| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75005906A= | CA2147299463 | EIF2B2 | c.638A= (p.Glu213=) c.636A= (n.636A=) c.2A= (p.Glu1=) c.607A= (p.Arg203=) | |
| 14 | g.75005906A>C | CA390426532 | EIF2B2 | c.638A>C (p.Glu213Ala) c.636A>C (n.636A>C) c.2A>C (p.Glu1Ala) c.607A>C (p.Arg203=) | |
| 14 | g.75005906A>G | CA116769 | EIF2B2 | c.638A>G (p.Glu213Gly) c.636A>G (n.636A>G) c.2A>G (p.Glu1Gly) c.607A>G (p.Arg203Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75005906A>T | CA390426536 | EIF2B2 | c.638A>T (p.Glu213Val) c.636A>T (n.636A>T) c.2A>T (p.Glu1Val) c.607A>T (p.Arg203Ter) | |
| 14 | g.75005907G>A | CA487177290 | EIF2B2 | c.639G>A (p.Glu213=) c.637G>A (n.637G>A) c.3G>A (p.Glu1=) c.608G>A (p.Arg203Lys) | |
| 14 | g.75005907G>C | CA390426539 | EIF2B2 | c.639G>C (p.Glu213Asp) c.637G>C (n.637G>C) c.3G>C (p.Glu1Asp) c.608G>C (p.Arg203Thr) | gnomAD v4 |
| 14 | g.75005907G>T | CA390426541 | EIF2B2 | c.639G>T (p.Glu213Asp) c.637G>T (n.637G>T) c.3G>T (p.Glu1Asp) c.608G>T (p.Arg203Ile) | |
| 14 | g.75005908A>C | CA390426543 | EIF2B2 | c.640A>C (p.Thr214Pro) c.638A>C (n.638A>C) c.4A>C (p.Thr2Pro) c.609A>C (p.Arg203Ser) | |
| 14 | g.75005908A>G | CA390426546 | EIF2B2 | c.640A>G (p.Thr214Ala) c.638A>G (n.638A>G) c.4A>G (p.Thr2Ala) c.609A>G (p.Arg203=) | |
| 14 | g.75005908A>T | CA390426554 | EIF2B2 | c.640A>T (p.Thr214Ser) c.638A>T (n.638A>T) c.4A>T (p.Thr2Ser) c.609A>T (p.Arg203Ser) | |
| 14 | g.75005909C>A | CA390426555 | EIF2B2 | c.641C>A (p.Thr214Lys) c.639C>A (n.639C>A) c.5C>A (p.Thr2Lys) c.610C>A (p.Gln204Lys) | |
| 14 | g.75005909C>G | CA390426559 | EIF2B2 | c.641C>G (p.Thr214Arg) c.639C>G (n.639C>G) c.5C>G (p.Thr2Arg) c.610C>G (p.Gln204Glu) | |
| 14 | g.75005909C>T | CA390426557 | EIF2B2 | c.641C>T (p.Thr214Ile) c.639C>T (n.639C>T) c.5C>T (p.Thr2Ile) c.610C>T (p.Gln204Ter) | |
| 14 | g.75005910A>C | CA487177294 | EIF2B2 | c.642A>C (p.Thr214=) c.640A>C (n.640A>C) c.6A>C (p.Thr2=) c.611A>C (p.Gln204Pro) | gnomAD v4 |
| 14 | g.75005910A>G | CA487177296 | EIF2B2 | c.642A>G (p.Thr214=) c.640A>G (n.640A>G) c.6A>G (p.Thr2=) c.611A>G (p.Gln204Arg) | |
| 14 | g.75005910A>T | CA487177298 | EIF2B2 | c.642A>T (p.Thr214=) c.640A>T (n.640A>T) c.6A>T (p.Thr2=) c.611A>T (p.Gln204Leu) | |
