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.137142021_137142022delinsCA | CA1884319600 | GRIN1 | c.267_268delinsCA (p.Ala89=) n.344_345delinsCA | |
| 9 | g.137142022del | CA591215264 | GRIN1 | c.268del (p.Ile90SerfsTer2) n.345del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137142022A>C | CA375713526 | GRIN1 | c.268A>C (p.Ile90Leu) n.345A>C | |
| 9 | g.137142022A>G | CA375713527 | GRIN1 | c.268A>G (p.Ile90Val) n.345A>G | |
| 9 | g.137142022A>T | CA375713528 | GRIN1 | c.268A>T (p.Ile90Phe) n.345A>T | |
| 9 | g.137142023T>A | CA375713529 | GRIN1 | c.269T>A (p.Ile90Asn) n.346T>A | |
| 9 | g.137142023T>C | CA375713530 | GRIN1 | c.269T>C (p.Ile90Thr) n.346T>C | |
| 9 | g.137142023T>G | CA375713531 | GRIN1 | c.269T>G (p.Ile90Ser) n.346T>G | |
| 9 | g.137142024C>A | CA467788939 | GRIN1 | c.270C>A (p.Ile90=) n.347C>A | |
| 9 | g.137142024C>G | CA375713532 | GRIN1 | c.270C>G (p.Ile90Met) n.347C>G | |
| 9 | g.137142024C>T | CA467788940 | GRIN1 | c.270C>T (p.Ile90=) n.347C>T | |
| 9 | g.137142025C>A | CA375713533 | GRIN1 | c.271C>A (p.Leu91Ile) n.348C>A | |
| 9 | g.137142025C>G | CA375713534 | GRIN1 | c.271C>G (p.Leu91Val) n.348C>G | |
| 9 | g.137142025C>T | CA467788941 | GRIN1 | c.271C>T (p.Leu91=) n.348C>T | |
| 9 | g.137142026T>A | CA375713536 | GRIN1 | c.272T>A (p.Leu91Gln) n.349T>A | |
| 9 | g.137142026T>C | CA375713537 | GRIN1 | c.272T>C (p.Leu91Pro) n.349T>C | |
| 9 | g.137142026T>G | CA375713535 | GRIN1 | c.272T>G (p.Leu91Arg) n.349T>G | |
| 9 | g.137142027A>C | CA467788942 | GRIN1 | c.273A>C (p.Leu91=) n.350A>C | |
| 9 | g.137142027A>G | CA467788943 | GRIN1 | c.273A>G (p.Leu91=) n.350A>G | |
| 9 | g.137142027A>T | CA467788944 | GRIN1 | c.273A>T (p.Leu91=) n.350A>T | |
| 9 | g.137142028G>A | CA375713538 | GRIN1 | c.274G>A (p.Val92Ile) n.351G>A | |
| 9 | g.137142028G>C | CA375713539 | GRIN1 | c.274G>C (p.Val92Leu) n.351G>C | COSMIC COSMIC |
| 9 | g.137142028G>T | CA375713540 | GRIN1 | c.274G>T (p.Val92Phe) n.351G>T | COSMIC COSMIC |
| 9 | g.137142029T>A | CA375713541 | GRIN1 | c.275T>A (p.Val92Asp) n.352T>A | |
| 9 | g.137142029T>C | CA375713542 | GRIN1 | c.275T>C (p.Val92Ala) n.352T>C | |
| 9 | g.137142029T>G | CA375713543 | GRIN1 | c.275T>G (p.Val92Gly) n.352T>G | gnomAD v4 |
| 9 | g.137142030T>A | CA467788945 | GRIN1 | c.276T>A (p.Val92=) n.353T>A | |
| 9 | g.137142030T>C | CA467788946 | GRIN1 | c.276T>C (p.Val92=) n.353T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142030T>G | CA467788947 | GRIN1 | c.276T>G (p.Val92=) n.353T>G | |
| 9 | g.137142030T= | CA1884319601 | GRIN1 | c.276T= (p.Val92=) n.353T= | |
| 9 | g.137142031A>C | CA375713546 | GRIN1 | c.277A>C (p.Ser93Arg) n.354A>C | |
| 9 | g.137142031A>G | CA375713544 | GRIN1 | c.277A>G (p.Ser93Gly) n.354A>G | |
| 9 | g.137142031A>T | CA375713545 | GRIN1 | c.277A>T (p.Ser93Cys) n.354A>T | |
| 9 | g.137142032G>A | CA375713547 | GRIN1 | c.278G>A (p.Ser93Asn) n.355G>A | |
| 9 | g.137142032G>C | CA375713548 | GRIN1 | c.278G>C (p.Ser93Thr) n.355G>C | |
| 9 | g.137142032G>T | CA375713549 | GRIN1 | c.278G>T (p.Ser93Ile) n.355G>T | |
| 9 | g.137142033C>A | CA375713550 | GRIN1 | c.279C>A (p.Ser93Arg) n.356C>A | |
| 9 | g.137142033C>G | CA375713551 | GRIN1 | c.279C>G (p.Ser93Arg) n.356C>G | |
| 9 | g.137142033C>T | CA467788948 | GRIN1 | c.279C>T (p.Ser93=) n.356C>T | |
| 9 | g.137142034C>A | CA375713554 | GRIN1 | c.280C>A (p.His94Asn) n.357C>A | |
| 9 | g.137142034C>G | CA375713553 | GRIN1 | c.280C>G (p.His94Asp) n.357C>G | |
| 9 | g.137142034C>T | CA375713552 | GRIN1 | c.280C>T (p.His94Tyr) n.357C>T | gnomAD v4 |
| 9 | g.137142035A>C | CA375713555 | GRIN1 | c.281A>C (p.His94Pro) n.358A>C | |
