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.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=) | |
| 12 | g.51915318T>A | CA384900606 | ACVRL1 | c.596T>A (p.Leu199Gln) c.866T>A (p.Leu289Gln) c.344T>A (p.Leu115Gln) c.908T>A (p.Leu303Gln) c.77T>A (p.Leu26Gln) | |
| 12 | g.51915318T>C | CA384900608 | ACVRL1 | c.596T>C (p.Leu199Pro) c.866T>C (p.Leu289Pro) c.344T>C (p.Leu115Pro) c.908T>C (p.Leu303Pro) c.77T>C (p.Leu26Pro) | ClinVar |
| 12 | g.51915318T>G | CA384900609 | ACVRL1 | c.596T>G (p.Leu199Arg) c.866T>G (p.Leu289Arg) c.344T>G (p.Leu115Arg) c.908T>G (p.Leu303Arg) c.77T>G (p.Leu26Arg) | |
| 12 | g.51915318dup | CA2695216743 | ACVRL1 | c.596dup (p.Gln200AlafsTer?) c.866dup (p.Gln290AlafsTer?) c.344dup (p.Gln116AlafsTer?) c.908dup (p.Gln304AlafsTer?) c.77dup (p.Gln27AlafsTer?) | |
| 12 | g.51915319del | CA645594553 | ACVRL1 | c.597del (p.Gln200ArgfsTer11) c.867del (p.Gln290ArgfsTer11) c.345del (p.Gln116ArgfsTer11) c.909del (p.Gln304ArgfsTer11) c.78del (p.Gln27ArgfsTer11) | COSMIC COSMIC |
| 12 | g.51915319G>A | CA480063179 | ACVRL1 | c.597G>A (p.Leu199=) c.867G>A (p.Leu289=) c.345G>A (p.Leu115=) c.909G>A (p.Leu303=) c.78G>A (p.Leu26=) | |
| 12 | g.51915319G>C | CA480063180 | ACVRL1 | c.597G>C (p.Leu199=) c.867G>C (p.Leu289=) c.345G>C (p.Leu115=) c.909G>C (p.Leu303=) c.78G>C (p.Leu26=) | gnomAD v4 |
| 12 | g.51915319G>T | CA480063181 | ACVRL1 | c.597G>T (p.Leu199=) c.867G>T (p.Leu289=) c.345G>T (p.Leu115=) c.909G>T (p.Leu303=) c.78G>T (p.Leu26=) | |
| 12 | g.51915320C>A | CA384900614 | ACVRL1 | c.598C>A (p.Gln200Lys) c.868C>A (p.Gln290Lys) c.346C>A (p.Gln116Lys) c.910C>A (p.Gln304Lys) c.79C>A (p.Gln27Lys) | |
| 12 | g.51915320C>G | CA384900615 | ACVRL1 | c.598C>G (p.Gln200Glu) c.868C>G (p.Gln290Glu) c.346C>G (p.Gln116Glu) c.910C>G (p.Gln304Glu) c.79C>G (p.Gln27Glu) | |
| 12 | g.51915320C>T | CA384900611 | ACVRL1 | c.598C>T (p.Gln200Ter) c.868C>T (p.Gln290Ter) c.346C>T (p.Gln116Ter) c.910C>T (p.Gln304Ter) c.79C>T (p.Gln27Ter) | ClinVar dbSNP |
| 12 | g.51915320_51915322delinsCAG | CA2036269458 | ACVRL1 | c.598_600delinsCAG (p.Gln200=) c.868_870delinsCAG (p.Gln290=) c.346_348delinsCAG (p.Gln116=) c.910_912delinsCAG (p.Gln304=) c.79_81delinsCAG (p.Gln27=) | |
| 12 | g.51915321A>C | CA384900617 | ACVRL1 | c.599A>C (p.Gln200Pro) c.869A>C (p.Gln290Pro) c.347A>C (p.Gln116Pro) c.911A>C (p.Gln304Pro) c.80A>C (p.Gln27Pro) | |
| 12 | g.51915321A>G | CA384900618 | ACVRL1 | c.599A>G (p.Gln200Arg) c.869A>G (p.Gln290Arg) c.347A>G (p.Gln116Arg) c.911A>G (p.Gln304Arg) c.80A>G (p.Gln27Arg) | |
| 12 | g.51915321A>T | CA384900619 | ACVRL1 | c.599A>T (p.Gln200Leu) c.869A>T (p.Gln290Leu) c.347A>T (p.Gln116Leu) c.911A>T (p.Gln304Leu) c.80A>T (p.Gln27Leu) | |
| 12 | g.51915321_51915322delinsAG | CA2036269459 | ACVRL1 | c.599_600delinsAG (p.Gln200=) c.869_870delinsAG (p.Gln290=) c.347_348delinsAG (p.Gln116=) c.911_912delinsAG (p.Gln304=) c.80_81delinsAG (p.Gln27=) | |
| 12 | g.51915324_51915325del | CA915948523 | ACVRL1 | c.602_603del (p.Arg201ThrfsTer?) c.872_873del (p.Arg291ThrfsTer?) c.350_351del (p.Arg117ThrfsTer?) c.914_915del (p.Arg305ThrfsTer?) c.83_84del (p.Arg28ThrfsTer?) | ClinVar dbSNP |
| 12 | g.51915322del | CA913190986 | ACVRL1 | c.600del (p.Arg201AspfsTer10) c.870del (p.Arg291AspfsTer10) c.348del (p.Arg117AspfsTer10) c.912del (p.Arg305AspfsTer10) c.81del (p.Arg28AspfsTer10) | ClinVar dbSNP |
| 12 | g.51915322G>A | CA480063182 | ACVRL1 | c.600G>A (p.Gln200=) c.870G>A (p.Gln290=) c.348G>A (p.Gln116=) c.912G>A (p.Gln304=) c.81G>A (p.Gln27=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915322G>C | CA384900620 | ACVRL1 | c.600G>C (p.Gln200His) c.870G>C (p.Gln290His) c.348G>C (p.Gln116His) c.912G>C (p.Gln304His) c.81G>C (p.Gln27His) | |
| 12 | g.51915322G= | CA2036269460 | ACVRL1 | c.600G= (p.Gln200=) c.870G= (p.Gln290=) c.348G= (p.Gln116=) c.912G= (p.Gln304=) c.81G= (p.Gln27=) | |
| 12 | g.51915322G>T | CA384900621 | ACVRL1 | c.600G>T (p.Gln200His) c.870G>T (p.Gln290His) c.348G>T (p.Gln116His) c.912G>T (p.Gln304His) c.81G>T (p.Gln27His) | |
| 12 | g.51915323A= | CA2036269461 | ACVRL1 | c.601A= (p.Arg201=) c.871A= (p.Arg291=) c.349A= (p.Arg117=) c.913A= (p.Arg305=) c.82A= (p.Arg28=) | |
| 12 | g.51915323A>C | CA480063183 | ACVRL1 | c.601A>C (p.Arg201=) c.871A>C (p.Arg291=) c.349A>C (p.Arg117=) c.913A>C (p.Arg305=) c.82A>C (p.Arg28=) | |
| 12 | g.51915323A>G | CA236364040 | ACVRL1 | c.601A>G (p.Arg201Gly) c.871A>G (p.Arg291Gly) c.349A>G (p.Arg117Gly) c.913A>G (p.Arg305Gly) c.82A>G (p.Arg28Gly) | dbSNP |
| 12 | g.51915323A>T | CA384900623 | ACVRL1 | c.601A>T (p.Arg201Ter) c.871A>T (p.Arg291Ter) c.349A>T (p.Arg117Ter) c.913A>T (p.Arg305Ter) c.82A>T (p.Arg28Ter) | ClinVar dbSNP |
| 12 | g.51915324G>A | CA384900625 | ACVRL1 | c.602G>A (p.Arg201Lys) c.872G>A (p.Arg291Lys) c.350G>A (p.Arg117Lys) c.914G>A (p.Arg305Lys) c.83G>A (p.Arg28Lys) | |
| 12 | g.51915324G>C | CA384900630 | ACVRL1 | c.602G>C (p.Arg201Thr) c.872G>C (p.Arg291Thr) c.350G>C (p.Arg117Thr) c.914G>C (p.Arg305Thr) c.83G>C (p.Arg28Thr) | gnomAD v4 |
| 12 | g.51915324G>T | CA384900633 | ACVRL1 | c.602G>T (p.Arg201Ile) c.872G>T (p.Arg291Ile) c.350G>T (p.Arg117Ile) c.914G>T (p.Arg305Ile) c.83G>T (p.Arg28Ile) | |
| 12 | g.51915325A= | CA2036269462 | ACVRL1 | c.603A= (p.Arg201=) c.873A= (p.Arg291=) c.351A= (p.Arg117=) c.915A= (p.Arg305=) c.84A= (p.Arg28=) | |
| 12 | g.51915325A>C | CA384900634 | ACVRL1 | c.603A>C (p.Arg201Ser) c.873A>C (p.Arg291Ser) c.351A>C (p.Arg117Ser) c.915A>C (p.Arg305Ser) c.84A>C (p.Arg28Ser) | |
| 12 | g.51915325A>G | CA480063184 | ACVRL1 | c.603A>G (p.Arg201=) c.873A>G (p.Arg291=) c.351A>G (p.Arg117=) c.915A>G (p.Arg305=) c.84A>G (p.Arg28=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915325A>T | CA384900635 | ACVRL1 | c.603A>T (p.Arg201Ser) c.873A>T (p.Arg291Ser) c.351A>T (p.Arg117Ser) c.915A>T (p.Arg305Ser) c.84A>T (p.Arg28Ser) | |
| 12 | g.51915326del | CA2695216744 | ACVRL1 | c.604del (p.Gln202ArgfsTer9) c.874del (p.Gln292ArgfsTer9) c.352del (p.Gln118ArgfsTer9) c.916del (p.Gln306ArgfsTer9) c.85del (p.Gln29ArgfsTer9) | |
