| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915298_51915305delinsCGGCTCCC | CA2036269448 | ACVRL1 | c.576_583delinsCGGCTCCC (p.His192=) c.846_853delinsCGGCTCCC (p.His282=) c.324_331delinsCGGCTCCC (p.His108=) c.888_895delinsCGGCTCCC (p.His296=) c.57_64delinsCGGCTCCC (p.His19=) | |
| 12 | g.51915299_51915305delinsTT | CA1139662700 | ACVRL1 | c.577_583delinsTT (p.Gly193PhefsTer?) c.847_853delinsTT (p.Gly283PhefsTer?) c.325_331delinsTT (p.Gly109PhefsTer?) c.889_895delinsTT (p.Gly297PhefsTer?) c.58_64delinsTT (p.Gly20PhefsTer?) | ClinVar dbSNP |
| 12 | g.51915303_51915357del | CA2739272048 | ACVRL1 | c.581_635del (p.Ser194Ter) c.851_905del (p.Ser284Ter) c.329_383del (p.Ser110Ter) c.893_947del (p.Ser298Ter) c.62_116del (p.Ser21Ter) | ClinVar |
| 12 | g.51915305dup | CA2695216742 | ACVRL1 | c.583dup (p.Leu195ProfsTer?) c.853dup (p.Leu285ProfsTer?) c.331dup (p.Leu111ProfsTer?) c.895dup (p.Leu299ProfsTer?) c.64dup (p.Leu22ProfsTer?) | |
| 12 | g.51915305C>A | CA384900559 | ACVRL1 | c.583C>A (p.Leu195Ile) c.853C>A (p.Leu285Ile) c.331C>A (p.Leu111Ile) c.895C>A (p.Leu299Ile) c.64C>A (p.Leu22Ile) | |
| 12 | g.51915305C= | CA2036269453 | ACVRL1 | c.583C= (p.Leu195=) c.853C= (p.Leu285=) c.331C= (p.Leu111=) c.895C= (p.Leu299=) c.64C= (p.Leu22=) | |
| 12 | g.51915305C>G | CA384900560 | ACVRL1 | c.583C>G (p.Leu195Val) c.853C>G (p.Leu285Val) c.331C>G (p.Leu111Val) c.895C>G (p.Leu299Val) c.64C>G (p.Leu22Val) | |
| 12 | g.51915305C>T | CA384900562 | ACVRL1 | c.583C>T (p.Leu195Phe) c.853C>T (p.Leu285Phe) c.331C>T (p.Leu111Phe) c.895C>T (p.Leu299Phe) c.64C>T (p.Leu22Phe) | ClinVar dbSNP |
| 12 | g.51915306T>A | CA384900564 | ACVRL1 | c.584T>A (p.Leu195His) c.854T>A (p.Leu285His) c.332T>A (p.Leu111His) c.896T>A (p.Leu299His) c.65T>A (p.Leu22His) | |
| 12 | g.51915306T>C | CA384900566 | ACVRL1 | c.584T>C (p.Leu195Pro) c.854T>C (p.Leu285Pro) c.332T>C (p.Leu111Pro) c.896T>C (p.Leu299Pro) c.65T>C (p.Leu22Pro) | ClinVar dbSNP |
| 12 | g.51915306T>G | CA384900568 | ACVRL1 | c.584T>G (p.Leu195Arg) c.854T>G (p.Leu285Arg) c.332T>G (p.Leu111Arg) c.896T>G (p.Leu299Arg) c.65T>G (p.Leu22Arg) | |
| 12 | g.51915306T= | CA2036269454 | ACVRL1 | c.584T= (p.Leu195=) c.854T= (p.Leu285=) c.332T= (p.Leu111=) c.896T= (p.Leu299=) c.65T= (p.Leu22=) | |
| 12 | g.51915307C>A | CA480063173 | ACVRL1 | c.585C>A (p.Leu195=) c.855C>A (p.Leu285=) c.333C>A (p.Leu111=) c.897C>A (p.Leu299=) c.66C>A (p.Leu22=) | |
| 12 | g.51915307C>G | CA480063174 | ACVRL1 | c.585C>G (p.Leu195=) c.855C>G (p.Leu285=) c.333C>G (p.Leu111=) c.897C>G (p.Leu299=) c.66C>G (p.Leu22=) | |
| 12 | g.51915307C>T | CA480063175 | ACVRL1 | c.585C>T (p.Leu195=) c.855C>T (p.Leu285=) c.333C>T (p.Leu111=) c.897C>T (p.Leu299=) c.66C>T (p.Leu22=) | |
| 12 | g.51915308T>A | CA384900572 | ACVRL1 | c.586T>A (p.Tyr196Asn) c.856T>A (p.Tyr286Asn) c.334T>A (p.Tyr112Asn) c.898T>A (p.Tyr300Asn) c.67T>A (p.Tyr23Asn) | |
