465542961 | PSAT1 | c.306G>C (p.Val102=) | |
| 9 | g.78304849G>T | CA465542959 | PSAT1 | c.306G>T (p.Val102=) | COSMIC |
| 9 | g.78304850G>A | CA5095577 | PSAT1 | c.307G>A (p.Val103Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.78304850G>C | CA5095576 | PSAT1 | c.307G>C (p.Val103Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304850G= | CA1857665733 | PSAT1 | c.307G= (p.Val103=) | |
| 9 | g.78304850G>T | CA373872346 | PSAT1 | c.307G>T (p.Val103Leu) | ClinVar dbSNP |
| 9 | g.78304851T>A | CA373872347 | PSAT1 | c.308T>A (p.Val103Glu) | |
| 9 | g.78304851T>C | CA373872349 | PSAT1 | c.308T>C (p.Val103Ala) | |
| 9 | g.78304851T>G | CA373872350 | PSAT1 | c.308T>G (p.Val103Gly) | |
| 9 | g.78304852G>A | CA465542964 | PSAT1 | c.309G>A (p.Val103=) | gnomAD v4 |
| 9 | g.78304852G>C | CA465542963 | PSAT1 | c.309G>C (p.Val103=) | gnomAD v4 |
| 9 | g.78304852G>T | CA465542962 | PSAT1 | c.309G>T (p.Val103=) | |
| 9 | g.78304853A>C | CA373872353 | PSAT1 | c.310A>C (p.Thr104Pro) | |
| 9 | g.78304853A>G | CA373872354 | PSAT1 | c.310A>G (p.Thr104Ala) | |
| 9 | g.78304853A>T | CA373872352 | PSAT1 | c.310A>T (p.Thr104Ser) | |
| 9 | g.78304854C>A | CA373872355 | PSAT1 | c.311C>A (p.Thr104Lys) | COSMIC |
| 9 | g.78304854C= | CA1857665734 | PSAT1 | c.311C= (p.Thr104=) | |
| 9 | g.78304854C>G | CA373872356 | PSAT1 | c.311C>G (p.Thr104Arg) | |
| 9 | g.78304854C>T | CA194441078 | PSAT1 | c.311C>T (p.Thr104Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304855A= | CA1857665735 | PSAT1 | c.312A= (p.Thr104=) | |
| 9 | g.78304855A>C | CA465542965 | PSAT1 | c.312A>C (p.Thr104=) | |
| 9 | g.78304855A>G | CA194441104 | PSAT1 | c.312A>G (p.Thr104=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304855A>T | CA465542966 | PSAT1 | c.312A>T (p.Thr104=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304856G>A | CA373872357 | PSAT1 | c.313G>A (p.Gly105Arg) | |
| 9 | g.78304856G>C | CA373872359 | PSAT1 | c.313G>C (p.Gly105Arg) | |
| 9 | g.78304856G>T | CA373872360 | PSAT1 | c.313G>T (p.Gly105Ter) | |
| 9 | g.78304857G>A | CA373872362 | PSAT1 | c.314G>A (p.Gly105Glu) | |
| 9 | g.78304857G>C | CA373872363 | PSAT1 | c.314G>C (p.Gly105Ala) | |
| 9 | g.78304857G>T | CA373872365 | PSAT1 | c.314G>T (p.Gly105Val) | COSMIC |
| 9 | g.78304858A>C | CA465542967 | PSAT1 | c.315A>C (p.Gly105=) | |
| 9 | g.78304858A>G | CA465542968 | PSAT1 | c.315A>G (p.Gly105=) | |
| 9 | g.78304858A>T | CA465542969 | PSAT1 | c.315A>T (p.Gly105=) | |
| 9 | g.78304859G>A | CA373872367 | PSAT1 | c.316G>A (p.Ala106Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304859G>C | CA373872369 | PSAT1 | c.316G>C (p.Ala106Pro) | |
| 9 | g.78304859G= | CA1857665736 | PSAT1 | c.316G= (p.Ala106=) | |
| 9 | g.78304859G>T | CA5095578 | PSAT1 | c.316G>T (p.Ala106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304860C>A | CA373872375 | PSAT1 | c.317C>A (p.Ala106Asp) | |
| 9 | g.78304860C>G | CA373872373 | PSAT1 | c.317C>G (p.Ala106Gly) | |