| 12 | g.51915326C>A | CA384900639 | ACVRL1 | c.604C>A (p.Gln202Lys) c.874C>A (p.Gln292Lys) c.352C>A (p.Gln118Lys) c.916C>A (p.Gln306Lys) c.85C>A (p.Gln29Lys) | |
| 12 | g.51915326C= | CA2036269463 | ACVRL1 | c.604C= (p.Gln202=) c.874C= (p.Gln292=) c.352C= (p.Gln118=) c.916C= (p.Gln306=) c.85C= (p.Gln29=) | |
| 12 | g.51915326C>G | CA384900637 | ACVRL1 | c.604C>G (p.Gln202Glu) c.874C>G (p.Gln292Glu) c.352C>G (p.Gln118Glu) c.916C>G (p.Gln306Glu) c.85C>G (p.Gln29Glu) | |
| 12 | g.51915326C>T | CA384900636 | ACVRL1 | c.604C>T (p.Gln202Ter) c.874C>T (p.Gln292Ter) c.352C>T (p.Gln118Ter) c.916C>T (p.Gln306Ter) c.85C>T (p.Gln29Ter) | ClinVar dbSNP |
| 12 | g.51915327A>C | CA384900640 | ACVRL1 | c.605A>C (p.Gln202Pro) c.875A>C (p.Gln292Pro) c.353A>C (p.Gln118Pro) c.917A>C (p.Gln306Pro) c.86A>C (p.Gln29Pro) | |
| 12 | g.51915327A>G | CA384900643 | ACVRL1 | c.605A>G (p.Gln202Arg) c.875A>G (p.Gln292Arg) c.353A>G (p.Gln118Arg) c.917A>G (p.Gln306Arg) c.86A>G (p.Gln29Arg) | |
| 12 | g.51915327A>T | CA384900645 | ACVRL1 | c.605A>T (p.Gln202Leu) c.875A>T (p.Gln292Leu) c.353A>T (p.Gln118Leu) c.917A>T (p.Gln306Leu) c.86A>T (p.Gln29Leu) | |
| 12 | g.51915328G>A | CA480063185 | ACVRL1 | c.606G>A (p.Gln202=) c.876G>A (p.Gln292=) c.354G>A (p.Gln118=) c.918G>A (p.Gln306=) c.87G>A (p.Gln29=) | gnomAD v4 |
| 12 | g.51915328G>C | CA384900664 | ACVRL1 | c.606G>C (p.Gln202His) c.876G>C (p.Gln292His) c.354G>C (p.Gln118His) c.918G>C (p.Gln306His) c.87G>C (p.Gln29His) | |
| 12 | g.51915328G>T | CA384900665 | ACVRL1 | c.606G>T (p.Gln202His) c.876G>T (p.Gln292His) c.354G>T (p.Gln118His) c.918G>T (p.Gln306His) c.87G>T (p.Gln29His) | |
| 12 | g.51915329del | CA2580086479 | ACVRL1 | c.607del (p.Thr203ArgfsTer8) c.877del (p.Thr293ArgfsTer8) c.355del (p.Thr119ArgfsTer8) c.919del (p.Thr307ArgfsTer8) c.88del (p.Thr30ArgfsTer8) | ClinVar |
| 12 | g.51915329A= | CA2036269464 | ACVRL1 | c.607A= (p.Thr203=) c.877A= (p.Thr293=) c.355A= (p.Thr119=) c.919A= (p.Thr307=) c.88A= (p.Thr30=) | |
| 12 | g.51915329A>C | CA384900666 | ACVRL1 | c.607A>C (p.Thr203Pro) c.877A>C (p.Thr293Pro) c.355A>C (p.Thr119Pro) c.919A>C (p.Thr307Pro) c.88A>C (p.Thr30Pro) | |
| 12 | g.51915329A>G | CA384900667 | ACVRL1 | c.607A>G (p.Thr203Ala) c.877A>G (p.Thr293Ala) c.355A>G (p.Thr119Ala) c.919A>G (p.Thr307Ala) c.88A>G (p.Thr30Ala) | dbSNP |
| 12 | g.51915329A>T | CA384900668 | ACVRL1 | c.607A>T (p.Thr203Ser) c.877A>T (p.Thr293Ser) c.355A>T (p.Thr119Ser) c.919A>T (p.Thr307Ser) c.88A>T (p.Thr30Ser) | |
| 12 | g.51915330C>A | CA384900673 | ACVRL1 | c.608C>A (p.Thr203Lys) c.878C>A (p.Thr293Lys) c.356C>A (p.Thr119Lys) c.920C>A (p.Thr307Lys) c.89C>A (p.Thr30Lys) | |
| 12 | g.51915330C>G | CA384900674 | ACVRL1 | c.608C>G (p.Thr203Arg) c.878C>G (p.Thr293Arg) c.356C>G (p.Thr119Arg) c.920C>G (p.Thr307Arg) c.89C>G (p.Thr30Arg) | |
| 12 | g.51915330C>T | CA384900676 | ACVRL1 | c.608C>T (p.Thr203Met) c.878C>T (p.Thr293Met) c.356C>T (p.Thr119Met) c.920C>T (p.Thr307Met) c.89C>T (p.Thr30Met) | |
| 12 | g.51915331G>A | CA6573010 | ACVRL1 | c.609G>A (p.Thr203=) c.879G>A (p.Thr293=) c.357G>A (p.Thr119=) c.921G>A (p.Thr307=) c.90G>A (p.Thr30=) | dbSNP ExAC gnomAD v2 |
| 12 | g.51915331G>C | CA480063186 | ACVRL1 | c.609G>C (p.Thr203=) c.879G>C (p.Thr293=) c.357G>C (p.Thr119=) c.921G>C (p.Thr307=) c.90G>C (p.Thr30=) | |
| 12 | g.51915331G= | CA2036269465 | ACVRL1 | c.609G= (p.Thr203=) c.879G= (p.Thr293=) c.357G= (p.Thr119=) c.921G= (p.Thr307=) c.90G= (p.Thr30=) | |
| 12 | g.51915331G>T | CA480063187 | ACVRL1 | c.609G>T (p.Thr203=) c.879G>T (p.Thr293=) c.357G>T (p.Thr119=) c.921G>T (p.Thr307=) c.90G>T (p.Thr30=) | |
| 12 | g.51915332del | CA2580086480 | ACVRL1 | c.610del (p.Leu204TrpfsTer7) c.880del (p.Leu294TrpfsTer7) c.358del (p.Leu120TrpfsTer7) c.922del (p.Leu308TrpfsTer7) c.91del (p.Leu31TrpfsTer7) | ClinVar |
| 12 | g.51915332C>A | CA384900684 | ACVRL1 | c.610C>A (p.Leu204Met) c.880C>A (p.Leu294Met) c.358C>A (p.Leu120Met) c.922C>A (p.Leu308Met) c.91C>A (p.Leu31Met) | |
| 12 | g.51915332C= | CA2036269466 | ACVRL1 | c.610C= (p.Leu204=) c.880C= (p.Leu294=) c.358C= (p.Leu120=) c.922C= (p.Leu308=) c.91C= (p.Leu31=) | |
| 12 | g.51915332C>G | CA6573011 | ACVRL1 | c.610C>G (p.Leu204Val) c.880C>G (p.Leu294Val) c.358C>G (p.Leu120Val) c.922C>G (p.Leu308Val) c.91C>G (p.Leu31Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915332C>T | CA480063188 | ACVRL1 | c.610C>T (p.Leu204=) c.880C>T (p.Leu294=) c.358C>T (p.Leu120=) c.922C>T (p.Leu308=) c.91C>T (p.Leu31=) | |
| 12 | g.51915333T>A | CA384900696 | ACVRL1 | c.611T>A (p.Leu204Gln) c.881T>A (p.Leu294Gln) c.359T>A (p.Leu120Gln) c.923T>A (p.Leu308Gln) c.92T>A (p.Leu31Gln) | |
| 12 | g.51915333T>C | CA384900698 | ACVRL1 | c.611T>C (p.Leu204Pro) c.881T>C (p.Leu294Pro) c.359T>C (p.Leu120Pro) c.923T>C (p.Leu308Pro) c.92T>C (p.Leu31Pro) | gnomAD v4 |
| 12 | g.51915333T>G | CA384900694 | ACVRL1 | c.611T>G (p.Leu204Arg) c.881T>G (p.Leu294Arg) c.359T>G (p.Leu120Arg) c.923T>G (p.Leu308Arg) c.92T>G (p.Leu31Arg) | ClinVar dbSNP |
| 12 | g.51915334G>A | CA480063189 | ACVRL1 | c.612G>A (p.Leu204=) c.882G>A (p.Leu294=) c.360G>A (p.Leu120=) c.924G>A (p.Leu308=) c.93G>A (p.Leu31=) | |
| 12 | g.51915334G>C | CA480063190 | ACVRL1 | c.612G>C (p.Leu204=) c.882G>C (p.Leu294=) c.360G>C (p.Leu120=) c.924G>C (p.Leu308=) c.93G>C (p.Leu31=) | |
| 12 | g.51915334G>T | CA480063191 | ACVRL1 | c.612G>T (p.Leu204=) c.882G>T (p.Leu294=) c.360G>T (p.Leu120=) c.924G>T (p.Leu308=) c.93G>T (p.Leu31=) | |
| 12 | g.51915335G>A | CA384900703 | ACVRL1 | c.613G>A (p.Glu205Lys) c.883G>A (p.Glu295Lys) c.361G>A (p.Glu121Lys) c.925G>A (p.Glu309Lys) c.94G>A (p.Glu32Lys) | COSMIC COSMIC |
| 12 | g.51915335G>C | CA384900704 | ACVRL1 | c.613G>C (p.Glu205Gln) c.883G>C (p.Glu295Gln) c.361G>C (p.Glu121Gln) c.925G>C (p.Glu309Gln) c.94G>C (p.Glu32Gln) | |
| 12 | g.51915335G>T | CA384900707 | ACVRL1 | c.613G>T (p.Glu205Ter) c.883G>T (p.Glu295Ter) c.361G>T (p.Glu121Ter) c.925G>T (p.Glu309Ter) c.94G>T (p.Glu32Ter) | |