| 12 | g.51915308T>C | CA384900571 | ACVRL1 | c.586T>C (p.Tyr196His) c.856T>C (p.Tyr286His) c.334T>C (p.Tyr112His) c.898T>C (p.Tyr300His) c.67T>C (p.Tyr23His) | gnomAD v4 |
| 12 | g.51915308T>G | CA384900569 | ACVRL1 | c.586T>G (p.Tyr196Asp) c.856T>G (p.Tyr286Asp) c.334T>G (p.Tyr112Asp) c.898T>G (p.Tyr300Asp) c.67T>G (p.Tyr23Asp) | |
| 12 | g.51915309A>C | CA384900573 | ACVRL1 | c.587A>C (p.Tyr196Ser) c.857A>C (p.Tyr286Ser) c.335A>C (p.Tyr112Ser) c.899A>C (p.Tyr300Ser) c.68A>C (p.Tyr23Ser) | |
| 12 | g.51915309A>G | CA384900574 | ACVRL1 | c.587A>G (p.Tyr196Cys) c.857A>G (p.Tyr286Cys) c.335A>G (p.Tyr112Cys) c.899A>G (p.Tyr300Cys) c.68A>G (p.Tyr23Cys) | |
| 12 | g.51915309A>T | CA384900575 | ACVRL1 | c.587A>T (p.Tyr196Phe) c.857A>T (p.Tyr286Phe) c.335A>T (p.Tyr112Phe) c.899A>T (p.Tyr300Phe) c.68A>T (p.Tyr23Phe) | |
| 12 | g.51915310C>A | CA384900576 | ACVRL1 | c.588C>A (p.Tyr196Ter) c.858C>A (p.Tyr286Ter) c.336C>A (p.Tyr112Ter) c.900C>A (p.Tyr300Ter) c.69C>A (p.Tyr23Ter) | ClinVar dbSNP |
| 12 | g.51915310C= | CA2036269455 | ACVRL1 | c.588C= (p.Tyr196=) c.858C= (p.Tyr286=) c.336C= (p.Tyr112=) c.900C= (p.Tyr300=) c.69C= (p.Tyr23=) | |
| 12 | g.51915310C>G | CA384900578 | ACVRL1 | c.588C>G (p.Tyr196Ter) c.858C>G (p.Tyr286Ter) c.336C>G (p.Tyr112Ter) c.900C>G (p.Tyr300Ter) c.69C>G (p.Tyr23Ter) | |
| 12 | g.51915310C>T | CA6573009 | ACVRL1 | c.588C>T (p.Tyr196=) c.858C>T (p.Tyr286=) c.336C>T (p.Tyr112=) c.900C>T (p.Tyr300=) c.69C>T (p.Tyr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915310_51915311insA | CA2580086478 | ACVRL1 | c.588_589insA (p.Asp197ArgfsTer?) c.858_859insA (p.Asp287ArgfsTer?) c.336_337insA (p.Asp113ArgfsTer?) c.900_901insA (p.Asp301ArgfsTer?) c.69_70insA (p.Asp24ArgfsTer?) | ClinVar |
| 12 | g.51915311G>A | CA384900580 | ACVRL1 | c.589G>A (p.Asp197Asn) c.859G>A (p.Asp287Asn) c.337G>A (p.Asp113Asn) c.901G>A (p.Asp301Asn) c.70G>A (p.Asp24Asn) | |
| 12 | g.51915311G>C | CA384900581 | ACVRL1 | c.589G>C (p.Asp197His) c.859G>C (p.Asp287His) c.337G>C (p.Asp113His) c.901G>C (p.Asp301His) c.70G>C (p.Asp24His) | gnomAD v4 |
| 12 | g.51915311G>T | CA384900582 | ACVRL1 | c.589G>T (p.Asp197Tyr) c.859G>T (p.Asp287Tyr) c.337G>T (p.Asp113Tyr) c.901G>T (p.Asp301Tyr) c.70G>T (p.Asp24Tyr) | |
| 12 | g.51915312A= | CA2036269456 | ACVRL1 | c.590A= (p.Asp197=) c.860A= (p.Asp287=) c.338A= (p.Asp113=) c.902A= (p.Asp301=) c.71A= (p.Asp24=) | |
| 12 | g.51915312A>C | CA384900584 | ACVRL1 | c.590A>C (p.Asp197Ala) c.860A>C (p.Asp287Ala) c.338A>C (p.Asp113Ala) c.902A>C (p.Asp301Ala) c.71A>C (p.Asp24Ala) | |
| 12 | g.51915312A>G | CA384900585 | ACVRL1 | c.590A>G (p.Asp197Gly) c.860A>G (p.Asp287Gly) c.338A>G (p.Asp113Gly) c.902A>G (p.Asp301Gly) c.71A>G (p.Asp24Gly) | dbSNP |
| 12 | g.51915312A>T | CA384900586 | ACVRL1 | c.590A>T (p.Asp197Val) c.860A>T (p.Asp287Val) c.338A>T (p.Asp113Val) c.902A>T (p.Asp301Val) c.71A>T (p.Asp24Val) | |