| 9 | g.78304860C>T | CA373872371 | PSAT1 | c.317C>T (p.Ala106Val) | |
| 9 | g.78304861T>A | CA465542970 | PSAT1 | c.318T>A (p.Ala106=) | |
| 9 | g.78304861T>C | CA465542971 | PSAT1 | c.318T>C (p.Ala106=) | |
| 9 | g.78304861T>G | CA465542972 | PSAT1 | c.318T>G (p.Ala106=) | gnomAD v4 |
| 9 | g.78304862T>A | CA373872377 | PSAT1 | c.319T>A (p.Trp107Arg) | |
| 9 | g.78304862T>C | CA373872380 | PSAT1 | c.319T>C (p.Trp107Arg) | |
| 9 | g.78304862T>G | CA373872381 | PSAT1 | c.319T>G (p.Trp107Gly) | |
| 9 | g.78304863G>A | CA373872382 | PSAT1 | c.320G>A (p.Trp107Ter) | |
| 9 | g.78304863G>C | CA373872384 | PSAT1 | c.320G>C (p.Trp107Ser) | gnomAD v4 |
| 9 | g.78304863G= | CA1857665737 | PSAT1 | c.320G= (p.Trp107=) | |
| 9 | g.78304863G>T | CA194441122 | PSAT1 | c.320G>T (p.Trp107Leu) | dbSNP |
| 9 | g.78304864G>A | CA373872386 | PSAT1 | c.321G>A (p.Trp107Ter) | gnomAD v4 |
| 9 | g.78304864G>C | CA373872387 | PSAT1 | c.321G>C (p.Trp107Cys) | |
| 9 | g.78304864G>T | CA373872390 | PSAT1 | c.321G>T (p.Trp107Cys) | COSMIC |
| 9 | g.78304865T>A | CA373872392 | PSAT1 | c.322T>A (p.Ser108Thr) | |
| 9 | g.78304865T>C | CA5095579 | PSAT1 | c.322T>C (p.Ser108Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304865T>G | CA373872394 | PSAT1 | c.322T>G (p.Ser108Ala) | |
| 9 | g.78304865T= | CA1857665738 | PSAT1 | c.322T= (p.Ser108=) | |
| 9 | g.78304866C>A | CA373872396 | PSAT1 | c.323C>A (p.Ser108Ter) | |
| 9 | g.78304866C>G | CA373872399 | PSAT1 | c.323C>G (p.Ser108Ter) | |
| 9 | g.78304866C>T | CA373872397 | PSAT1 | c.323C>T (p.Ser108Leu) | gnomAD v4 COSMIC |
| 9 | g.78304867A>C | CA465542973 | PSAT1 | c.324A>C (p.Ser108=) | ClinVar |
| 9 | g.78304867A>G | CA465542974 | PSAT1 | c.324A>G (p.Ser108=) | |
| 9 | g.78304867A>T | CA465542975 | PSAT1 | c.324A>T (p.Ser108=) | |
| 9 | g.78304868G>A | CA373872401 | PSAT1 | c.325G>A (p.Ala109Thr) | |
| 9 | g.78304868G>C | CA373872404 | PSAT1 | c.325G>C (p.Ala109Pro) | |
| 9 | g.78304868G= | CA1857665739 | PSAT1 | c.325G= (p.Ala109=) | |
| 9 | g.78304868G>T | CA373872402 | PSAT1 | c.325G>T (p.Ala109Ser) | dbSNP |
| 9 | g.78304869C>A | CA373872406 | PSAT1 | c.326C>A (p.Ala109Asp) | |
| 9 | g.78304869C= | CA1857665740 | PSAT1 | c.326C= (p.Ala109=) | |
| 9 | g.78304869C>G | CA373872407 | PSAT1 | c.326C>G (p.Ala109Gly) | gnomAD v4 |
| 9 | g.78304869C>T | CA5095580 | PSAT1 | c.326C>T (p.Ala109Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304870T>A | CA465542978 | PSAT1 | c.327T>A (p.Ala109=) | |
| 9 | g.78304870T>C | CA465542977 | PSAT1 | c.327T>C (p.Ala109=) | |
| 9 | g.78304870T>G | CA465542976 | PSAT1 | c.327T>G (p.Ala109=) | |
| 9 | g.78304871A= | CA1857665741 | PSAT1 | c.328A= (p.Lys110=) | |
| 9 | g.78304871A>C | CA5095581 | PSAT1 | c.328A>C (p.Lys110Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304871A>G | CA373872410 | PSAT1 | c.328A>G (p.Lys110Glu) | ClinVar |
| 9 | g.78304871A>T | CA373872412 | PSAT1 | c.328A>T (p.Lys110Ter) | |
| 9 | g.78304872A>C | CA373872413 | PSAT1 | c.329A>C (p.Lys110Thr) | |