| 12 | g.51915336A>C | CA384900709 | ACVRL1 | c.614A>C (p.Glu205Ala) c.884A>C (p.Glu295Ala) c.362A>C (p.Glu121Ala) c.926A>C (p.Glu309Ala) c.95A>C (p.Glu32Ala) | gnomAD v4 |
| 12 | g.51915336A>G | CA384900711 | ACVRL1 | c.614A>G (p.Glu205Gly) c.884A>G (p.Glu295Gly) c.362A>G (p.Glu121Gly) c.926A>G (p.Glu309Gly) c.95A>G (p.Glu32Gly) | |
| 12 | g.51915336A>T | CA384900713 | ACVRL1 | c.614A>T (p.Glu205Val) c.884A>T (p.Glu295Val) c.362A>T (p.Glu121Val) c.926A>T (p.Glu309Val) c.95A>T (p.Glu32Val) | |
| 12 | g.51915337G>A | CA480063192 | ACVRL1 | c.615G>A (p.Glu205=) c.885G>A (p.Glu295=) c.363G>A (p.Glu121=) c.927G>A (p.Glu309=) c.96G>A (p.Glu32=) | gnomAD v4 |
| 12 | g.51915337G>C | CA384900715 | ACVRL1 | c.615G>C (p.Glu205Asp) c.885G>C (p.Glu295Asp) c.363G>C (p.Glu121Asp) c.927G>C (p.Glu309Asp) c.96G>C (p.Glu32Asp) | |
| 12 | g.51915337G>T | CA384900718 | ACVRL1 | c.615G>T (p.Glu205Asp) c.885G>T (p.Glu295Asp) c.363G>T (p.Glu121Asp) c.927G>T (p.Glu309Asp) c.96G>T (p.Glu32Asp) | |
| 12 | g.51915337_51915338delinsGC | CA2036269467 | ACVRL1 | c.615_616delinsGC (p.Glu205=) c.885_886delinsGC (p.Glu295=) c.363_364delinsGC (p.Glu121=) c.927_928delinsGC (p.Glu309=) c.96_97delinsGC (p.Glu32=) | |
| 12 | g.51915338C>A | CA384900720 | ACVRL1 | c.616C>A (p.Pro206Thr) c.886C>A (p.Pro296Thr) c.364C>A (p.Pro122Thr) c.928C>A (p.Pro310Thr) c.97C>A (p.Pro33Thr) | |
| 12 | g.51915338C= | CA2036269468 | ACVRL1 | c.616C= (p.Pro206=) c.886C= (p.Pro296=) c.364C= (p.Pro122=) c.928C= (p.Pro310=) c.97C= (p.Pro33=) | |
| 12 | g.51915338C>G | CA384900744 | ACVRL1 | c.616C>G (p.Pro206Ala) c.886C>G (p.Pro296Ala) c.364C>G (p.Pro122Ala) c.928C>G (p.Pro310Ala) c.97C>G (p.Pro33Ala) | |
| 12 | g.51915338C>T | CA384900747 | ACVRL1 | c.616C>T (p.Pro206Ser) c.886C>T (p.Pro296Ser) c.364C>T (p.Pro122Ser) c.928C>T (p.Pro310Ser) c.97C>T (p.Pro33Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915341del | CA16614159 | ACVRL1 | c.619del (p.His207IlefsTer4) c.889del (p.His297IlefsTer4) c.367del (p.His123IlefsTer4) c.931del (p.His311IlefsTer4) c.100del (p.His34IlefsTer4) | ClinVar dbSNP |
| 12 | g.51915339C>A | CA384900756 | ACVRL1 | c.617C>A (p.Pro206His) c.887C>A (p.Pro296His) c.365C>A (p.Pro122His) c.929C>A (p.Pro310His) c.98C>A (p.Pro33His) | |
| 12 | g.51915339C= | CA2036269469 | ACVRL1 | c.617C= (p.Pro206=) c.887C= (p.Pro296=) c.365C= (p.Pro122=) c.929C= (p.Pro310=) c.98C= (p.Pro33=) | |
| 12 | g.51915339C>G | CA384900769 | ACVRL1 | c.617C>G (p.Pro206Arg) c.887C>G (p.Pro296Arg) c.365C>G (p.Pro122Arg) c.929C>G (p.Pro310Arg) c.98C>G (p.Pro33Arg) | |
| 12 | g.51915339C>T | CA384900772 | ACVRL1 | c.617C>T (p.Pro206Leu) c.887C>T (p.Pro296Leu) c.365C>T (p.Pro122Leu) c.929C>T (p.Pro310Leu) c.98C>T (p.Pro33Leu) | dbSNP |
| 12 | g.51915340C>A | CA480063193 | ACVRL1 | c.618C>A (p.Pro206=) c.888C>A (p.Pro296=) c.366C>A (p.Pro122=) c.930C>A (p.Pro310=) c.99C>A (p.Pro33=) | |
| 12 | g.51915340C= | CA2036269470 | ACVRL1 | c.618C= (p.Pro206=) c.888C= (p.Pro296=) c.366C= (p.Pro122=) c.930C= (p.Pro310=) c.99C= (p.Pro33=) | |
| 12 | g.51915340C>G | CA6573012 | ACVRL1 | c.618C>G (p.Pro206=) c.888C>G (p.Pro296=) c.366C>G (p.Pro122=) c.930C>G (p.Pro310=) c.99C>G (p.Pro33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915340C>T | CA480063194 | ACVRL1 | c.618C>T (p.Pro206=) c.888C>T (p.Pro296=) c.366C>T (p.Pro122=) c.930C>T (p.Pro310=) c.99C>T (p.Pro33=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915341C>A | CA384900782 | ACVRL1 | c.619C>A (p.His207Asn) c.889C>A (p.His297Asn) c.367C>A (p.His123Asn) c.931C>A (p.His311Asn) c.100C>A (p.His34Asn) | |
| 12 | g.51915341C= | CA2036269471 | ACVRL1 | c.619C= (p.His207=) c.889C= (p.His297=) c.367C= (p.His123=) c.931C= (p.His311=) c.100C= (p.His34=) | |
| 12 | g.51915341C>G | CA384900785 | ACVRL1 | c.619C>G (p.His207Asp) c.889C>G (p.His297Asp) c.367C>G (p.His123Asp) c.931C>G (p.His311Asp) c.100C>G (p.His34Asp) | |
| 12 | g.51915341C>T | CA236364074 | ACVRL1 | c.619C>T (p.His207Tyr) c.889C>T (p.His297Tyr) c.367C>T (p.His123Tyr) c.931C>T (p.His311Tyr) c.100C>T (p.His34Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915342A= | CA2036269472 | ACVRL1 | c.620A= (p.His207=) c.890A= (p.His297=) c.368A= (p.His123=) c.932A= (p.His311=) c.101A= (p.His34=) | |
| 12 | g.51915342A>C | CA384900792 | ACVRL1 | c.620A>C (p.His207Pro) c.890A>C (p.His297Pro) c.368A>C (p.His123Pro) c.932A>C (p.His311Pro) c.101A>C (p.His34Pro) | |
| 12 | g.51915342A>G | CA211332 | ACVRL1 | c.620A>G (p.His207Arg) c.890A>G (p.His297Arg) c.368A>G (p.His123Arg) c.932A>G (p.His311Arg) c.101A>G (p.His34Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915342A>T | CA384900798 | ACVRL1 | c.620A>T (p.His207Leu) c.890A>T (p.His297Leu) c.368A>T (p.His123Leu) c.932A>T (p.His311Leu) c.101A>T (p.His34Leu) | |
| 12 | g.51915343T>A | CA384900799 | ACVRL1 | c.621T>A (p.His207Gln) c.891T>A (p.His297Gln) c.369T>A (p.His123Gln) c.933T>A (p.His311Gln) c.102T>A (p.His34Gln) | gnomAD v4 |
| 12 | g.51915343T>C | CA480063195 | ACVRL1 | c.621T>C (p.His207=) c.891T>C (p.His297=) c.369T>C (p.His123=) c.933T>C (p.His311=) c.102T>C (p.His34=) | |
| 12 | g.51915343T>G | CA384900800 | ACVRL1 | c.621T>G (p.His207Gln) c.891T>G (p.His297Gln) c.369T>G (p.His123Gln) c.933T>G (p.His311Gln) c.102T>G (p.His34Gln) | |
| 12 | g.51915344C>A | CA384900801 | ACVRL1 | c.622C>A (p.Leu208Met) c.892C>A (p.Leu298Met) c.370C>A (p.Leu124Met) c.934C>A (p.Leu312Met) c.103C>A (p.Leu35Met) | |
| 12 | g.51915344C>G | CA384900802 | ACVRL1 | c.622C>G (p.Leu208Val) c.892C>G (p.Leu298Val) c.370C>G (p.Leu124Val) c.934C>G (p.Leu312Val) c.103C>G (p.Leu35Val) | |
| 12 | g.51915344C>T | CA480063196 | ACVRL1 | c.622C>T (p.Leu208=) c.892C>T (p.Leu298=) c.370C>T (p.Leu124=) c.934C>T (p.Leu312=) c.103C>T (p.Leu35=) | |
| 12 | g.51915345T>A | CA384900809 | ACVRL1 | c.623T>A (p.Leu208Gln) c.893T>A (p.Leu298Gln) c.371T>A (p.Leu124Gln) c.935T>A (p.Leu312Gln) c.104T>A (p.Leu35Gln) | |
| 12 | g.51915345T>C | CA384900810 | ACVRL1 | c.623T>C (p.Leu208Pro) c.893T>C (p.Leu298Pro) c.371T>C (p.Leu124Pro) c.935T>C (p.Leu312Pro) c.104T>C (p.Leu35Pro) | |