| 9 | g.137142035A>G | CA375713557 | GRIN1 | c.281A>G (p.His94Arg) n.358A>G | |
| 9 | g.137142035A>T | CA375713556 | GRIN1 | c.281A>T (p.His94Leu) n.358A>T | |
| 9 | g.137142036T>A | CA375713558 | GRIN1 | c.282T>A (p.His94Gln) n.359T>A | |
| 9 | g.137142036T>C | CA467788949 | GRIN1 | c.282T>C (p.His94=) n.359T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142036T>G | CA375713559 | GRIN1 | c.282T>G (p.His94Gln) n.359T>G | |
| 9 | g.137142036T= | CA1884319602 | GRIN1 | c.282T= (p.His94=) n.359T= | |
| 9 | g.137142037C>A | CA375713560 | GRIN1 | c.283C>A (p.Pro95Thr) n.360C>A | |
| 9 | g.137142037C>G | CA375713562 | GRIN1 | c.283C>G (p.Pro95Ala) n.360C>G | gnomAD v4 |
| 9 | g.137142037C>T | CA375713561 | GRIN1 | c.283C>T (p.Pro95Ser) n.360C>T | dbSNP |
| 9 | g.137142038C>A | CA375713563 | GRIN1 | c.284C>A (p.Pro95Gln) n.361C>A | |
| 9 | g.137142038C>G | CA375713564 | GRIN1 | c.284C>G (p.Pro95Arg) n.361C>G | |
| 9 | g.137142038C>T | CA375713565 | GRIN1 | c.284C>T (p.Pro95Leu) n.361C>T | |
| 9 | g.137142039A>C | CA467788951 | GRIN1 | c.285A>C (p.Pro95=) n.362A>C | |
| 9 | g.137142039A>G | CA467788952 | GRIN1 | c.285A>G (p.Pro95=) n.362A>G | |
| 9 | g.137142039A>T | CA467788950 | GRIN1 | c.285A>T (p.Pro95=) n.362A>T | |
| 9 | g.137142040C>A | CA375713566 | GRIN1 | c.286C>A (p.Pro96Thr) n.363C>A | |
| 9 | g.137142040C= | CA1884319603 | GRIN1 | c.286C= (p.Pro96=) n.363C= | |
| 9 | g.137142040C>G | CA375713567 | GRIN1 | c.286C>G (p.Pro96Ala) n.363C>G | |
| 9 | g.137142040C>T | CA375713568 | GRIN1 | c.286C>T (p.Pro96Ser) n.363C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137142041C>A | CA375713569 | GRIN1 | c.287C>A (p.Pro96His) n.364C>A | |
| 9 | g.137142041C>G | CA375713570 | GRIN1 | c.287C>G (p.Pro96Arg) n.364C>G | |
| 9 | g.137142041C>T | CA375713571 | GRIN1 | c.287C>T (p.Pro96Leu) n.364C>T | |
| 9 | g.137142042T>A | CA467788953 | GRIN1 | c.288T>A (p.Pro96=) n.365T>A | |
| 9 | g.137142042T>C | CA467788954 | GRIN1 | c.288T>C (p.Pro96=) n.365T>C | dbSNP |
| 9 | g.137142042T>G | CA467788955 | GRIN1 | c.288T>G (p.Pro96=) n.365T>G | |
| 9 | g.137142042T= | CA1884319604 | GRIN1 | c.288T= (p.Pro96=) n.365T= | |
| 9 | g.137142043A>C | CA375713572 | GRIN1 | c.289A>C (p.Thr97Pro) n.366A>C | |
| 9 | g.137142043A>G | CA375713573 | GRIN1 | c.289A>G (p.Thr97Ala) n.366A>G | gnomAD v4 |
| 9 | g.137142043A>T | CA375713574 | GRIN1 | c.289A>T (p.Thr97Ser) n.366A>T | |
| 9 | g.137142044C>A | CA201728507 | GRIN1 | c.290C>A (p.Thr97Asn) n.367C>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.137142044C= | CA1884319605 | GRIN1 | c.290C= (p.Thr97=) n.367C= | |
| 9 | g.137142044C>G | CA375713575 | GRIN1 | c.290C>G (p.Thr97Ser) n.367C>G | |
| 9 | g.137142044C>T | CA375713576 | GRIN1 | c.290C>T (p.Thr97Ile) n.367C>T | gnomAD v4 |
| 9 | g.137142048del | CA2692776327 | GRIN1 | c.294del (p.Asn99ThrfsTer23) n.371del | gnomAD v4 |
| 9 | g.137142045C>A | CA5360609 | GRIN1 | c.291C>A (p.Thr97=) n.368C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142045C= | CA1884319606 | GRIN1 | c.291C= (p.Thr97=) n.368C= | |
| 9 | g.137142045C>G | CA467788956 | GRIN1 | c.291C>G (p.Thr97=) n.368C>G | |
| 9 | g.137142045C>T | CA467788957 | GRIN1 | c.291C>T (p.Thr97=) n.368C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137142046C>A | CA375713577 | GRIN1 | c.292C>A (p.Pro98Thr) n.369C>A | |
| 9 | g.137142046C= | CA1884319607 | GRIN1 | c.292C= (p.Pro98=) n.369C= | |
| 9 | g.137142046C>G | CA201728513 | GRIN1 | c.292C>G (p.Pro98Ala) n.369C>G | ClinVar dbSNP |
| 9 | g.137142046C>T | CA375713578 | GRIN1 | c.292C>T (p.Pro98Ser) n.369C>T | |