| 9 | g.78304872A>G | CA373872415 | PSAT1 | c.329A>G (p.Lys110Arg) | |
| 9 | g.78304872A>T | CA373872416 | PSAT1 | c.329A>T (p.Lys110Met) | |
| 9 | g.78304873G>A | CA465542979 | PSAT1 | c.330G>A (p.Lys110=) | |
| 9 | g.78304873G>C | CA373872417 | PSAT1 | c.330G>C (p.Lys110Asn) | |
| 9 | g.78304873G>T | CA373872419 | PSAT1 | c.330G>T (p.Lys110Asn) | |
| 9 | g.78304874G>A | CA373872421 | PSAT1 | c.331G>A (p.Ala111Thr) | |
| 9 | g.78304874G>C | CA373872423 | PSAT1 | c.331G>C (p.Ala111Pro) | |
| 9 | g.78304874G>T | CA373872422 | PSAT1 | c.331G>T (p.Ala111Ser) | |
| 9 | g.78304875C>A | CA373872425 | PSAT1 | c.332C>A (p.Ala111Asp) | |
| 9 | g.78304875C>G | CA373872426 | PSAT1 | c.332C>G (p.Ala111Gly) | |
| 9 | g.78304875C>T | CA373872427 | PSAT1 | c.332C>T (p.Ala111Val) | |
| 9 | g.78304876C>A | CA465542980 | PSAT1 | c.333C>A (p.Ala111=) | gnomAD v4 |
| 9 | g.78304876C= | CA1857665742 | PSAT1 | c.333C= (p.Ala111=) | |
| 9 | g.78304876C>G | CA465542981 | PSAT1 | c.333C>G (p.Ala111=) | |
| 9 | g.78304876C>T | CA465542982 | PSAT1 | c.333C>T (p.Ala111=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304877G>A | CA5095583 | PSAT1 | c.334G>A (p.Ala112Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304877G>C | CA373872429 | PSAT1 | c.334G>C (p.Ala112Pro) | |
| 9 | g.78304877G= | CA1857665743 | PSAT1 | c.334G= (p.Ala112=) | |
| 9 | g.78304877G>T | CA5095582 | PSAT1 | c.334G>T (p.Ala112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304878C>A | CA373872430 | PSAT1 | c.335C>A (p.Ala112Glu) | |
| 9 | g.78304878C= | CA1857665744 | PSAT1 | c.335C= (p.Ala112=) | |
| 9 | g.78304878C>G | CA373872431 | PSAT1 | c.335C>G (p.Ala112Gly) | |
| 9 | g.78304878C>T | CA5095584 | PSAT1 | c.335C>T (p.Ala112Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304879A>C | CA465542983 | PSAT1 | c.336A>C (p.Ala112=) | |
| 9 | g.78304879A>G | CA465542984 | PSAT1 | c.336A>G (p.Ala112=) | gnomAD v4 |
| 9 | g.78304879A>T | CA465542985 | PSAT1 | c.336A>T (p.Ala112=) | |
| 9 | g.78304880G>A | CA373872434 | PSAT1 | c.337G>A (p.Glu113Lys) | |
| 9 | g.78304880G>C | CA373872439 | PSAT1 | c.337G>C (p.Glu113Gln) | gnomAD v4 |
| 9 | g.78304880G>T | CA373872433 | PSAT1 | c.337G>T (p.Glu113Ter) | |
| 9 | g.78304881A= | CA1857665745 | PSAT1 | c.338A= (p.Glu113=) | |
| 9 | g.78304881A>C | CA373872441 | PSAT1 | c.338A>C (p.Glu113Ala) | |
| 9 | g.78304881A>G | CA373872442 | PSAT1 | c.338A>G (p.Glu113Gly) | |
| 9 | g.78304881A>T | CA5095585 | PSAT1 | c.338A>T (p.Glu113Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304882A>C | CA373872446 | PSAT1 | c.339A>C (p.Glu113Asp) | |
| 9 | g.78304882A>G | CA465542986 | PSAT1 | c.339A>G (p.Glu113=) | |
| 9 | g.78304882A>T | CA373872448 | PSAT1 | c.339A>T (p.Glu113Asp) | |
| 9 | g.78304883G>A | CA373872453 | PSAT1 | c.340G>A (p.Glu114Lys) | |
| 9 | g.78304883G>C | CA373872450 | PSAT1 | c.340G>C (p.Glu114Gln) | |
| 9 | g.78304883G>T | CA373872452 | PSAT1 | c.340G>T (p.Glu114Ter) | |