| 12 | g.51915345T>G | CA384900811 | ACVRL1 | c.623T>G (p.Leu208Arg) c.893T>G (p.Leu298Arg) c.371T>G (p.Leu124Arg) c.935T>G (p.Leu312Arg) c.104T>G (p.Leu35Arg) | |
| 12 | g.51915346G>A | CA6573013 | ACVRL1 | c.624G>A (p.Leu208=) c.894G>A (p.Leu298=) c.372G>A (p.Leu124=) c.936G>A (p.Leu312=) c.105G>A (p.Leu35=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915346G>C | CA480063197 | ACVRL1 | c.624G>C (p.Leu208=) c.894G>C (p.Leu298=) c.372G>C (p.Leu124=) c.936G>C (p.Leu312=) c.105G>C (p.Leu35=) | |
| 12 | g.51915346G= | CA2036269473 | ACVRL1 | c.624G= (p.Leu208=) c.894G= (p.Leu298=) c.372G= (p.Leu124=) c.936G= (p.Leu312=) c.105G= (p.Leu35=) | |
| 12 | g.51915346G>T | CA480063198 | ACVRL1 | c.624G>T (p.Leu208=) c.894G>T (p.Leu298=) c.372G>T (p.Leu124=) c.936G>T (p.Leu312=) c.105G>T (p.Leu35=) | |
| 12 | g.51915347G>A | CA384900819 | ACVRL1 | c.625G>A (p.Ala209Thr) c.895G>A (p.Ala299Thr) c.373G>A (p.Ala125Thr) c.937G>A (p.Ala313Thr) c.106G>A (p.Ala36Thr) | dbSNP gnomAD v4 |
| 12 | g.51915347G>C | CA384900817 | ACVRL1 | c.625G>C (p.Ala209Pro) c.895G>C (p.Ala299Pro) c.373G>C (p.Ala125Pro) c.937G>C (p.Ala313Pro) c.106G>C (p.Ala36Pro) | |
| 12 | g.51915347G= | CA2036269474 | ACVRL1 | c.625G= (p.Ala209=) c.895G= (p.Ala299=) c.373G= (p.Ala125=) c.937G= (p.Ala313=) c.106G= (p.Ala36=) | |
| 12 | g.51915347G>T | CA384900822 | ACVRL1 | c.625G>T (p.Ala209Ser) c.895G>T (p.Ala299Ser) c.373G>T (p.Ala125Ser) c.937G>T (p.Ala313Ser) c.106G>T (p.Ala36Ser) | |
| 12 | g.51915348C>A | CA384900827 | ACVRL1 | c.626C>A (p.Ala209Asp) c.896C>A (p.Ala299Asp) c.374C>A (p.Ala125Asp) c.938C>A (p.Ala313Asp) c.107C>A (p.Ala36Asp) | |
| 12 | g.51915348C>G | CA384900847 | ACVRL1 | c.626C>G (p.Ala209Gly) c.896C>G (p.Ala299Gly) c.374C>G (p.Ala125Gly) c.938C>G (p.Ala313Gly) c.107C>G (p.Ala36Gly) | |
| 12 | g.51915348C>T | CA384900832 | ACVRL1 | c.626C>T (p.Ala209Val) c.896C>T (p.Ala299Val) c.374C>T (p.Ala125Val) c.938C>T (p.Ala313Val) c.107C>T (p.Ala36Val) | |
| 12 | g.51915349T>A | CA480063200 | ACVRL1 | c.627T>A (p.Ala209=) c.897T>A (p.Ala299=) c.375T>A (p.Ala125=) c.939T>A (p.Ala313=) c.108T>A (p.Ala36=) | |
| 12 | g.51915349T>C | CA6573014 | ACVRL1 | c.627T>C (p.Ala209=) c.897T>C (p.Ala299=) c.375T>C (p.Ala125=) c.939T>C (p.Ala313=) c.108T>C (p.Ala36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915349T>G | CA480063199 | ACVRL1 | c.627T>G (p.Ala209=) c.897T>G (p.Ala299=) c.375T>G (p.Ala125=) c.939T>G (p.Ala313=) c.108T>G (p.Ala36=) | |
| 12 | g.51915349T= | CA2036269475 | ACVRL1 | c.627T= (p.Ala209=) c.897T= (p.Ala299=) c.375T= (p.Ala125=) c.939T= (p.Ala313=) c.108T= (p.Ala36=) | |
| 12 | g.51915350C>A | CA384900853 | ACVRL1 | c.628C>A (p.Leu210Met) c.898C>A (p.Leu300Met) c.376C>A (p.Leu126Met) c.940C>A (p.Leu314Met) c.109C>A (p.Leu37Met) | |
| 12 | g.51915350C>G | CA384900856 | ACVRL1 | c.628C>G (p.Leu210Val) c.898C>G (p.Leu300Val) c.376C>G (p.Leu126Val) c.940C>G (p.Leu314Val) c.109C>G (p.Leu37Val) | |
| 12 | g.51915350C>T | CA480063201 | ACVRL1 | c.628C>T (p.Leu210=) c.898C>T (p.Leu300=) c.376C>T (p.Leu126=) c.940C>T (p.Leu314=) c.109C>T (p.Leu37=) | |
| 12 | g.51915351T>A | CA384900858 | ACVRL1 | c.629T>A (p.Leu210Gln) c.899T>A (p.Leu300Gln) c.377T>A (p.Leu126Gln) c.941T>A (p.Leu314Gln) c.110T>A (p.Leu37Gln) | |
| 12 | g.51915351T>C | CA384900859 | ACVRL1 | c.629T>C (p.Leu210Pro) c.899T>C (p.Leu300Pro) c.377T>C (p.Leu126Pro) c.941T>C (p.Leu314Pro) c.110T>C (p.Leu37Pro) | |
| 12 | g.51915351T>G | CA384900860 | ACVRL1 | c.629T>G (p.Leu210Arg) c.899T>G (p.Leu300Arg) c.377T>G (p.Leu126Arg) c.941T>G (p.Leu314Arg) c.110T>G (p.Leu37Arg) | |
| 12 | g.51915352del | CA2580086482 | ACVRL1 | c.630del (p.Arg211GlyfsTer2) c.900del (p.Arg301GlyfsTer2) c.378del (p.Arg127GlyfsTer2) c.942del (p.Arg315GlyfsTer2) c.111del (p.Arg38GlyfsTer2) | ClinVar |
| 12 | g.51915352G>A | CA480063204 | ACVRL1 | c.630G>A (p.Leu210=) c.900G>A (p.Leu300=) c.378G>A (p.Leu126=) c.942G>A (p.Leu314=) c.111G>A (p.Leu37=) | ClinVar |
| 12 | g.51915352G>C | CA480063203 | ACVRL1 | c.630G>C (p.Leu210=) c.900G>C (p.Leu300=) c.378G>C (p.Leu126=) c.942G>C (p.Leu314=) c.111G>C (p.Leu37=) | |
| 12 | g.51915352G= | CA2036269476 | ACVRL1 | c.630G= (p.Leu210=) c.900G= (p.Leu300=) c.378G= (p.Leu126=) c.942G= (p.Leu314=) c.111G= (p.Leu37=) | |
| 12 | g.51915352G>T | CA480063202 | ACVRL1 | c.630G>T (p.Leu210=) c.900G>T (p.Leu300=) c.378G>T (p.Leu126=) c.942G>T (p.Leu314=) c.111G>T (p.Leu37=) | dbSNP gnomAD v2 |
| 12 | g.51915353A>C | CA480063205 | ACVRL1 | c.631A>C (p.Arg211=) c.901A>C (p.Arg301=) c.379A>C (p.Arg127=) c.943A>C (p.Arg315=) c.112A>C (p.Arg38=) | |
| 12 | g.51915353A>G | CA384900865 | ACVRL1 | c.631A>G (p.Arg211Gly) c.901A>G (p.Arg301Gly) c.379A>G (p.Arg127Gly) c.943A>G (p.Arg315Gly) c.112A>G (p.Arg38Gly) | |
| 12 | g.51915353A>T | CA384900871 | ACVRL1 | c.631A>T (p.Arg211Trp) c.901A>T (p.Arg301Trp) c.379A>T (p.Arg127Trp) c.943A>T (p.Arg315Trp) c.112A>T (p.Arg38Trp) | |
| 12 | g.51915354G>A | CA6573015 | ACVRL1 | c.632G>A (p.Arg211Lys) c.902G>A (p.Arg301Lys) c.380G>A (p.Arg127Lys) c.944G>A (p.Arg315Lys) c.113G>A (p.Arg38Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915354G>C | CA384900878 | ACVRL1 | c.632G>C (p.Arg211Thr) c.902G>C (p.Arg301Thr) c.380G>C (p.Arg127Thr) c.944G>C (p.Arg315Thr) c.113G>C (p.Arg38Thr) | |
| 12 | g.51915354G= | CA2036269477 | ACVRL1 | c.632G= (p.Arg211=) c.902G= (p.Arg301=) c.380G= (p.Arg127=) c.944G= (p.Arg315=) c.113G= (p.Arg38=) | |
| 12 | g.51915354G>T | CA384900889 | ACVRL1 | c.632G>T (p.Arg211Met) c.902G>T (p.Arg301Met) c.380G>T (p.Arg127Met) c.944G>T (p.Arg315Met) c.113G>T (p.Arg38Met) | |
| 12 | g.51915355G>A | CA480063206 | ACVRL1 | c.633G>A (p.Arg211=) c.903G>A (p.Arg301=) c.381G>A (p.Arg127=) c.945G>A (p.Arg315=) c.114G>A (p.Arg38=) | ClinVar |
| 12 | g.51915355G>C | CA384900891 | ACVRL1 | c.633G>C (p.Arg211Ser) c.903G>C (p.Arg301Ser) c.381G>C (p.Arg127Ser) c.945G>C (p.Arg315Ser) c.114G>C (p.Arg38Ser) | |