| 9 | g.137142047C>A | CA375713579 | GRIN1 | c.293C>A (p.Pro98His) n.370C>A | |
| 9 | g.137142047C= | CA1884319608 | GRIN1 | c.293C= (p.Pro98=) n.370C= | |
| 9 | g.137142047C>G | CA5360610 | GRIN1 | c.293C>G (p.Pro98Arg) n.370C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137142047C>T | CA375713580 | GRIN1 | c.293C>T (p.Pro98Leu) n.370C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137142048C>A | CA467788958 | GRIN1 | c.294C>A (p.Pro98=) n.371C>A | gnomAD v4 |
| 9 | g.137142048C>G | CA467788959 | GRIN1 | c.294C>G (p.Pro98=) n.371C>G | |
| 9 | g.137142048C>T | CA467788960 | GRIN1 | c.294C>T (p.Pro98=) n.371C>T | |
| 9 | g.137142049A>C | CA375713581 | GRIN1 | c.295A>C (p.Asn99His) n.372A>C | |
| 9 | g.137142049A>G | CA375713582 | GRIN1 | c.295A>G (p.Asn99Asp) n.372A>G | |
| 9 | g.137142049A>T | CA375713583 | GRIN1 | c.295A>T (p.Asn99Tyr) n.372A>T | |
| 9 | g.137142050A= | CA1884319609 | GRIN1 | c.296A= (p.Asn99=) n.373A= | |
| 9 | g.137142050A>C | CA375713585 | GRIN1 | c.296A>C (p.Asn99Thr) n.373A>C | |
| 9 | g.137142050A>G | CA5360611 | GRIN1 | c.296A>G (p.Asn99Ser) n.373A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137142050A>T | CA375713584 | GRIN1 | c.296A>T (p.Asn99Ile) n.373A>T | |
| 9 | g.137142051C>A | CA375713586 | GRIN1 | c.297C>A (p.Asn99Lys) n.374C>A | dbSNP |
| 9 | g.137142051C= | CA1884319610 | GRIN1 | c.297C= (p.Asn99=) n.374C= | |
| 9 | g.137142051C>G | CA375713587 | GRIN1 | c.297C>G (p.Asn99Lys) n.374C>G | |
| 9 | g.137142051C>T | CA467788961 | GRIN1 | c.297C>T (p.Asn99=) n.374C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137142052G>A | CA375713588 | GRIN1 | c.298G>A (p.Asp100Asn) n.375G>A | gnomAD v4 |
| 9 | g.137142052G>C | CA375713589 | GRIN1 | c.298G>C (p.Asp100His) n.375G>C | |
| 9 | g.137142052G>T | CA375713590 | GRIN1 | c.298G>T (p.Asp100Tyr) n.375G>T | |
| 9 | g.137142053A>C | CA375713591 | GRIN1 | c.299A>C (p.Asp100Ala) n.376A>C | |
| 9 | g.137142053A>G | CA375713592 | GRIN1 | c.299A>G (p.Asp100Gly) n.376A>G | |
| 9 | g.137142053A>T | CA375713593 | GRIN1 | c.299A>T (p.Asp100Val) n.376A>T | gnomAD v4 |
| 9 | g.137142054C>A | CA375713594 | GRIN1 | c.300C>A (p.Asp100Glu) n.377C>A | |
| 9 | g.137142054C>G | CA375713595 | GRIN1 | c.300C>G (p.Asp100Glu) n.377C>G | |
| 9 | g.137142054C>T | CA467788962 | GRIN1 | c.300C>T (p.Asp100=) n.377C>T | |
| 9 | g.137142055C>A | CA375713596 | GRIN1 | c.301C>A (p.His101Asn) n.378C>A | |
| 9 | g.137142055C>G | CA375713597 | GRIN1 | c.301C>G (p.His101Asp) n.378C>G | |
| 9 | g.137142055C>T | CA375713598 | GRIN1 | c.301C>T (p.His101Tyr) n.378C>T | |
| 9 | g.137142056A>C | CA375713599 | GRIN1 | c.302A>C (p.His101Pro) n.379A>C | |
| 9 | g.137142056A>G | CA375713601 | GRIN1 | c.302A>G (p.His101Arg) n.379A>G | |
| 9 | g.137142056A>T | CA375713600 | GRIN1 | c.302A>T (p.His101Leu) n.379A>T | |
| 9 | g.137142057C>A | CA375713602 | GRIN1 | c.303C>A (p.His101Gln) n.380C>A | |
| 9 | g.137142057C= | CA1884319611 | GRIN1 | c.303C= (p.His101=) n.380C= | |
| 9 | g.137142057C>G | CA375713603 | GRIN1 | c.303C>G (p.His101Gln) n.380C>G | |
| 9 | g.137142057C>T | CA5360612 | GRIN1 | c.303C>T (p.His101=) n.380C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142058T>A | CA375713604 | GRIN1 | c.304T>A (p.Phe102Ile) n.381T>A | |
| 9 | g.137142058T>C | CA375713605 | GRIN1 | c.304T>C (p.Phe102Leu) n.381T>C | |
| 9 | g.137142058T>G | CA375713606 | GRIN1 | c.304T>G (p.Phe102Val) n.381T>G | |
| 9 | g.137142059T>A | CA375713607 | GRIN1 | c.305T>A (p.Phe102Tyr) n.382T>A | |
| 9 | g.137142059T>C | CA375713608 | GRIN1 | c.305T>C (p.Phe102Ser) n.382T>C | |