| 9 | g.78304884A= | CA1857665746 | PSAT1 | c.341A= (p.Glu114=) | |
| 9 | g.78304884A>C | CA5095586 | PSAT1 | c.341A>C (p.Glu114Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304884A>G | CA373872456 | PSAT1 | c.341A>G (p.Glu114Gly) | gnomAD v4 |
| 9 | g.78304884A>T | CA373872457 | PSAT1 | c.341A>T (p.Glu114Val) | |
| 9 | g.78304885A>C | CA373872459 | PSAT1 | c.342A>C (p.Glu114Asp) | |
| 9 | g.78304885A>G | CA465542987 | PSAT1 | c.342A>G (p.Glu114=) | gnomAD v4 |
| 9 | g.78304885A>T | CA373872461 | PSAT1 | c.342A>T (p.Glu114Asp) | |
| 9 | g.78304886G>A | CA373872462 | PSAT1 | c.343G>A (p.Ala115Thr) | |
| 9 | g.78304886G>C | CA373872465 | PSAT1 | c.343G>C (p.Ala115Pro) | |
| 9 | g.78304886G>T | CA373872463 | PSAT1 | c.343G>T (p.Ala115Ser) | |
| 9 | g.78304887C>A | CA373872466 | PSAT1 | c.344C>A (p.Ala115Asp) | |
| 9 | g.78304887C>G | CA373872468 | PSAT1 | c.344C>G (p.Ala115Gly) | |
| 9 | g.78304887C>T | CA373872469 | PSAT1 | c.344C>T (p.Ala115Val) | |
| 9 | g.78304888C>A | CA465542988 | PSAT1 | c.345C>A (p.Ala115=) | |
| 9 | g.78304888C>G | CA465542989 | PSAT1 | c.345C>G (p.Ala115=) | |
| 9 | g.78304888C>T | CA465542990 | PSAT1 | c.345C>T (p.Ala115=) | |
| 9 | g.78304889A>C | CA373872471 | PSAT1 | c.346A>C (p.Lys116Gln) | |
| 9 | g.78304889A>G | CA373872473 | PSAT1 | c.346A>G (p.Lys116Glu) | COSMIC |
| 9 | g.78304889A>T | CA373872475 | PSAT1 | c.346A>T (p.Lys116Ter) | |
| 9 | g.78304890A>C | CA373872476 | PSAT1 | c.347A>C (p.Lys116Thr) | |
| 9 | g.78304890A>G | CA373872478 | PSAT1 | c.347A>G (p.Lys116Arg) | |
| 9 | g.78304890A>T | CA373872479 | PSAT1 | c.347A>T (p.Lys116Met) | |
| 9 | g.78304891G>A | CA5095587 | PSAT1 | c.348G>A (p.Lys116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304891G>C | CA5095588 | PSAT1 | c.348G>C (p.Lys116Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304891G= | CA1857665747 | PSAT1 | c.348G= (p.Lys116=) | |
| 9 | g.78304891G>T | CA373872482 | PSAT1 | c.348G>T (p.Lys116Asn) | ClinVar dbSNP |
| 9 | g.78304892A>C | CA373872485 | PSAT1 | c.349A>C (p.Lys117Gln) | |
| 9 | g.78304892A>G | CA373872486 | PSAT1 | c.349A>G (p.Lys117Glu) | |
| 9 | g.78304892A>T | CA373872484 | PSAT1 | c.349A>T (p.Lys117Ter) | |
| 9 | g.78304893A>C | CA373872488 | PSAT1 | c.350A>C (p.Lys117Thr) | |
| 9 | g.78304893A>G | CA373872487 | PSAT1 | c.350A>G (p.Lys117Arg) | |
| 9 | g.78304893A>T | CA373872489 | PSAT1 | c.350A>T (p.Lys117Met) | |
| 9 | g.78304894G>A | CA194441160 | PSAT1 | c.351G>A (p.Lys117=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304894G>C | CA373872490 | PSAT1 | c.351G>C (p.Lys117Asn) | |
| 9 | g.78304894G= | CA1857665748 | PSAT1 | c.351G= (p.Lys117=) | |
| 9 | g.78304894G>T | CA373872491 | PSAT1 | c.351G>T (p.Lys117Asn) | |
| 9 | g.78304895T>A | CA373872492 | PSAT1 | c.352T>A (p.Phe118Ile) | |
| 9 | g.78304895T>C | CA373872493 | PSAT1 | c.352T>C (p.Phe118Leu) | |
| 9 | g.78304895T>G | CA373872494 | PSAT1 | c.352T>G (p.Phe118Val) | |