| 12 | g.51915355G= | CA2036269478 | ACVRL1 | c.633G= (p.Arg211=) c.903G= (p.Arg301=) c.381G= (p.Arg127=) c.945G= (p.Arg315=) c.114G= (p.Arg38=) | |
| 12 | g.51915355G>T | CA384900892 | ACVRL1 | c.633G>T (p.Arg211Ser) c.903G>T (p.Arg301Ser) c.381G>T (p.Arg127Ser) c.945G>T (p.Arg315Ser) c.114G>T (p.Arg38Ser) | gnomAD v4 |
| 12 | g.51915355_51915356insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT | CA605238839 | ACVRL1 | c.633_634insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg211_Leu212insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.381_382insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg127_Leu128insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.945_946insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg315_Leu316insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.114_115insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg38_Leu39insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) | dbSNP gnomAD v2 |
| 12 | g.51915356C>A | CA384900893 | ACVRL1 | c.634C>A (p.Leu212Ile) c.904C>A (p.Leu302Ile) c.382C>A (p.Leu128Ile) c.946C>A (p.Leu316Ile) c.115C>A (p.Leu39Ile) | |
| 12 | g.51915356C>G | CA384900896 | ACVRL1 | c.634C>G (p.Leu212Val) c.904C>G (p.Leu302Val) c.382C>G (p.Leu128Val) c.946C>G (p.Leu316Val) c.115C>G (p.Leu39Val) | |
| 12 | g.51915356C>T | CA480063207 | ACVRL1 | c.634C>T (p.Leu212=) c.904C>T (p.Leu302=) c.382C>T (p.Leu128=) c.946C>T (p.Leu316=) c.115C>T (p.Leu39=) | |
| 12 | g.51915357T>A | CA384900899 | ACVRL1 | c.635T>A (p.Leu212Gln) c.905T>A (p.Leu302Gln) c.383T>A (p.Leu128Gln) c.947T>A (p.Leu316Gln) c.116T>A (p.Leu39Gln) | |
| 12 | g.51915357T>C | CA384900900 | ACVRL1 | c.635T>C (p.Leu212Pro) c.905T>C (p.Leu302Pro) c.383T>C (p.Leu128Pro) c.947T>C (p.Leu316Pro) c.116T>C (p.Leu39Pro) | ClinVar dbSNP |
| 12 | g.51915357T>G | CA384900901 | ACVRL1 | c.635T>G (p.Leu212Arg) c.905T>G (p.Leu302Arg) c.383T>G (p.Leu128Arg) c.947T>G (p.Leu316Arg) c.116T>G (p.Leu39Arg) | ClinVar |
| 12 | g.51915357T= | CA2036269479 | ACVRL1 | c.635T= (p.Leu212=) c.905T= (p.Leu302=) c.383T= (p.Leu128=) c.947T= (p.Leu316=) c.116T= (p.Leu39=) | |
| 12 | g.51915358A>C | CA480063208 | ACVRL1 | c.636A>C (p.Leu212=) c.906A>C (p.Leu302=) c.384A>C (p.Leu128=) c.948A>C (p.Leu316=) c.117A>C (p.Leu39=) | |
| 12 | g.51915358A>G | CA480063209 | ACVRL1 | c.636A>G (p.Leu212=) c.906A>G (p.Leu302=) c.384A>G (p.Leu128=) c.948A>G (p.Leu316=) c.117A>G (p.Leu39=) | |
| 12 | g.51915358A>T | CA480063210 | ACVRL1 | c.636A>T (p.Leu212=) c.906A>T (p.Leu302=) c.384A>T (p.Leu128=) c.948A>T (p.Leu316=) c.117A>T (p.Leu39=) | |
| 12 | g.51915359G>A | CA384900902 | ACVRL1 | c.637G>A (p.Ala213Thr) c.907G>A (p.Ala303Thr) c.385G>A (p.Ala129Thr) c.949G>A (p.Ala317Thr) c.118G>A (p.Ala40Thr) | dbSNP |
| 12 | g.51915359G>C | CA384900906 | ACVRL1 | c.637G>C (p.Ala213Pro) c.907G>C (p.Ala303Pro) c.385G>C (p.Ala129Pro) c.949G>C (p.Ala317Pro) c.118G>C (p.Ala40Pro) | ClinVar dbSNP |
| 12 | g.51915359G= | CA2036269480 | ACVRL1 | c.637G= (p.Ala213=) c.907G= (p.Ala303=) c.385G= (p.Ala129=) c.949G= (p.Ala317=) c.118G= (p.Ala40=) | |
| 12 | g.51915359G>T | CA384900910 | ACVRL1 | c.637G>T (p.Ala213Ser) c.907G>T (p.Ala303Ser) c.385G>T (p.Ala129Ser) c.949G>T (p.Ala317Ser) c.118G>T (p.Ala40Ser) | |
| 12 | g.51915360C>A | CA384900913 | ACVRL1 | c.638C>A (p.Ala213Asp) c.908C>A (p.Ala303Asp) c.386C>A (p.Ala129Asp) c.950C>A (p.Ala317Asp) c.119C>A (p.Ala40Asp) | |
| 12 | g.51915360C= | CA2036269481 | ACVRL1 | c.638C= (p.Ala213=) c.908C= (p.Ala303=) c.386C= (p.Ala129=) c.950C= (p.Ala317=) c.119C= (p.Ala40=) | |
| 12 | g.51915360C>G | CA384900914 | ACVRL1 | c.638C>G (p.Ala213Gly) c.908C>G (p.Ala303Gly) c.386C>G (p.Ala129Gly) c.950C>G (p.Ala317Gly) c.119C>G (p.Ala40Gly) | |
| 12 | g.51915360C>T | CA384900915 | ACVRL1 | c.638C>T (p.Ala213Val) c.908C>T (p.Ala303Val) c.386C>T (p.Ala129Val) c.950C>T (p.Ala317Val) c.119C>T (p.Ala40Val) | dbSNP gnomAD v4 |
| 12 | g.51915361T>A | CA480063211 | ACVRL1 | c.639T>A (p.Ala213=) c.909T>A (p.Ala303=) c.387T>A (p.Ala129=) c.951T>A (p.Ala317=) c.120T>A (p.Ala40=) | |
| 12 | g.51915361T>C | CA6573016 | ACVRL1 | c.639T>C (p.Ala213=) c.909T>C (p.Ala303=) c.387T>C (p.Ala129=) c.951T>C (p.Ala317=) c.120T>C (p.Ala40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915361T>G | CA480063212 | ACVRL1 | c.639T>G (p.Ala213=) c.909T>G (p.Ala303=) c.387T>G (p.Ala129=) c.951T>G (p.Ala317=) c.120T>G (p.Ala40=) | |
| 12 | g.51915361T= | CA2036269482 | ACVRL1 | c.639T= (p.Ala213=) c.909T= (p.Ala303=) c.387T= (p.Ala129=) c.951T= (p.Ala317=) c.120T= (p.Ala40=) | |
| 12 | g.51915362G>A | CA236364083 | ACVRL1 | c.640G>A (p.Val214Met) c.910G>A (p.Val304Met) c.388G>A (p.Val130Met) c.952G>A (p.Val318Met) c.121G>A (p.Val41Met) | dbSNP gnomAD v4 |
| 12 | g.51915362G>C | CA384900918 | ACVRL1 | c.640G>C (p.Val214Leu) c.910G>C (p.Val304Leu) c.388G>C (p.Val130Leu) c.952G>C (p.Val318Leu) c.121G>C (p.Val41Leu) | |
| 12 | g.51915362G= | CA2036269483 | ACVRL1 | c.640G= (p.Val214=) c.910G= (p.Val304=) c.388G= (p.Val130=) c.952G= (p.Val318=) c.121G= (p.Val41=) | |
| 12 | g.51915362G>T | CA384900916 | ACVRL1 | c.640G>T (p.Val214Leu) c.910G>T (p.Val304Leu) c.388G>T (p.Val130Leu) c.952G>T (p.Val318Leu) c.121G>T (p.Val41Leu) | |
| 12 | g.51915363T>A | CA384900923 | ACVRL1 | c.641T>A (p.Val214Glu) c.911T>A (p.Val304Glu) c.389T>A (p.Val130Glu) c.953T>A (p.Val318Glu) c.122T>A (p.Val41Glu) | |
| 12 | g.51915363T>C | CA384900925 | ACVRL1 | c.641T>C (p.Val214Ala) c.911T>C (p.Val304Ala) c.389T>C (p.Val130Ala) c.953T>C (p.Val318Ala) c.122T>C (p.Val41Ala) | |
| 12 | g.51915363T>G | CA384900930 | ACVRL1 | c.641T>G (p.Val214Gly) c.911T>G (p.Val304Gly) c.389T>G (p.Val130Gly) c.953T>G (p.Val318Gly) c.122T>G (p.Val41Gly) | |
| 12 | g.51915364G>A | CA480063213 | ACVRL1 | c.642G>A (p.Val214=) c.912G>A (p.Val304=) c.390G>A (p.Val130=) c.954G>A (p.Val318=) c.123G>A (p.Val41=) | |
| 12 | g.51915364G>C | CA480063214 | ACVRL1 | c.642G>C (p.Val214=) c.912G>C (p.Val304=) c.390G>C (p.Val130=) c.954G>C (p.Val318=) c.123G>C (p.Val41=) | |