| 9 | g.137142059T>G | CA5360613 | GRIN1 | c.305T>G (p.Phe102Cys) n.382T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137142059T= | CA1884319612 | GRIN1 | c.305T= (p.Phe102=) n.382T= | |
| 9 | g.137142060C>A | CA375713609 | GRIN1 | c.306C>A (p.Phe102Leu) n.383C>A | |
| 9 | g.137142060C>G | CA375713610 | GRIN1 | c.306C>G (p.Phe102Leu) n.383C>G | |
| 9 | g.137142060C>T | CA467788963 | GRIN1 | c.306C>T (p.Phe102=) n.383C>T | |
| 9 | g.137142061A>C | CA375713613 | GRIN1 | c.307A>C (p.Thr103Pro) n.384A>C | |
| 9 | g.137142061A>G | CA375713612 | GRIN1 | c.307A>G (p.Thr103Ala) n.384A>G | |
| 9 | g.137142061A>T | CA375713611 | GRIN1 | c.307A>T (p.Thr103Ser) n.384A>T | |
| 9 | g.137142062C>A | CA375713615 | GRIN1 | c.308C>A (p.Thr103Asn) n.385C>A | |
| 9 | g.137142062C>G | CA375713614 | GRIN1 | c.308C>G (p.Thr103Ser) n.385C>G | |
| 9 | g.137142062C>T | CA375713616 | GRIN1 | c.308C>T (p.Thr103Ile) n.385C>T | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.137142063T>A | CA467788965 | GRIN1 | c.309T>A (p.Thr103=) n.386T>A | |
| 9 | g.137142063T>C | CA467788966 | GRIN1 | c.309T>C (p.Thr103=) n.386T>C | gnomAD v4 |
| 9 | g.137142063T>G | CA467788967 | GRIN1 | c.309T>G (p.Thr103=) n.386T>G | |
| 9 | g.137142064C>A | CA375713617 | GRIN1 | c.310C>A (p.Pro104Thr) n.387C>A | |
| 9 | g.137142064C>G | CA375713618 | GRIN1 | c.310C>G (p.Pro104Ala) n.387C>G | |
| 9 | g.137142064C>T | CA375713619 | GRIN1 | c.310C>T (p.Pro104Ser) n.387C>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.137142065C>A | CA375713620 | GRIN1 | c.311C>A (p.Pro104His) n.388C>A | |
| 9 | g.137142065C>G | CA375713621 | GRIN1 | c.311C>G (p.Pro104Arg) n.388C>G | |
| 9 | g.137142065C>T | CA375713622 | GRIN1 | c.311C>T (p.Pro104Leu) n.388C>T | |
| 9 | g.137142066C>A | CA467788968 | GRIN1 | c.312C>A (p.Pro104=) n.389C>A | |
| 9 | g.137142066C>G | CA467788969 | GRIN1 | c.312C>G (p.Pro104=) n.389C>G | |
| 9 | g.137142066C>T | CA467788970 | GRIN1 | c.312C>T (p.Pro104=) n.389C>T | |
| 9 | g.137142067A= | CA1884319613 | GRIN1 | c.313A= (p.Thr105=) n.390A= | |
| 9 | g.137142067A>C | CA375713623 | GRIN1 | c.313A>C (p.Thr105Pro) n.390A>C | dbSNP |
| 9 | g.137142067A>G | CA375713624 | GRIN1 | c.313A>G (p.Thr105Ala) n.390A>G | |
| 9 | g.137142067A>T | CA375713625 | GRIN1 | c.313A>T (p.Thr105Ser) n.390A>T | |
| 9 | g.137142068C>A | CA375713626 | GRIN1 | c.314C>A (p.Thr105Asn) n.391C>A | |
| 9 | g.137142068C>G | CA375713627 | GRIN1 | c.314C>G (p.Thr105Ser) n.391C>G | |
| 9 | g.137142068C>T | CA375713628 | GRIN1 | c.314C>T (p.Thr105Ile) n.391C>T | |
| 9 | g.137142069C>A | CA467788973 | GRIN1 | c.315C>A (p.Thr105=) n.392C>A | |
| 9 | g.137142069C>G | CA467788971 | GRIN1 | c.315C>G (p.Thr105=) n.392C>G | |
| 9 | g.137142069C>T | CA467788972 | GRIN1 | c.315C>T (p.Thr105=) n.392C>T | ClinVar COSMIC COSMIC |
| 9 | g.137142070C>A | CA375713631 | GRIN1 | c.316C>A (p.Pro106Thr) n.393C>A | |
| 9 | g.137142070C>G | CA375713630 | GRIN1 | c.316C>G (p.Pro106Ala) n.393C>G | |
| 9 | g.137142070C>T | CA375713629 | GRIN1 | c.316C>T (p.Pro106Ser) n.393C>T | gnomAD v4 |
| 9 | g.137142070_137142072delinsCCT | CA1884319614 | GRIN1 | c.316_318delinsCCT (p.Pro106=) n.393_395delinsCCT | |
| 9 | g.137142071C>A | CA375713632 | GRIN1 | c.317C>A (p.Pro106His) n.394C>A | |
| 9 | g.137142071C>G | CA375713633 | GRIN1 | c.317C>G (p.Pro106Arg) n.394C>G | |
| 9 | g.137142071C>T | CA375713634 | GRIN1 | c.317C>T (p.Pro106Leu) n.394C>T | COSMIC COSMIC |
| 9 | g.137142071_137142072del | CA1130087121 | GRIN1 | c.317_318del (p.Pro106ArgfsTer?) n.394_395del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137142072T>A | CA467788977 | GRIN1 | c.318T>A (p.Pro106=) n.395T>A | |