| 9 | g.78304896T>A | CA373872495 | PSAT1 | c.353T>A (p.Phe118Tyr) | |
| 9 | g.78304896T>C | CA373872496 | PSAT1 | c.353T>C (p.Phe118Ser) | |
| 9 | g.78304896T>G | CA373872497 | PSAT1 | c.353T>G (p.Phe118Cys) | |
| 9 | g.78304897T>A | CA373872498 | PSAT1 | c.354T>A (p.Phe118Leu) | |
| 9 | g.78304897T>C | CA465542991 | PSAT1 | c.354T>C (p.Phe118=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304897T>G | CA373872499 | PSAT1 | c.354T>G (p.Phe118Leu) | |
| 9 | g.78304897T= | CA1857665749 | PSAT1 | c.354T= (p.Phe118=) | |
| 9 | g.78304898G>A | CA373872502 | PSAT1 | c.355G>A (p.Gly119Arg) | |
| 9 | g.78304898G>C | CA373872501 | PSAT1 | c.355G>C (p.Gly119Arg) | |
| 9 | g.78304898G>T | CA373872500 | PSAT1 | c.355G>T (p.Gly119Trp) | |
| 9 | g.78304900del | CA2579362210 | PSAT1 | c.357del (p.Thr120LeufsTer2) | ClinVar |
| 9 | g.78304899G>A | CA373872503 | PSAT1 | c.356G>A (p.Gly119Glu) | |
| 9 | g.78304899G>C | CA373872504 | PSAT1 | c.356G>C (p.Gly119Ala) | |
| 9 | g.78304899G>T | CA373872505 | PSAT1 | c.356G>T (p.Gly119Val) | |
| 9 | g.78304900G>A | CA194441161 | PSAT1 | c.357G>A (p.Gly119=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78304900G>C | CA465542992 | PSAT1 | c.357G>C (p.Gly119=) | |
| 9 | g.78304900G= | CA1857665750 | PSAT1 | c.357G= (p.Gly119=) | |
| 9 | g.78304900G>T | CA465542993 | PSAT1 | c.357G>T (p.Gly119=) | |
| 9 | g.78304901A>C | CA373872506 | PSAT1 | c.358A>C (p.Thr120Pro) | |
| 9 | g.78304901A>G | CA373872507 | PSAT1 | c.358A>G (p.Thr120Ala) | ClinVar |
| 9 | g.78304901A>T | CA373872508 | PSAT1 | c.358A>T (p.Thr120Ser) | |
| 9 | g.78304902C>A | CA373872509 | PSAT1 | c.359C>A (p.Thr120Asn) | |
| 9 | g.78304902C= | CA1857665751 | PSAT1 | c.359C= (p.Thr120=) | |
| 9 | g.78304902C>G | CA194441168 | PSAT1 | c.359C>G (p.Thr120Ser) | dbSNP |
| 9 | g.78304902C>T | CA373872510 | PSAT1 | c.359C>T (p.Thr120Ile) | |
| 9 | g.78304903T>A | CA465542996 | PSAT1 | c.360T>A (p.Thr120=) | |
| 9 | g.78304903T>C | CA465542995 | PSAT1 | c.360T>C (p.Thr120=) | |
| 9 | g.78304903T>G | CA465542994 | PSAT1 | c.360T>G (p.Thr120=) | |
| 9 | g.78304904A= | CA1857665752 | PSAT1 | c.361A= (p.Ile121=) | |
| 9 | g.78304904A>C | CA373872511 | PSAT1 | c.361A>C (p.Ile121Leu) | |
| 9 | g.78304904A>G | CA373872512 | PSAT1 | c.361A>G (p.Ile121Val) | dbSNP |
| 9 | g.78304904A>T | CA373872513 | PSAT1 | c.361A>T (p.Ile121Leu) | |
| 9 | g.78304905T>A | CA373872515 | PSAT1 | c.362T>A (p.Ile121Lys) | |
| 9 | g.78304905T>C | CA373872516 | PSAT1 | c.362T>C (p.Ile121Thr) | gnomAD v4 |
| 9 | g.78304905T>G | CA373872514 | PSAT1 | c.362T>G (p.Ile121Arg) | |
| 9 | g.78304906A>C | CA465542998 | PSAT1 | c.363A>C (p.Ile121=) | |
| 9 | g.78304906A>G | CA373872517 | PSAT1 | c.363A>G (p.Ile121Met) | |
| 9 | g.78304906A>T | CA465542997 | PSAT1 | c.363A>T (p.Ile121=) | |
| 9 | g.78304907A>C | CA373872518 | PSAT1 | c.364A>C (p.Asn122His) | |
| 9 | g.78304907A>G | CA373872519 | PSAT1 | c.364A>G (p.Asn122Asp) | |
| 9 | g.78304907A>T | CA373872520 | PSAT1 | c.364A>T (p.Asn122Tyr) | |