| 12 | g.51915364G>T | CA480063215 | ACVRL1 | c.642G>T (p.Val214=) c.912G>T (p.Val304=) c.390G>T (p.Val130=) c.954G>T (p.Val318=) c.123G>T (p.Val41=) | |
| 12 | g.51915365_51915368del | CA2739272049 | ACVRL1 | c.643_646del (p.Ser215ArgfsTer?) c.913_916del (p.Ser305ArgfsTer?) c.391_394del (p.Ser131ArgfsTer?) c.955_958del (p.Ser319ArgfsTer?) c.124_127del (p.Ser42ArgfsTer?) | ClinVar |
| 12 | g.51915365del | CA2695216745 | ACVRL1 | c.643del (p.Ser215ProfsTer?) c.913del (p.Ser305ProfsTer?) c.391del (p.Ser131ProfsTer?) c.955del (p.Ser319ProfsTer?) c.124del (p.Ser42ProfsTer?) | |
| 12 | g.51915365T>A | CA384900944 | ACVRL1 | c.643T>A (p.Ser215Thr) c.913T>A (p.Ser305Thr) c.391T>A (p.Ser131Thr) c.955T>A (p.Ser319Thr) c.124T>A (p.Ser42Thr) | |
| 12 | g.51915365T>C | CA384900945 | ACVRL1 | c.643T>C (p.Ser215Pro) c.913T>C (p.Ser305Pro) c.391T>C (p.Ser131Pro) c.955T>C (p.Ser319Pro) c.124T>C (p.Ser42Pro) | ClinVar dbSNP |
| 12 | g.51915365T>G | CA384900947 | ACVRL1 | c.643T>G (p.Ser215Ala) c.913T>G (p.Ser305Ala) c.391T>G (p.Ser131Ala) c.955T>G (p.Ser319Ala) c.124T>G (p.Ser42Ala) | |
| 12 | g.51915365T= | CA2036269484 | ACVRL1 | c.643T= (p.Ser215=) c.913T= (p.Ser305=) c.391T= (p.Ser131=) c.955T= (p.Ser319=) c.124T= (p.Ser42=) | |
| 12 | g.51915366C>A | CA384900949 | ACVRL1 | c.644C>A (p.Ser215Tyr) c.914C>A (p.Ser305Tyr) c.392C>A (p.Ser131Tyr) c.956C>A (p.Ser319Tyr) c.125C>A (p.Ser42Tyr) | |
| 12 | g.51915366C= | CA2036269485 | ACVRL1 | c.644C= (p.Ser215=) c.914C= (p.Ser305=) c.392C= (p.Ser131=) c.956C= (p.Ser319=) c.125C= (p.Ser42=) | |
| 12 | g.51915366C>G | CA384900952 | ACVRL1 | c.644C>G (p.Ser215Cys) c.914C>G (p.Ser305Cys) c.392C>G (p.Ser131Cys) c.956C>G (p.Ser319Cys) c.125C>G (p.Ser42Cys) | |
| 12 | g.51915366C>T | CA384900954 | ACVRL1 | c.644C>T (p.Ser215Phe) c.914C>T (p.Ser305Phe) c.392C>T (p.Ser131Phe) c.956C>T (p.Ser319Phe) c.125C>T (p.Ser42Phe) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51915367C>A | CA480063216 | ACVRL1 | c.645C>A (p.Ser215=) c.915C>A (p.Ser305=) c.393C>A (p.Ser131=) c.957C>A (p.Ser319=) c.126C>A (p.Ser42=) | |
| 12 | g.51915367C= | CA2036269487 | ACVRL1 | c.645C= (p.Ser215=) c.915C= (p.Ser305=) c.393C= (p.Ser131=) c.957C= (p.Ser319=) c.126C= (p.Ser42=) | |
| 12 | g.51915367C>G | CA480063217 | ACVRL1 | c.645C>G (p.Ser215=) c.915C>G (p.Ser305=) c.393C>G (p.Ser131=) c.957C>G (p.Ser319=) c.126C>G (p.Ser42=) | dbSNP gnomAD v4 |
| 12 | g.51915367C>T | CA480063218 | ACVRL1 | c.645C>T (p.Ser215=) c.915C>T (p.Ser305=) c.393C>T (p.Ser131=) c.957C>T (p.Ser319=) c.126C>T (p.Ser42=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.51915367_51915368delinsCG | CA2036269486 | ACVRL1 | c.645_646delinsCG (p.Ser215=) c.915_916delinsCG (p.Ser305=) c.393_394delinsCG (p.Ser131=) c.957_958delinsCG (p.Ser319=) c.126_127delinsCG (p.Ser42=) | |
| 12 | g.51915368del | CA16619569 | ACVRL1 | c.646del (p.Ala216ArgfsTer?) c.916del (p.Ala306ArgfsTer?) c.394del (p.Ala132ArgfsTer?) c.958del (p.Ala320ArgfsTer?) c.127del (p.Ala43ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915368G>A | CA384900956 | ACVRL1 | c.646G>A (p.Ala216Thr) c.916G>A (p.Ala306Thr) c.394G>A (p.Ala132Thr) c.958G>A (p.Ala320Thr) c.127G>A (p.Ala43Thr) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915368G>C | CA384900960 | ACVRL1 | c.646G>C (p.Ala216Pro) c.916G>C (p.Ala306Pro) c.394G>C (p.Ala132Pro) c.958G>C (p.Ala320Pro) c.127G>C (p.Ala43Pro) | ClinVar dbSNP |
| 12 | g.51915368G= | CA2036269489 | ACVRL1 | c.646G= (p.Ala216=) c.916G= (p.Ala306=) c.394G= (p.Ala132=) c.958G= (p.Ala320=) c.127G= (p.Ala43=) | |
| 12 | g.51915368G>T | CA384900963 | ACVRL1 | c.646G>T (p.Ala216Ser) c.916G>T (p.Ala306Ser) c.394G>T (p.Ala132Ser) c.958G>T (p.Ala320Ser) c.127G>T (p.Ala43Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915368_51915369delinsAA | CA16614160 | ACVRL1 | c.646_647delinsAA (p.Ala216Lys) c.916_917delinsAA (p.Ala306Lys) c.394_395delinsAA (p.Ala132Lys) c.958_959delinsAA (p.Ala320Lys) c.127_128delinsAA (p.Ala43Lys) | ClinVar dbSNP |
| 12 | g.51915368_51915369delinsGC | CA2036269488 | ACVRL1 | c.646_647delinsGC (p.Ala216=) c.916_917delinsGC (p.Ala306=) c.394_395delinsGC (p.Ala132=) c.958_959delinsGC (p.Ala320=) c.127_128delinsGC (p.Ala43=) | |
| 12 | g.51915373_51915379dup | CA2695216746 | ACVRL1 | c.651_657dup (p.Leu220MetfsTer?) c.921_927dup (p.Leu310MetfsTer?) c.399_405dup (p.Leu136MetfsTer?) c.963_969dup (p.Leu324MetfsTer?) c.132_138dup (p.Leu47MetfsTer?) | |
| 12 | g.51915368_51915369insTCA | CA1139662701 | ACVRL1 | c.646_647insTCA (p.Ala216delinsValThr) c.916_917insTCA (p.Ala306delinsValThr) c.394_395insTCA (p.Ala132delinsValThr) c.958_959insTCA (p.Ala320delinsValThr) c.127_128insTCA (p.Ala43delinsValThr) | ClinVar dbSNP |
| 12 | g.51915369C>A | CA384900973 | ACVRL1 | c.647C>A (p.Ala216Glu) c.917C>A (p.Ala306Glu) c.395C>A (p.Ala132Glu) c.959C>A (p.Ala320Glu) c.128C>A (p.Ala43Glu) | |
| 12 | g.51915369C= | CA2036269490 | ACVRL1 | c.647C= (p.Ala216=) c.917C= (p.Ala306=) c.395C= (p.Ala132=) c.959C= (p.Ala320=) c.128C= (p.Ala43=) | |
| 12 | g.51915369C>G | CA384900969 | ACVRL1 | c.647C>G (p.Ala216Gly) c.917C>G (p.Ala306Gly) c.395C>G (p.Ala132Gly) c.959C>G (p.Ala320Gly) c.128C>G (p.Ala43Gly) | gnomAD v4 |
| 12 | g.51915369C>T | CA6573017 | ACVRL1 | c.647C>T (p.Ala216Val) c.917C>T (p.Ala306Val) c.395C>T (p.Ala132Val) c.959C>T (p.Ala320Val) c.128C>T (p.Ala43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915370G>A | CA480063219 | ACVRL1 | c.648G>A (p.Ala216=) c.918G>A (p.Ala306=) c.396G>A (p.Ala132=) c.960G>A (p.Ala320=) c.129G>A (p.Ala43=) | gnomAD v4 COSMIC |
| 12 | g.51915370G>C | CA480063221 | ACVRL1 | c.648G>C (p.Ala216=) c.918G>C (p.Ala306=) c.396G>C (p.Ala132=) c.960G>C (p.Ala320=) c.129G>C (p.Ala43=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915370G= | CA2036269491 | ACVRL1 | c.648G= (p.Ala216=) c.918G= (p.Ala306=) c.396G= (p.Ala132=) c.960G= (p.Ala320=) c.129G= (p.Ala43=) | |
| 12 | g.51915370G>T | CA480063220 | ACVRL1 | c.648G>T (p.Ala216=) c.918G>T (p.Ala306=) c.396G>T (p.Ala132=) c.960G>T (p.Ala320=) c.129G>T (p.Ala43=) | |