| 9 | g.137142072T>C | CA467788980 | GRIN1 | c.318T>C (p.Pro106=) n.395T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.137142072T>G | CA467788978 | GRIN1 | c.318T>G (p.Pro106=) n.395T>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.137142072T= | CA1884319615 | GRIN1 | c.318T= (p.Pro106=) n.395T= | |
| 9 | g.137142073G>A | CA375713635 | GRIN1 | c.319G>A (p.Val107Ile) n.396G>A | |
| 9 | g.137142073G>C | CA375713636 | GRIN1 | c.319G>C (p.Val107Leu) n.396G>C | |
| 9 | g.137142073G>T | CA375713637 | GRIN1 | c.319G>T (p.Val107Phe) n.396G>T | |
| 9 | g.137142074T>A | CA375713638 | GRIN1 | c.320T>A (p.Val107Asp) n.397T>A | |
| 9 | g.137142074T>C | CA375713639 | GRIN1 | c.320T>C (p.Val107Ala) n.397T>C | dbSNP |
| 9 | g.137142074T>G | CA375713640 | GRIN1 | c.320T>G (p.Val107Gly) n.397T>G | |
| 9 | g.137142075C>A | CA467788985 | GRIN1 | c.321C>A (p.Val107=) n.398C>A | |
| 9 | g.137142075C>G | CA467788987 | GRIN1 | c.321C>G (p.Val107=) n.398C>G | |
| 9 | g.137142075C>T | CA467788983 | GRIN1 | c.321C>T (p.Val107=) n.398C>T | |
| 9 | g.137142076T>A | CA375713641 | GRIN1 | c.322T>A (p.Ser108Thr) n.399T>A | |
| 9 | g.137142076T>C | CA375713642 | GRIN1 | c.322T>C (p.Ser108Pro) n.399T>C | |
| 9 | g.137142076T>G | CA375713643 | GRIN1 | c.322T>G (p.Ser108Ala) n.399T>G | |
| 9 | g.137142077C>A | CA375713646 | GRIN1 | c.323C>A (p.Ser108Tyr) n.400C>A | |
| 9 | g.137142077C>G | CA375713645 | GRIN1 | c.323C>G (p.Ser108Cys) n.400C>G | |
| 9 | g.137142077C>T | CA375713644 | GRIN1 | c.323C>T (p.Ser108Phe) n.400C>T | |
| 9 | g.137142078C>A | CA467788992 | GRIN1 | c.324C>A (p.Ser108=) n.401C>A | |
| 9 | g.137142078C>G | CA467788993 | GRIN1 | c.324C>G (p.Ser108=) n.401C>G | |
| 9 | g.137142078C>T | CA467788994 | GRIN1 | c.324C>T (p.Ser108=) n.401C>T | |
| 9 | g.137142079T>A | CA375713647 | GRIN1 | c.325T>A (p.Tyr109Asn) n.402T>A | |
| 9 | g.137142079T>C | CA375713648 | GRIN1 | c.325T>C (p.Tyr109His) n.402T>C | |
| 9 | g.137142079T>G | CA375713649 | GRIN1 | c.325T>G (p.Tyr109Asp) n.402T>G | |
| 9 | g.137142080A>C | CA375713650 | GRIN1 | c.326A>C (p.Tyr109Ser) n.403A>C | |
| 9 | g.137142080A>G | CA375713651 | GRIN1 | c.326A>G (p.Tyr109Cys) n.403A>G | |
| 9 | g.137142080A>T | CA375713652 | GRIN1 | c.326A>T (p.Tyr109Phe) n.403A>T | |
| 9 | g.137142081C>A | CA375713654 | GRIN1 | c.327C>A (p.Tyr109Ter) n.404C>A | |
| 9 | g.137142081C>G | CA375713653 | GRIN1 | c.327C>G (p.Tyr109Ter) n.404C>G | |
| 9 | g.137142081C>T | CA467788996 | GRIN1 | c.327C>T (p.Tyr109=) n.404C>T | gnomAD v4 |
| 9 | g.137142082A>C | CA375713655 | GRIN1 | c.328A>C (p.Thr110Pro) n.405A>C | |
| 9 | g.137142082A>G | CA375713656 | GRIN1 | c.328A>G (p.Thr110Ala) n.405A>G | |
| 9 | g.137142082A>T | CA375713657 | GRIN1 | c.328A>T (p.Thr110Ser) n.405A>T | |
| 9 | g.137142083C>A | CA375713658 | GRIN1 | c.329C>A (p.Thr110Lys) n.406C>A | |
| 9 | g.137142083C= | CA1884319616 | GRIN1 | c.329C= (p.Thr110=) n.406C= | |
| 9 | g.137142083C>G | CA375713659 | GRIN1 | c.329C>G (p.Thr110Arg) n.406C>G | |
| 9 | g.137142083C>T | CA16618807 | GRIN1 | c.329C>T (p.Thr110Ile) n.406C>T | ClinVar dbSNP |
| 9 | g.137142084A>C | CA467788998 | GRIN1 | c.330A>C (p.Thr110=) n.407A>C | |
| 9 | g.137142084A>G | CA467788999 | GRIN1 | c.330A>G (p.Thr110=) n.407A>G | |
| 9 | g.137142084A>T | CA467789000 | GRIN1 | c.330A>T (p.Thr110=) n.407A>T | |
| 9 | g.137142085G>A | CA375713660 | GRIN1 | c.331G>A (p.Ala111Thr) n.408G>A | dbSNP |
| 9 | g.137142085G>C | CA375713662 | GRIN1 | c.331G>C (p.Ala111Pro) n.408G>C | |
| 9 | g.137142085G= | CA1884319617 | GRIN1 | c.331G= (p.Ala111=) n.408G= | |
| 9 | g.137142085G>T | CA375713661 | GRIN1 | c.331G>T (p.Ala111Ser) n.408G>T | |