| 9 | g.78304908A>C | CA373872521 | PSAT1 | c.365A>C (p.Asn122Thr) | |
| 9 | g.78304908A>G | CA373872522 | PSAT1 | c.365A>G (p.Asn122Ser) | |
| 9 | g.78304908A>T | CA373872523 | PSAT1 | c.365A>T (p.Asn122Ile) | |
| 9 | g.78304909T>A | CA373872524 | PSAT1 | c.366T>A (p.Asn122Lys) | |
| 9 | g.78304909T>C | CA465542999 | PSAT1 | c.366T>C (p.Asn122=) | |
| 9 | g.78304909T>G | CA373872525 | PSAT1 | c.366T>G (p.Asn122Lys) | |
| 9 | g.78304910A= | CA1857665753 | PSAT1 | c.367A= (p.Ile123=) | |
| 9 | g.78304910A>C | CA373872526 | PSAT1 | c.367A>C (p.Ile123Leu) | dbSNP |
| 9 | g.78304910A>G | CA5095589 | PSAT1 | c.367A>G (p.Ile123Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304910A>T | CA373872527 | PSAT1 | c.367A>T (p.Ile123Phe) | |
| 9 | g.78304911T>A | CA373872529 | PSAT1 | c.368T>A (p.Ile123Asn) | |
| 9 | g.78304911T>C | CA5095590 | PSAT1 | c.368T>C (p.Ile123Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304911T>G | CA373872528 | PSAT1 | c.368T>G (p.Ile123Ser) | |
| 9 | g.78304911T= | CA1857665754 | PSAT1 | c.368T= (p.Ile123=) | |
| 9 | g.78304912C>A | CA5095592 | PSAT1 | c.369C>A (p.Ile123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304912C= | CA1857665755 | PSAT1 | c.369C= (p.Ile123=) | |
| 9 | g.78304912C>G | CA373872530 | PSAT1 | c.369C>G (p.Ile123Met) | |
| 9 | g.78304912C>T | CA5095591 | PSAT1 | c.369C>T (p.Ile123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304913G>A | CA5095593 | PSAT1 | c.370G>A (p.Val124Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304913G>C | CA373872531 | PSAT1 | c.370G>C (p.Val124Leu) | |
| 9 | g.78304913G= | CA1857665756 | PSAT1 | c.370G= (p.Val124=) | |
| 9 | g.78304913G>T | CA373872532 | PSAT1 | c.370G>T (p.Val124Phe) | gnomAD v4 |
| 9 | g.78304913_78304920delinsGTTCACCC | CA1857665757 | PSAT1 | c.370_377delinsGTTCACCC (p.Val124=) | |
| 9 | g.78304914T>A | CA373872535 | PSAT1 | c.371T>A (p.Val124Asp) | |
| 9 | g.78304914T>C | CA373872533 | PSAT1 | c.371T>C (p.Val124Ala) | |
| 9 | g.78304914T>G | CA373872534 | PSAT1 | c.371T>G (p.Val124Gly) | |
| 9 | g.78304915_78304921del | CA588775340 | PSAT1 | c.372_378del (p.His125AsnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304915T>A | CA465543001 | PSAT1 | c.372T>A (p.Val124=) | |
| 9 | g.78304915T>C | CA465543000 | PSAT1 | c.372T>C (p.Val124=) | |
| 9 | g.78304915T>G | CA465543002 | PSAT1 | c.372T>G (p.Val124=) | |
| 9 | g.78304916C>A | CA373872536 | PSAT1 | c.373C>A (p.His125Asn) | COSMIC |
| 9 | g.78304916C= | CA1857665758 | PSAT1 | c.373C= (p.His125=) | |
| 9 | g.78304916C>G | CA373872537 | PSAT1 | c.373C>G (p.His125Asp) | |
| 9 | g.78304916C>T | CA194441178 | PSAT1 | c.373C>T (p.His125Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304917A>C | CA373872538 | PSAT1 | c.374A>C (p.His125Pro) | |
| 9 | g.78304917A>G | CA373872539 | PSAT1 | c.374A>G (p.His125Arg) | |
| 9 | g.78304917A>T | CA373872540 | PSAT1 | c.374A>T (p.His125Leu) | |