| 12 | g.51915371del | CA2739272050 | ACVRL1 | c.649del (p.Ala217HisfsTer?) c.919del (p.Ala307HisfsTer?) c.397del (p.Ala133HisfsTer?) c.961del (p.Ala321HisfsTer?) c.130del (p.Ala44HisfsTer?) | ClinVar |
| 12 | g.51915371G>A | CA384900975 | ACVRL1 | c.649G>A (p.Ala217Thr) c.919G>A (p.Ala307Thr) c.397G>A (p.Ala133Thr) c.961G>A (p.Ala321Thr) c.130G>A (p.Ala44Thr) | |
| 12 | g.51915371G>C | CA384900976 | ACVRL1 | c.649G>C (p.Ala217Pro) c.919G>C (p.Ala307Pro) c.397G>C (p.Ala133Pro) c.961G>C (p.Ala321Pro) c.130G>C (p.Ala44Pro) | |
| 12 | g.51915371G>T | CA384900983 | ACVRL1 | c.649G>T (p.Ala217Ser) c.919G>T (p.Ala307Ser) c.397G>T (p.Ala133Ser) c.961G>T (p.Ala321Ser) c.130G>T (p.Ala44Ser) | |
| 12 | g.51915372C>A | CA325209 | ACVRL1 | c.650C>A (p.Ala217Glu) c.920C>A (p.Ala307Glu) c.398C>A (p.Ala133Glu) c.962C>A (p.Ala321Glu) c.131C>A (p.Ala44Glu) | ClinVar dbSNP |
| 12 | g.51915372C= | CA2036269492 | ACVRL1 | c.650C= (p.Ala217=) c.920C= (p.Ala307=) c.398C= (p.Ala133=) c.962C= (p.Ala321=) c.131C= (p.Ala44=) | |
| 12 | g.51915372C>G | CA384900989 | ACVRL1 | c.650C>G (p.Ala217Gly) c.920C>G (p.Ala307Gly) c.398C>G (p.Ala133Gly) c.962C>G (p.Ala321Gly) c.131C>G (p.Ala44Gly) | |
| 12 | g.51915372C>T | CA236364091 | ACVRL1 | c.650C>T (p.Ala217Val) c.920C>T (p.Ala307Val) c.398C>T (p.Ala133Val) c.962C>T (p.Ala321Val) c.131C>T (p.Ala44Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915373A>C | CA480063222 | ACVRL1 | c.651A>C (p.Ala217=) c.921A>C (p.Ala307=) c.399A>C (p.Ala133=) c.963A>C (p.Ala321=) c.132A>C (p.Ala44=) | |
| 12 | g.51915373A>G | CA480063223 | ACVRL1 | c.651A>G (p.Ala217=) c.921A>G (p.Ala307=) c.399A>G (p.Ala133=) c.963A>G (p.Ala321=) c.132A>G (p.Ala44=) | |
| 12 | g.51915373A>T | CA480063224 | ACVRL1 | c.651A>T (p.Ala217=) c.921A>T (p.Ala307=) c.399A>T (p.Ala133=) c.963A>T (p.Ala321=) c.132A>T (p.Ala44=) | ClinVar |
| 12 | g.51915374T>A | CA384900998 | ACVRL1 | c.652T>A (p.Cys218Ser) c.922T>A (p.Cys308Ser) c.400T>A (p.Cys134Ser) c.964T>A (p.Cys322Ser) c.133T>A (p.Cys45Ser) | |
| 12 | g.51915374T>C | CA384901009 | ACVRL1 | c.652T>C (p.Cys218Arg) c.922T>C (p.Cys308Arg) c.400T>C (p.Cys134Arg) c.964T>C (p.Cys322Arg) c.133T>C (p.Cys45Arg) | gnomAD v4 |
| 12 | g.51915374T>G | CA384901012 | ACVRL1 | c.652T>G (p.Cys218Gly) c.922T>G (p.Cys308Gly) c.400T>G (p.Cys134Gly) c.964T>G (p.Cys322Gly) c.133T>G (p.Cys45Gly) | |
| 12 | g.51915375G>A | CA384901017 | ACVRL1 | c.653G>A (p.Cys218Tyr) c.923G>A (p.Cys308Tyr) c.401G>A (p.Cys134Tyr) c.965G>A (p.Cys322Tyr) c.134G>A (p.Cys45Tyr) | |
| 12 | g.51915375G>C | CA384901020 | ACVRL1 | c.653G>C (p.Cys218Ser) c.923G>C (p.Cys308Ser) c.401G>C (p.Cys134Ser) c.965G>C (p.Cys322Ser) c.134G>C (p.Cys45Ser) | |
| 12 | g.51915375G>T | CA384901035 | ACVRL1 | c.653G>T (p.Cys218Phe) c.923G>T (p.Cys308Phe) c.401G>T (p.Cys134Phe) c.965G>T (p.Cys322Phe) c.134G>T (p.Cys45Phe) | |
| 12 | g.51915376C>A | CA384901042 | ACVRL1 | c.654C>A (p.Cys218Ter) c.924C>A (p.Cys308Ter) c.402C>A (p.Cys134Ter) c.966C>A (p.Cys322Ter) c.135C>A (p.Cys45Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915376C= | CA2036269493 | ACVRL1 | c.654C= (p.Cys218=) c.924C= (p.Cys308=) c.402C= (p.Cys134=) c.966C= (p.Cys322=) c.135C= (p.Cys45=) | |
| 12 | g.51915376C>G | CA384901039 | ACVRL1 | c.654C>G (p.Cys218Trp) c.924C>G (p.Cys308Trp) c.402C>G (p.Cys134Trp) c.966C>G (p.Cys322Trp) c.135C>G (p.Cys45Trp) | |
| 12 | g.51915376C>T | CA480063225 | ACVRL1 | c.654C>T (p.Cys218=) c.924C>T (p.Cys308=) c.402C>T (p.Cys134=) c.966C>T (p.Cys322=) c.135C>T (p.Cys45=) | dbSNP gnomAD v4 |
| 12 | g.51915377G>A | CA384901046 | ACVRL1 | c.655G>A (p.Gly219Ser) c.925G>A (p.Gly309Ser) c.403G>A (p.Gly135Ser) c.967G>A (p.Gly323Ser) c.136G>A (p.Gly46Ser) | ClinVar dbSNP |
| 12 | g.51915377G>C | CA384901048 | ACVRL1 | c.655G>C (p.Gly219Arg) c.925G>C (p.Gly309Arg) c.403G>C (p.Gly135Arg) c.967G>C (p.Gly323Arg) c.136G>C (p.Gly46Arg) | ClinVar dbSNP |
| 12 | g.51915377G= | CA2036269494 | ACVRL1 | c.655G= (p.Gly219=) c.925G= (p.Gly309=) c.403G= (p.Gly135=) c.967G= (p.Gly323=) c.136G= (p.Gly46=) | |
| 12 | g.51915377G>T | CA384901051 | ACVRL1 | c.655G>T (p.Gly219Cys) c.925G>T (p.Gly309Cys) c.403G>T (p.Gly135Cys) c.967G>T (p.Gly323Cys) c.136G>T (p.Gly46Cys) | |
| 12 | g.51915378G>A | CA384901054 | ACVRL1 | c.656G>A (p.Gly219Asp) c.926G>A (p.Gly309Asp) c.404G>A (p.Gly135Asp) c.968G>A (p.Gly323Asp) c.137G>A (p.Gly46Asp) | ClinVar |
| 12 | g.51915378G>C | CA384901056 | ACVRL1 | c.656G>C (p.Gly219Ala) c.926G>C (p.Gly309Ala) c.404G>C (p.Gly135Ala) c.968G>C (p.Gly323Ala) c.137G>C (p.Gly46Ala) | |
| 12 | g.51915378G>T | CA384901058 | ACVRL1 | c.656G>T (p.Gly219Val) c.926G>T (p.Gly309Val) c.404G>T (p.Gly135Val) c.968G>T (p.Gly323Val) c.137G>T (p.Gly46Val) | ClinVar COSMIC COSMIC |
| 12 | g.51915379C>A | CA6573018 | ACVRL1 | c.657C>A (p.Gly219=) c.927C>A (p.Gly309=) c.405C>A (p.Gly135=) c.969C>A (p.Gly323=) c.138C>A (p.Gly46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915379C= | CA2036269497 | ACVRL1 | c.657C= (p.Gly219=) c.927C= (p.Gly309=) c.405C= (p.Gly135=) c.969C= (p.Gly323=) c.138C= (p.Gly46=) | |
| 12 | g.51915379C>G | CA480063226 | ACVRL1 | c.657C>G (p.Gly219=) c.927C>G (p.Gly309=) c.405C>G (p.Gly135=) c.969C>G (p.Gly323=) c.138C>G (p.Gly46=) | |
| 12 | g.51915379C>T | CA480063227 | ACVRL1 | c.657C>T (p.Gly219=) c.927C>T (p.Gly309=) c.405C>T (p.Gly135=) c.969C>T (p.Gly323=) c.138C>T (p.Gly46=) | gnomAD v4 |
| 12 | g.51915379_51915380delinsAT | CA915948524 | ACVRL1 | c.657_658delinsAT (p.Gly219=) c.927_928delinsAT (p.Gly309=) c.405_406delinsAT (p.Gly135=) c.969_970delinsAT (p.Gly323=) c.138_139delinsAT (p.Gly46=) | ClinVar dbSNP |
| 12 | g.51915379_51915380delinsCC | CA2036269496 | ACVRL1 | c.657_658delinsCC (p.Gly219=) c.927_928delinsCC (p.Gly309=) c.405_406delinsCC (p.Gly135=) c.969_970delinsCC (p.Gly323=) c.138_139delinsCC (p.Gly46=) | |
| 12 | g.51915379_51915383delinsCCTGG | CA2036269495 | ACVRL1 | c.657_661delinsCCTGG (p.Gly219=) c.927_931delinsCCTGG (p.Gly309=) c.405_409delinsCCTGG (p.Gly135=) c.969_973delinsCCTGG (p.Gly323=) c.138_142delinsCCTGG (p.Gly46=) | |