| 9 | g.137142086C>A | CA375713663 | GRIN1 | c.332C>A (p.Ala111Asp) n.409C>A | |
| 9 | g.137142086C>G | CA375713664 | GRIN1 | c.332C>G (p.Ala111Gly) n.409C>G | |
| 9 | g.137142086C>T | CA375713665 | GRIN1 | c.332C>T (p.Ala111Val) n.409C>T | |
| 9 | g.137142087C>A | CA467789002 | GRIN1 | c.333C>A (p.Ala111=) n.410C>A | |
| 9 | g.137142087C= | CA1884319618 | GRIN1 | c.333C= (p.Ala111=) n.410C= | |
| 9 | g.137142087C>G | CA467789003 | GRIN1 | c.333C>G (p.Ala111=) n.410C>G | |
| 9 | g.137142087C>T | CA5360614 | GRIN1 | c.333C>T (p.Ala111=) n.410C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142088G>A | CA201728581 | GRIN1 | c.334G>A (p.Gly112Ser) n.411G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137142088G>C | CA375713666 | GRIN1 | c.334G>C (p.Gly112Arg) n.411G>C | |
| 9 | g.137142088G= | CA1884319619 | GRIN1 | c.334G= (p.Gly112=) n.411G= | |
| 9 | g.137142088G>T | CA375713667 | GRIN1 | c.334G>T (p.Gly112Cys) n.411G>T | |
| 9 | g.137142089G>A | CA375713668 | GRIN1 | c.335G>A (p.Gly112Asp) n.412G>A | |
| 9 | g.137142089G>C | CA375713669 | GRIN1 | c.335G>C (p.Gly112Ala) n.412G>C | |
| 9 | g.137142089G>T | CA375713670 | GRIN1 | c.335G>T (p.Gly112Val) n.412G>T | gnomAD v4 |
| 9 | g.137142090C>A | CA201728603 | GRIN1 | c.336C>A (p.Gly112=) n.413C>A | dbSNP |
| 9 | g.137142090C= | CA1884319620 | GRIN1 | c.336C= (p.Gly112=) n.413C= | |
| 9 | g.137142090C>G | CA467789005 | GRIN1 | c.336C>G (p.Gly112=) n.413C>G | |
| 9 | g.137142090C>T | CA467789007 | GRIN1 | c.336C>T (p.Gly112=) n.413C>T | |
| 9 | g.137142091T>A | CA375713672 | GRIN1 | c.337T>A (p.Phe113Ile) n.414T>A | |
| 9 | g.137142091T>C | CA375713673 | GRIN1 | c.337T>C (p.Phe113Leu) n.414T>C | |
| 9 | g.137142091T>G | CA375713671 | GRIN1 | c.337T>G (p.Phe113Val) n.414T>G | |
| 9 | g.137142092T>A | CA375713674 | GRIN1 | c.338T>A (p.Phe113Tyr) n.415T>A | |
| 9 | g.137142092T>C | CA375713676 | GRIN1 | c.338T>C (p.Phe113Ser) n.415T>C | gnomAD v4 |
| 9 | g.137142092T>G | CA375713675 | GRIN1 | c.338T>G (p.Phe113Cys) n.415T>G | |
| 9 | g.137142093C>A | CA375713677 | GRIN1 | c.339C>A (p.Phe113Leu) n.416C>A | COSMIC |
| 9 | g.137142093C>G | CA375713678 | GRIN1 | c.339C>G (p.Phe113Leu) n.416C>G | |
| 9 | g.137142093C>T | CA467789012 | GRIN1 | c.339C>T (p.Phe113=) n.416C>T | |
| 9 | g.137142094T>A | CA375713679 | GRIN1 | c.340T>A (p.Tyr114Asn) n.417T>A | |
| 9 | g.137142094T>C | CA375713680 | GRIN1 | c.340T>C (p.Tyr114His) n.417T>C | |
| 9 | g.137142094T>G | CA375713681 | GRIN1 | c.340T>G (p.Tyr114Asp) n.417T>G | |
| 9 | g.137142095A>C | CA375713682 | GRIN1 | c.341A>C (p.Tyr114Ser) n.418A>C | |
| 9 | g.137142095A>G | CA375713683 | GRIN1 | c.341A>G (p.Tyr114Cys) n.418A>G | |
| 9 | g.137142095A>T | CA375713684 | GRIN1 | c.341A>T (p.Tyr114Phe) n.418A>T | |
| 9 | g.137142096C>A | CA375713685 | GRIN1 | c.342C>A (p.Tyr114Ter) n.419C>A | |
| 9 | g.137142096C>G | CA375713686 | GRIN1 | c.342C>G (p.Tyr114Ter) n.419C>G | |
| 9 | g.137142096C>T | CA467789015 | GRIN1 | c.342C>T (p.Tyr114=) n.419C>T | |
| 9 | g.137142097C>A | CA375713687 | GRIN1 | c.343C>A (p.Arg115Ser) n.420C>A | |
| 9 | g.137142097C= | CA1884319621 | GRIN1 | c.343C= (p.Arg115=) n.420C= | |
| 9 | g.137142097C>G | CA375713688 | GRIN1 | c.343C>G (p.Arg115Gly) n.420C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137142097C>T | CA375713689 | GRIN1 | c.343C>T (p.Arg115Cys) n.420C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142098G>A | CA5360615 | GRIN1 | c.344G>A (p.Arg115His) n.421G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142098G>C | CA375713690 | GRIN1 | c.344G>C (p.Arg115Pro) n.421G>C | |
| 9 | g.137142098G= | CA1884319622 | GRIN1 | c.344G= (p.Arg115=) n.421G= | |