| 14 | g.75005911A>C | CA390426561 | EIF2B2 | c.643A>C (p.Thr215Pro) c.641A>C (n.641A>C) c.7A>C (p.Thr3Pro) c.612A>C (p.Gln204His) | gnomAD v4 |
| 14 | g.75005911A>G | CA390426563 | EIF2B2 | c.643A>G (p.Thr215Ala) c.641A>G (n.641A>G) c.7A>G (p.Thr3Ala) c.612A>G (p.Gln204=) | |
| 14 | g.75005911A>T | CA390426564 | EIF2B2 | c.643A>T (p.Thr215Ser) c.641A>T (n.641A>T) c.7A>T (p.Thr3Ser) c.612A>T (p.Gln204His) | |
| 14 | g.75005912C>A | CA390426565 | EIF2B2 | c.644C>A (p.Thr215Asn) c.642C>A (n.642C>A) c.8C>A (p.Thr3Asn) c.613C>A (p.Leu205Met) | |
| 14 | g.75005912C= | CA2147299464 | EIF2B2 | c.644C= (p.Thr215=) c.642C= (n.642C=) c.8C= (p.Thr3=) c.613C= (p.Leu205=) | |
| 14 | g.75005912C>G | CA390426566 | EIF2B2 | c.644C>G (p.Thr215Ser) c.642C>G (n.642C>G) c.8C>G (p.Thr3Ser) c.613C>G (p.Leu205Val) | |
| 14 | g.75005912C>T | CA390426567 | EIF2B2 | c.644C>T (p.Thr215Ile) c.642C>T (n.642C>T) c.8C>T (p.Thr3Ile) c.613C>T (p.Leu205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75005913T>A | CA487177300 | EIF2B2 | c.645T>A (p.Thr215=) c.643T>A (n.643T>A) c.9T>A (p.Thr3=) c.614T>A (p.Leu205Gln) | |
| 14 | g.75005913T>C | CA487177301 | EIF2B2 | c.645T>C (p.Thr215=) c.643T>C (n.643T>C) c.9T>C (p.Thr3=) c.614T>C (p.Leu205Pro) | gnomAD v4 |
| 14 | g.75005913T>G | CA487177302 | EIF2B2 | c.645T>G (p.Thr215=) c.643T>G (n.643T>G) c.9T>G (p.Thr3=) c.614T>G (p.Leu205Arg) | |
| 14 | g.75005914G>A | CA390426569 | EIF2B2 | c.646G>A (p.Val216Ile) c.644G>A (n.644G>A) c.10G>A (p.Val4Ile) c.615G>A (p.Leu205=) | |
| 14 | g.75005914G>C | CA390426572 | EIF2B2 | c.646G>C (p.Val216Leu) c.644G>C (n.644G>C) c.10G>C (p.Val4Leu) c.615G>C (p.Leu205=) | |
| 14 | g.75005914G>T | CA390426573 | EIF2B2 | c.646G>T (p.Val216Phe) c.644G>T (n.644G>T) c.10G>T (p.Val4Phe) c.615G>T (p.Leu205=) | |
| 14 | g.75005915T>A | CA390426575 | EIF2B2 | c.647T>A (p.Val216Asp) c.645T>A (n.645T>A) c.11T>A (p.Val4Asp) c.616T>A (p.Ser206Thr) | |
| 14 | g.75005915T>C | CA390426578 | EIF2B2 | c.647T>C (p.Val216Ala) c.645T>C (n.645T>C) c.11T>C (p.Val4Ala) c.616T>C (p.Ser206Pro) | |
| 14 | g.75005915T>G | CA390426581 | EIF2B2 | c.647T>G (p.Val216Gly) c.645T>G (n.645T>G) c.11T>G (p.Val4Gly) c.616T>G (p.Ser206Ala) | |
| 14 | g.75005916C>A | CA487177305 | EIF2B2 | c.648C>A (p.Val216=) c.646C>A (n.646C>A) c.12C>A (p.Val4=) c.617C>A (p.Ser206Ter) | gnomAD v4 |