| 12 | g.51915313C>A | CA384900590 | ACVRL1 | c.591C>A (p.Asp197Glu) c.861C>A (p.Asp287Glu) c.339C>A (p.Asp113Glu) c.903C>A (p.Asp301Glu) c.72C>A (p.Asp24Glu) | |
| 12 | g.51915313C>G | CA384900588 | ACVRL1 | c.591C>G (p.Asp197Glu) c.861C>G (p.Asp287Glu) c.339C>G (p.Asp113Glu) c.903C>G (p.Asp301Glu) c.72C>G (p.Asp24Glu) | |
| 12 | g.51915313C>T | CA480063176 | ACVRL1 | c.591C>T (p.Asp197=) c.861C>T (p.Asp287=) c.339C>T (p.Asp113=) c.903C>T (p.Asp301=) c.72C>T (p.Asp24=) | |
| 12 | g.51915314T>A | CA384900591 | ACVRL1 | c.592T>A (p.Phe198Ile) c.862T>A (p.Phe288Ile) c.340T>A (p.Phe114Ile) c.904T>A (p.Phe302Ile) c.73T>A (p.Phe25Ile) | |
| 12 | g.51915314T>C | CA384900592 | ACVRL1 | c.592T>C (p.Phe198Leu) c.862T>C (p.Phe288Leu) c.340T>C (p.Phe114Leu) c.904T>C (p.Phe302Leu) c.73T>C (p.Phe25Leu) | |
| 12 | g.51915314T>G | CA384900594 | ACVRL1 | c.592T>G (p.Phe198Val) c.862T>G (p.Phe288Val) c.340T>G (p.Phe114Val) c.904T>G (p.Phe302Val) c.73T>G (p.Phe25Val) | |
| 12 | g.51915316dup | CA913184985 | ACVRL1 | c.594dup (p.Leu199SerfsTer?) c.864dup (p.Leu289SerfsTer?) c.342dup (p.Leu115SerfsTer?) c.906dup (p.Leu303SerfsTer?) c.75dup (p.Leu26SerfsTer?) | ClinVar |
| 12 | g.51915315T>A | CA384900595 | ACVRL1 | c.593T>A (p.Phe198Tyr) c.863T>A (p.Phe288Tyr) c.341T>A (p.Phe114Tyr) c.905T>A (p.Phe302Tyr) c.74T>A (p.Phe25Tyr) | |
| 12 | g.51915315T>C | CA384900597 | ACVRL1 | c.593T>C (p.Phe198Ser) c.863T>C (p.Phe288Ser) c.341T>C (p.Phe114Ser) c.905T>C (p.Phe302Ser) c.74T>C (p.Phe25Ser) | ClinVar dbSNP |
| 12 | g.51915315T>G | CA384900598 | ACVRL1 | c.593T>G (p.Phe198Cys) c.863T>G (p.Phe288Cys) c.341T>G (p.Phe114Cys) c.905T>G (p.Phe302Cys) c.74T>G (p.Phe25Cys) | |
| 12 | g.51915315T= | CA2036269457 | ACVRL1 | c.593T= (p.Phe198=) c.863T= (p.Phe288=) c.341T= (p.Phe114=) c.905T= (p.Phe302=) c.74T= (p.Phe25=) | |
| 12 | g.51915316T>A | CA384900600 | ACVRL1 | c.594T>A (p.Phe198Leu) c.864T>A (p.Phe288Leu) c.342T>A (p.Phe114Leu) c.906T>A (p.Phe302Leu) c.75T>A (p.Phe25Leu) | |
| 12 | g.51915316T>C | CA480063177 | ACVRL1 | c.594T>C (p.Phe198=) c.864T>C (p.Phe288=) c.342T>C (p.Phe114=) c.906T>C (p.Phe302=) c.75T>C (p.Phe25=) | |
| 12 | g.51915316T>G | CA384900601 | ACVRL1 | c.594T>G (p.Phe198Leu) c.864T>G (p.Phe288Leu) c.342T>G (p.Phe114Leu) c.906T>G (p.Phe302Leu) c.75T>G (p.Phe25Leu) | |
| 12 | g.51915317C>A | CA384900603 | ACVRL1 | c.595C>A (p.Leu199Met) c.865C>A (p.Leu289Met) c.343C>A (p.Leu115Met) c.907C>A (p.Leu303Met) c.76C>A (p.Leu26Met) | |
| 12 | g.51915317C>G | CA384900604 | ACVRL1 | c.595C>G (p.Leu199Val) c.865C>G (p.Leu289Val) c.343C>G (p.Leu115Val) c.907C>G (p.Leu303Val) c.76C>G (p.Leu26Val) | |
| 12 | g.51915317C>T | CA480063178 | ACVRL1 | c.595C>T (p.Leu199=) c.865C>T (p.Leu289=) c.343C>T (p.Leu115=) c.907C>T (p.Leu303=) c.76C>T (p.Leu26=) |