| 9 | g.137142098G>T | CA375713691 | GRIN1 | c.344G>T (p.Arg115Leu) n.421G>T | COSMIC COSMIC |
| 9 | g.137142099C>A | CA467789017 | GRIN1 | c.345C>A (p.Arg115=) n.422C>A | |
| 9 | g.137142099C= | CA1884319623 | GRIN1 | c.345C= (p.Arg115=) n.422C= | |
| 9 | g.137142099C>G | CA467789019 | GRIN1 | c.345C>G (p.Arg115=) n.422C>G | |
| 9 | g.137142099C>T | CA5360616 | GRIN1 | c.345C>T (p.Arg115=) n.422C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137142100A>C | CA375713692 | GRIN1 | c.346A>C (p.Ile116Leu) n.423A>C | |
| 9 | g.137142100A>G | CA375713693 | GRIN1 | c.346A>G (p.Ile116Val) n.423A>G | |
| 9 | g.137142100A>T | CA375713694 | GRIN1 | c.346A>T (p.Ile116Leu) n.423A>T | |
| 9 | g.137142101T>A | CA375713695 | GRIN1 | c.347T>A (p.Ile116Lys) n.424T>A | gnomAD v4 |
| 9 | g.137142101T>C | CA375713696 | GRIN1 | c.347T>C (p.Ile116Thr) n.424T>C | |
| 9 | g.137142101T>G | CA375713697 | GRIN1 | c.347T>G (p.Ile116Arg) n.424T>G | |
| 9 | g.137142102A>C | CA467789021 | GRIN1 | c.348A>C (p.Ile116=) n.425A>C | |
| 9 | g.137142102A>G | CA375713698 | GRIN1 | c.348A>G (p.Ile116Met) n.425A>G | |
| 9 | g.137142102A>T | CA467789020 | GRIN1 | c.348A>T (p.Ile116=) n.425A>T | |
| 9 | g.137142103C>A | CA375713699 | GRIN1 | c.349C>A (p.Pro117Thr) n.426C>A | |
| 9 | g.137142103C= | CA1884319624 | GRIN1 | c.349C= (p.Pro117=) n.426C= | |
| 9 | g.137142103C>G | CA375713700 | GRIN1 | c.349C>G (p.Pro117Ala) n.426C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137142103C>T | CA375713701 | GRIN1 | c.349C>T (p.Pro117Ser) n.426C>T | gnomAD v4 |
| 9 | g.137142104C>A | CA375713702 | GRIN1 | c.350C>A (p.Pro117His) n.427C>A | |
| 9 | g.137142104C= | CA1884319625 | GRIN1 | c.350C= (p.Pro117=) n.427C= | |
| 9 | g.137142104C>G | CA375713703 | GRIN1 | c.350C>G (p.Pro117Arg) n.427C>G | |
| 9 | g.137142104C>T | CA174336 | GRIN1 | c.350C>T (p.Pro117Leu) n.427C>T | ClinVar dbSNP COSMIC |
| 9 | g.137142105C>A | CA5360617 | GRIN1 | c.351C>A (p.Pro117=) n.428C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142105C= | CA1884319626 | GRIN1 | c.351C= (p.Pro117=) n.428C= | |
| 9 | g.137142105C>G | CA467789022 | GRIN1 | c.351C>G (p.Pro117=) n.428C>G | ClinVar dbSNP |
| 9 | g.137142105C>T | CA201728633 | GRIN1 | c.351C>T (p.Pro117=) n.428C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142106G>A | CA375713704 | GRIN1 | c.352G>A (p.Val118Met) n.429G>A | ClinVar dbSNP |
| 9 | g.137142106G>C | CA375713705 | GRIN1 | c.352G>C (p.Val118Leu) n.429G>C | |
| 9 | g.137142106G= | CA1884319627 | GRIN1 | c.352G= (p.Val118=) n.429G= | |
| 9 | g.137142106G>T | CA375713706 | GRIN1 | c.352G>T (p.Val118Leu) n.429G>T | |
| 9 | g.137142107T>A | CA375713709 | GRIN1 | c.353T>A (p.Val118Glu) n.430T>A | |
| 9 | g.137142107T>C | CA375713708 | GRIN1 | c.353T>C (p.Val118Ala) n.430T>C | |
| 9 | g.137142107T>G | CA375713707 | GRIN1 | c.353T>G (p.Val118Gly) n.430T>G | |
| 9 | g.137142108G>A | CA467789024 | GRIN1 | c.354G>A (p.Val118=) n.431G>A | |
| 9 | g.137142108G>C | CA467789025 | GRIN1 | c.354G>C (p.Val118=) n.431G>C | |
| 9 | g.137142108G>T | CA467789026 | GRIN1 | c.354G>T (p.Val118=) n.431G>T | |
| 9 | g.137142109C>A | CA375713710 | GRIN1 | c.355C>A (p.Leu119Met) n.432C>A | |
| 9 | g.137142109C>G | CA375713711 | GRIN1 | c.355C>G (p.Leu119Val) n.432C>G | |
| 9 | g.137142109C>T | CA467789027 | GRIN1 | c.355C>T (p.Leu119=) n.432C>T | |
| 9 | g.137142110T>A | CA375713712 | GRIN1 | c.356T>A (p.Leu119Gln) n.433T>A | |
| 9 | g.137142110T>C | CA375713713 | GRIN1 | c.356T>C (p.Leu119Pro) n.433T>C | |
| 9 | g.137142110T>G | CA375713714 | GRIN1 | c.356T>G (p.Leu119Arg) n.433T>G | |