| 14 | g.75005916C>G | CA487177309 | EIF2B2 | c.648C>G (p.Val216=) c.646C>G (n.646C>G) c.12C>G (p.Val4=) c.617C>G (p.Ser206Ter) | |
| 14 | g.75005916C>T | CA487177307 | EIF2B2 | c.648C>T (p.Val216=) c.646C>T (n.646C>T) c.12C>T (p.Val4=) c.617C>T (p.Ser206Leu) | |
| 14 | g.75005917A>C | CA390426588 | EIF2B2 | c.649A>C (p.Met217Leu) c.647A>C (n.647A>C) c.13A>C (p.Met5Leu) c.618A>C (p.Ser206=) | |
| 14 | g.75005917A>G | CA390426586 | EIF2B2 | c.649A>G (p.Met217Val) c.647A>G (n.647A>G) c.13A>G (p.Met5Val) c.618A>G (p.Ser206=) | |
| 14 | g.75005917A>T | CA390426583 | EIF2B2 | c.649A>T (p.Met217Leu) c.647A>T (n.647A>T) c.13A>T (p.Met5Leu) c.618A>T (p.Ser206=) | |
| 14 | g.75005918T>A | CA390426591 | EIF2B2 | c.650T>A (p.Met217Lys) c.648T>A (n.648T>A) c.14T>A (p.Met5Lys) c.619T>A (p.Ter207Arg) | |
| 14 | g.75005918T>C | CA390426593 | EIF2B2 | c.650T>C (p.Met217Thr) c.648T>C (n.648T>C) c.14T>C (p.Met5Thr) c.619T>C (p.Ter207Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75005918T>G | CA390426595 | EIF2B2 | c.650T>G (p.Met217Arg) c.648T>G (n.648T>G) c.14T>G (p.Met5Arg) c.619T>G (p.Ter207Gly) | |
| 14 | g.75005918T= | CA2147299465 | EIF2B2 | c.650T= (p.Met217=) c.648T= (n.648T=) c.14T= (p.Met5=) c.619T= (p.Ter207=) | |
| 14 | g.75005919G>A | CA390426598 | EIF2B2 | c.651G>A (p.Met217Ile) c.649G>A (n.649G>A) c.15G>A (p.Met5Ile) c.620G>A (p.Ter207=) | |
| 14 | g.75005919G>C | CA390426599 | EIF2B2 | c.651G>C (p.Met217Ile) c.649G>C (n.649G>C) c.15G>C (p.Met5Ile) c.620G>C (p.Ter207Ser) | |
| 14 | g.75005919G>T | CA390426600 | EIF2B2 | c.651G>T (p.Met217Ile) c.649G>T (n.649G>T) c.15G>T (p.Met5Ile) c.620G>T (p.Ter207Leu) | |
| 14 | g.75005920A>C | CA390426603 | EIF2B2 | c.652A>C (p.Thr218Pro) c.650A>C (n.650A>C) c.16A>C (p.Thr6Pro) c.621A>C (p.Ter207Cys) | |
| 14 | g.75005920A>G | CA390426606 | EIF2B2 | c.652A>G (p.Thr218Ala) c.650A>G (n.650A>G) c.16A>G (p.Thr6Ala) c.621A>G (p.Ter207Trp) | |
| 14 | g.75005920A>T | CA390426608 | EIF2B2 | c.652A>T (p.Thr218Ser) c.650A>T (n.650A>T) c.16A>T (p.Thr6Ser) c.621A>T (p.Ter207Cys) | |
| 14 | g.75005921C>A | CA390426609 | EIF2B2 | c.653C>A (p.Thr218Asn) c.651C>A (n.651C>A) c.17C>A (p.Thr6Asn) c.*1C>A (n.*1C>A) | |
| 14 | g.75005921C= | CA2147299466 | EIF2B2 | c.653C= (p.Thr218=) c.651C= (n.651C=) c.17C= (p.Thr6=) c.*1C= (n.*1C=) |