| 9 | g.78304917dup | CA2690397190 | PSAT1 | c.374dup (p.His125GlnfsTer3) | gnomAD v4 |
| 9 | g.78304918C>A | CA373872541 | PSAT1 | c.375C>A (p.His125Gln) | |
| 9 | g.78304918C>G | CA373872542 | PSAT1 | c.375C>G (p.His125Gln) | |
| 9 | g.78304918C>T | CA465543003 | PSAT1 | c.375C>T (p.His125=) | |
| 9 | g.78304920del | CA2690397191 | PSAT1 | c.377del (p.Pro126LeufsTer?) | gnomAD v4 |
| 9 | g.78304919C>A | CA373872543 | PSAT1 | c.376C>A (p.Pro126Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304919C= | CA1857665759 | PSAT1 | c.376C= (p.Pro126=) | |
| 9 | g.78304919C>G | CA373872544 | PSAT1 | c.376C>G (p.Pro126Ala) | |
| 9 | g.78304919C>T | CA194441182 | PSAT1 | c.376C>T (p.Pro126Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304920C>A | CA373872545 | PSAT1 | c.377C>A (p.Pro126His) | |
| 9 | g.78304920C>G | CA373872546 | PSAT1 | c.377C>G (p.Pro126Arg) | |
| 9 | g.78304920C>T | CA373872547 | PSAT1 | c.377C>T (p.Pro126Leu) | |
| 9 | g.78304921T>A | CA465543004 | PSAT1 | c.378T>A (p.Pro126=) | |
| 9 | g.78304921T>C | CA465543006 | PSAT1 | c.378T>C (p.Pro126=) | |
| 9 | g.78304921T>G | CA465543005 | PSAT1 | c.378T>G (p.Pro126=) | |
| 9 | g.78304922A>C | CA373872550 | PSAT1 | c.379A>C (p.Lys127Gln) | |
| 9 | g.78304922A>G | CA373872548 | PSAT1 | c.379A>G (p.Lys127Glu) | |
| 9 | g.78304922A>T | CA373872549 | PSAT1 | c.379A>T (p.Lys127Ter) | |
| 9 | g.78304923A>C | CA373872551 | PSAT1 | c.380A>C (p.Lys127Thr) | |
| 9 | g.78304923A>G | CA373872552 | PSAT1 | c.380A>G (p.Lys127Arg) | gnomAD v4 |
| 9 | g.78304923A>T | CA373872553 | PSAT1 | c.380A>T (p.Lys127Ile) | |
| 9 | g.78304924A>C | CA373872554 | PSAT1 | c.381A>C (p.Lys127Asn) | |
| 9 | g.78304924A>G | CA465543007 | PSAT1 | c.381A>G (p.Lys127=) | COSMIC |
| 9 | g.78304924A>T | CA373872555 | PSAT1 | c.381A>T (p.Lys127Asn) | |
| 9 | g.78304925C>A | CA373872557 | PSAT1 | c.382C>A (p.Leu128Ile) | |
| 9 | g.78304925C= | CA1857665760 | PSAT1 | c.382C= (p.Leu128=) | |
| 9 | g.78304925C>G | CA373872556 | PSAT1 | c.382C>G (p.Leu128Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304925C>T | CA5095594 | PSAT1 | c.382C>T (p.Leu128Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304926T>A | CA373872558 | PSAT1 | c.383T>A (p.Leu128His) | |
| 9 | g.78304926T>C | CA373872559 | PSAT1 | c.383T>C (p.Leu128Pro) | dbSNP |
| 9 | g.78304926T>G | CA373872560 | PSAT1 | c.383T>G (p.Leu128Arg) | |
| 9 | g.78304926T= | CA1857665761 | PSAT1 | c.383T= (p.Leu128=) | |
| 9 | g.78304927T>A | CA465543008 | PSAT1 | c.384T>A (p.Leu128=) | |
| 9 | g.78304927T>C | CA465543009 | PSAT1 | c.384T>C (p.Leu128=) | gnomAD v4 |
| 9 | g.78304927T>G | CA465543010 | PSAT1 | c.384T>G (p.Leu128=) | |
| 9 | g.78304927T= | CA1857665762 | PSAT1 | c.384T= (p.Leu128=) | |
| 9 | g.78304928G>A | CA373872561 | PSAT1 | c.385G>A (p.Gly129Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304928G>C | CA373872562 | PSAT1 | c.385G>C (p.Gly129Arg) | |
| 9 | g.78304928G= | CA1857665763 | PSAT1 | c.385G= (p.Gly129=) | |