| 9 | g.137142110_137142111delinsTG | CA1884319628 | GRIN1 | c.356_357delinsTG (p.Leu119=) n.433_434delinsTG | |
| 9 | g.137142111G>A | CA206955 | GRIN1 | c.357G>A (p.Leu119=) n.434G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137142111G>C | CA467789028 | GRIN1 | c.357G>C (p.Leu119=) n.434G>C | |
| 9 | g.137142111G= | CA1884319629 | GRIN1 | c.357G= (p.Leu119=) n.434G= | |
| 9 | g.137142111G>T | CA467789029 | GRIN1 | c.357G>T (p.Leu119=) n.434G>T | gnomAD v4 |
| 9 | g.137142114del | CA591215272 | GRIN1 | c.360del (p.Leu121Ter) n.437del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137142112G>A | CA375713715 | GRIN1 | c.358G>A (p.Gly120Arg) n.435G>A | |
| 9 | g.137142112G>C | CA375713717 | GRIN1 | c.358G>C (p.Gly120Arg) n.435G>C | COSMIC COSMIC |
| 9 | g.137142112G>T | CA375713716 | GRIN1 | c.358G>T (p.Gly120Trp) n.435G>T | |
| 9 | g.137142113G>A | CA375713718 | GRIN1 | c.359G>A (p.Gly120Glu) n.436G>A | |
| 9 | g.137142113G>C | CA375713719 | GRIN1 | c.359G>C (p.Gly120Ala) n.436G>C | |
| 9 | g.137142113G>T | CA375713720 | GRIN1 | c.359G>T (p.Gly120Val) n.436G>T | |
| 9 | g.137142114G>A | CA467789030 | GRIN1 | c.360G>A (p.Gly120=) n.437G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137142114G>C | CA467789031 | GRIN1 | c.360G>C (p.Gly120=) n.437G>C | |
| 9 | g.137142114G= | CA1884319630 | GRIN1 | c.360G= (p.Gly120=) n.437G= | |
| 9 | g.137142114G>T | CA467789032 | GRIN1 | c.360G>T (p.Gly120=) n.437G>T | gnomAD v4 |
| 9 | g.137142115C>A | CA375713721 | GRIN1 | c.361C>A (p.Leu121Met) n.438C>A | |
| 9 | g.137142115C>G | CA375713722 | GRIN1 | c.361C>G (p.Leu121Val) n.438C>G | |
| 9 | g.137142115C>T | CA467789033 | GRIN1 | c.361C>T (p.Leu121=) n.438C>T | |
| 9 | g.137142116T>A | CA375713723 | GRIN1 | c.362T>A (p.Leu121Gln) n.439T>A | |
| 9 | g.137142116T>C | CA375713724 | GRIN1 | c.362T>C (p.Leu121Pro) n.439T>C | ClinVar gnomAD v4 |
| 9 | g.137142116T>G | CA375713725 | GRIN1 | c.362T>G (p.Leu121Arg) n.439T>G | |
| 9 | g.137142117G>A | CA467789034 | GRIN1 | c.363G>A (p.Leu121=) n.440G>A | |
| 9 | g.137142117G>C | CA467789036 | GRIN1 | c.363G>C (p.Leu121=) n.440G>C | |
| 9 | g.137142117G>T | CA467789035 | GRIN1 | c.363G>T (p.Leu121=) n.440G>T | |
| 9 | g.137142118A>C | CA375713726 | GRIN1 | c.364A>C (p.Thr122Pro) n.441A>C | |
| 9 | g.137142118A>G | CA375713727 | GRIN1 | c.364A>G (p.Thr122Ala) n.441A>G | COSMIC COSMIC |
| 9 | g.137142118A>T | CA375713728 | GRIN1 | c.364A>T (p.Thr122Ser) n.441A>T | |
| 9 | g.137142119C>A | CA375713731 | GRIN1 | c.365C>A (p.Thr122Asn) n.442C>A | |
| 9 | g.137142119C>G | CA375713730 | GRIN1 | c.365C>G (p.Thr122Ser) n.442C>G | |
| 9 | g.137142119C>T | CA375713729 | GRIN1 | c.365C>T (p.Thr122Ile) n.442C>T | ClinVar |
| 9 | g.137142120C>A | CA467789037 | GRIN1 | c.366C>A (p.Thr122=) n.443C>A | |
| 9 | g.137142120C>G | CA467789038 | GRIN1 | c.366C>G (p.Thr122=) n.443C>G | |
| 9 | g.137142120C>T | CA467789039 | GRIN1 | c.366C>T (p.Thr122=) n.443C>T | |
| 9 | g.137142121A= | CA1884319631 | GRIN1 | c.367A= (p.Thr123=) n.444A= | |
| 9 | g.137142121A>C | CA375713732 | GRIN1 | c.367A>C (p.Thr123Pro) n.444A>C | dbSNP |
| 9 | g.137142121A>G | CA375713734 | GRIN1 | c.367A>G (p.Thr123Ala) n.444A>G | |
| 9 | g.137142121A>T | CA375713733 | GRIN1 | c.367A>T (p.Thr123Ser) n.444A>T | |
| 9 | g.137142122C>A | CA375713735 | GRIN1 | c.368C>A (p.Thr123Asn) n.445C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137142122C= | CA1884319632 | GRIN1 | c.368C= (p.Thr123=) n.445C= | |
| 9 | g.137142122C>G | CA375713736 | GRIN1 | c.368C>G (p.Thr123Ser) n.445C>G | |
| 9 | g.137142122C>T | CA375713737 | GRIN1 | c.368C>T (p.Thr123Ile) n.445C>T | gnomAD v4 |