| 9 | g.78304928G>T | CA373872563 | PSAT1 | c.385G>T (p.Gly129Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304930dup | CA194441189 | PSAT1 | c.387dup (p.Ser130GlufsTer26) | dbSNP |
| 9 | g.78304929G>A | CA5095595 | PSAT1 | c.386G>A (p.Gly129Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304929G>C | CA373872564 | PSAT1 | c.386G>C (p.Gly129Ala) | |
| 9 | g.78304929G= | CA1857665764 | PSAT1 | c.386G= (p.Gly129=) | |
| 9 | g.78304929G>T | CA373872565 | PSAT1 | c.386G>T (p.Gly129Val) | |
| 9 | g.78304930G>A | CA465543011 | PSAT1 | c.387G>A (p.Gly129=) | gnomAD v4 |
| 9 | g.78304930G>C | CA465543012 | PSAT1 | c.387G>C (p.Gly129=) | |
| 9 | g.78304930G>T | CA465543013 | PSAT1 | c.387G>T (p.Gly129=) | |
| 9 | g.78304931A>C | CA373872566 | PSAT1 | c.388A>C (p.Ser130Arg) | |
| 9 | g.78304931A>G | CA373872567 | PSAT1 | c.388A>G (p.Ser130Gly) | |
| 9 | g.78304931A>T | CA373872568 | PSAT1 | c.388A>T (p.Ser130Cys) | |
| 9 | g.78304932G>A | CA373872569 | PSAT1 | c.389G>A (p.Ser130Asn) | |
| 9 | g.78304932G>C | CA373872571 | PSAT1 | c.389G>C (p.Ser130Thr) | |
| 9 | g.78304932G>T | CA373872570 | PSAT1 | c.389G>T (p.Ser130Ile) | |
| 9 | g.78304933T>A | CA373872572 | PSAT1 | c.390T>A (p.Ser130Arg) | |
| 9 | g.78304933T>C | CA465543014 | PSAT1 | c.390T>C (p.Ser130=) | |
| 9 | g.78304933T>G | CA373872573 | PSAT1 | c.390T>G (p.Ser130Arg) | gnomAD v4 |
| 9 | g.78304934T>A | CA373872574 | PSAT1 | c.391T>A (p.Tyr131Asn) | |
| 9 | g.78304934T>C | CA373872575 | PSAT1 | c.391T>C (p.Tyr131His) | |
| 9 | g.78304934T>G | CA373872576 | PSAT1 | c.391T>G (p.Tyr131Asp) | |
| 9 | g.78304935A= | CA1857665765 | PSAT1 | c.392A= (p.Tyr131=) | |
| 9 | g.78304935A>C | CA373872579 | PSAT1 | c.392A>C (p.Tyr131Ser) | |
| 9 | g.78304935A>G | CA373872578 | PSAT1 | c.392A>G (p.Tyr131Cys) | |
| 9 | g.78304935A>T | CA373872577 | PSAT1 | c.392A>T (p.Tyr131Phe) | dbSNP |
| 9 | g.78304936T>A | CA373872580 | PSAT1 | c.393T>A (p.Tyr131Ter) | |
| 9 | g.78304936T>C | CA5095596 | PSAT1 | c.393T>C (p.Tyr131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304936T>G | CA5095597 | PSAT1 | c.393T>G (p.Tyr131Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304936T= | CA1857665766 | PSAT1 | c.393T= (p.Tyr131=) | |
| 9 | g.78304937A>C | CA373872581 | PSAT1 | c.394A>C (p.Thr132Pro) | |
| 9 | g.78304937A>G | CA373872582 | PSAT1 | c.394A>G (p.Thr132Ala) | |
| 9 | g.78304937A>T | CA373872583 | PSAT1 | c.394A>T (p.Thr132Ser) | |
| 9 | g.78304938C>A | CA373872584 | PSAT1 | c.395C>A (p.Thr132Lys) | |
| 9 | g.78304938C= | CA1857665767 | PSAT1 | c.395C= (p.Thr132=) | |
| 9 | g.78304938C>G | CA373872586 | PSAT1 | c.395C>G (p.Thr132Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78304938C>T | CA373872585 | PSAT1 | c.395C>T (p.Thr132Ile) | |
| 9 | g.78304939A>C | CA465543015 | PSAT1 | c.396A>C (p.Thr132=) | |
| 9 | g.78304939A>G | CA465543016 | PSAT1 | c.396A>G (p.Thr132=) | |
| 9 | g.78304939A>T | CA465543017 | PSAT1 | c.396A>T (p.Thr132=) |