| 12 | g.51915380C>A | CA384901069 | ACVRL1 | c.658C>A (p.Leu220Met) c.928C>A (p.Leu310Met) c.406C>A (p.Leu136Met) c.970C>A (p.Leu324Met) c.139C>A (p.Leu47Met) | |
| 12 | g.51915380C= | CA2036269498 | ACVRL1 | c.658C= (p.Leu220=) c.928C= (p.Leu310=) c.406C= (p.Leu136=) c.970C= (p.Leu324=) c.139C= (p.Leu47=) | |
| 12 | g.51915380C>G | CA384901077 | ACVRL1 | c.658C>G (p.Leu220Val) c.928C>G (p.Leu310Val) c.406C>G (p.Leu136Val) c.970C>G (p.Leu324Val) c.139C>G (p.Leu47Val) | gnomAD v4 |
| 12 | g.51915380C>T | CA6573019 | ACVRL1 | c.658C>T (p.Leu220=) c.928C>T (p.Leu310=) c.406C>T (p.Leu136=) c.970C>T (p.Leu324=) c.139C>T (p.Leu47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915381_51915384del | CA1139662702 | ACVRL1 | c.659_662del (p.Leu220ArgfsTer?) c.929_932del (p.Leu310ArgfsTer?) c.407_410del (p.Leu136ArgfsTer?) c.971_974del (p.Leu324ArgfsTer?) c.140_143del (p.Leu47ArgfsTer?) | ClinVar dbSNP |
| 12 | g.51915381T>A | CA384901081 | ACVRL1 | c.659T>A (p.Leu220Gln) c.929T>A (p.Leu310Gln) c.407T>A (p.Leu136Gln) c.971T>A (p.Leu324Gln) c.140T>A (p.Leu47Gln) | |
| 12 | g.51915381T>C | CA384901083 | ACVRL1 | c.659T>C (p.Leu220Pro) c.929T>C (p.Leu310Pro) c.407T>C (p.Leu136Pro) c.971T>C (p.Leu324Pro) c.140T>C (p.Leu47Pro) | |
| 12 | g.51915381T>G | CA384901085 | ACVRL1 | c.659T>G (p.Leu220Arg) c.929T>G (p.Leu310Arg) c.407T>G (p.Leu136Arg) c.971T>G (p.Leu324Arg) c.140T>G (p.Leu47Arg) | |
| 12 | g.51915382G>A | CA480063231 | ACVRL1 | c.660G>A (p.Leu220=) c.930G>A (p.Leu310=) c.408G>A (p.Leu136=) c.972G>A (p.Leu324=) c.141G>A (p.Leu47=) | gnomAD v4 |
| 12 | g.51915382G>C | CA480063228 | ACVRL1 | c.660G>C (p.Leu220=) c.930G>C (p.Leu310=) c.408G>C (p.Leu136=) c.972G>C (p.Leu324=) c.141G>C (p.Leu47=) | |
| 12 | g.51915382G>T | CA480063229 | ACVRL1 | c.660G>T (p.Leu220=) c.930G>T (p.Leu310=) c.408G>T (p.Leu136=) c.972G>T (p.Leu324=) c.141G>T (p.Leu47=) | |
| 12 | g.51915383dup | CA2573148783 | ACVRL1 | c.661dup (p.Ala221GlyfsTer?) c.931dup (p.Ala311GlyfsTer?) c.409dup (p.Ala137GlyfsTer?) c.973dup (p.Ala325GlyfsTer?) c.142dup (p.Ala48GlyfsTer?) | ClinVar dbSNP |
| 12 | g.51915383G>A | CA6573020 | ACVRL1 | c.661G>A (p.Ala221Thr) c.931G>A (p.Ala311Thr) c.409G>A (p.Ala137Thr) c.973G>A (p.Ala325Thr) c.142G>A (p.Ala48Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915383G>C | CA384901108 | ACVRL1 | c.661G>C (p.Ala221Pro) c.931G>C (p.Ala311Pro) c.409G>C (p.Ala137Pro) c.973G>C (p.Ala325Pro) c.142G>C (p.Ala48Pro) | ClinVar dbSNP |
| 12 | g.51915383G= | CA2036269499 | ACVRL1 | c.661G= (p.Ala221=) c.931G= (p.Ala311=) c.409G= (p.Ala137=) c.973G= (p.Ala325=) c.142G= (p.Ala48=) | |
| 12 | g.51915383G>T | CA384901093 | ACVRL1 | c.661G>T (p.Ala221Ser) c.931G>T (p.Ala311Ser) c.409G>T (p.Ala137Ser) c.973G>T (p.Ala325Ser) c.142G>T (p.Ala48Ser) | |
| 12 | g.51915384C>A | CA384901113 | ACVRL1 | c.662C>A (p.Ala221Glu) c.932C>A (p.Ala311Glu) c.410C>A (p.Ala137Glu) c.974C>A (p.Ala325Glu) c.143C>A (p.Ala48Glu) | |
| 12 | g.51915384C= | CA2036269500 | ACVRL1 | c.662C= (p.Ala221=) c.932C= (p.Ala311=) c.410C= (p.Ala137=) c.974C= (p.Ala325=) c.143C= (p.Ala48=) | |
| 12 | g.51915384C>G | CA6573021 | ACVRL1 | c.662C>G (p.Ala221Gly) c.932C>G (p.Ala311Gly) c.410C>G (p.Ala137Gly) c.974C>G (p.Ala325Gly) c.143C>G (p.Ala48Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915384C>T | CA384901114 | ACVRL1 | c.662C>T (p.Ala221Val) c.932C>T (p.Ala311Val) c.410C>T (p.Ala137Val) c.974C>T (p.Ala325Val) c.143C>T (p.Ala48Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51915385G>A | CA6573022 | ACVRL1 | c.663G>A (p.Ala221=) c.933G>A (p.Ala311=) c.411G>A (p.Ala137=) c.975G>A (p.Ala325=) c.144G>A (p.Ala48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915385G>C | CA480063233 | ACVRL1 | c.663G>C (p.Ala221=) c.933G>C (p.Ala311=) c.411G>C (p.Ala137=) c.975G>C (p.Ala325=) c.144G>C (p.Ala48=) | ClinVar |
| 12 | g.51915385G= | CA2036269501 | ACVRL1 | c.663G= (p.Ala221=) c.933G= (p.Ala311=) c.411G= (p.Ala137=) c.975G= (p.Ala325=) c.144G= (p.Ala48=) | |
| 12 | g.51915385G>T | CA480063234 | ACVRL1 | c.663G>T (p.Ala221=) c.933G>T (p.Ala311=) c.411G>T (p.Ala137=) c.975G>T (p.Ala325=) c.144G>T (p.Ala48=) | |
| 12 | g.51915386C>A | CA384901116 | ACVRL1 | c.664C>A (p.His222Asn) c.934C>A (p.His312Asn) c.412C>A (p.His138Asn) c.976C>A (p.His326Asn) c.145C>A (p.His49Asn) | |
| 12 | g.51915386C>G | CA384901119 | ACVRL1 | c.664C>G (p.His222Asp) c.934C>G (p.His312Asp) c.412C>G (p.His138Asp) c.976C>G (p.His326Asp) c.145C>G (p.His49Asp) | |
| 12 | g.51915386C>T | CA384901129 | ACVRL1 | c.664C>T (p.His222Tyr) c.934C>T (p.His312Tyr) c.412C>T (p.His138Tyr) c.976C>T (p.His326Tyr) c.145C>T (p.His49Tyr) | |
| 12 | g.51915387A= | CA2036269502 | ACVRL1 | c.665A= (p.His222=) c.935A= (p.His312=) c.413A= (p.His138=) c.977A= (p.His326=) c.146A= (p.His49=) | |
| 12 | g.51915387A>C | CA384901133 | ACVRL1 | c.665A>C (p.His222Pro) c.935A>C (p.His312Pro) c.413A>C (p.His138Pro) c.977A>C (p.His326Pro) c.146A>C (p.His49Pro) | ClinVar dbSNP |
| 12 | g.51915387A>G | CA384901135 | ACVRL1 | c.665A>G (p.His222Arg) c.935A>G (p.His312Arg) c.413A>G (p.His138Arg) c.977A>G (p.His326Arg) c.146A>G (p.His49Arg) | |
| 12 | g.51915387A>T | CA384901137 | ACVRL1 | c.665A>T (p.His222Leu) c.935A>T (p.His312Leu) c.413A>T (p.His138Leu) c.977A>T (p.His326Leu) c.146A>T (p.His49Leu) | |
| 12 | g.51915388C>A | CA384901143 | ACVRL1 | c.666C>A (p.His222Gln) c.936C>A (p.His312Gln) c.414C>A (p.His138Gln) c.978C>A (p.His326Gln) c.147C>A (p.His49Gln) | |
| 12 | g.51915388C= | CA2036269503 | ACVRL1 | c.666C= (p.His222=) c.936C= (p.His312=) c.414C= (p.His138=) c.978C= (p.His326=) c.147C= (p.His49=) | |
| 12 | g.51915388C>G | CA384901156 | ACVRL1 | c.666C>G (p.His222Gln) c.936C>G (p.His312Gln) c.414C>G (p.His138Gln) c.978C>G (p.His326Gln) c.147C>G (p.His49Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51915388C>T | CA480063236 | ACVRL1 | c.666C>T (p.His222=) c.936C>T (p.His312=) c.414C>T (p.His138=) c.978C>T (p.His326=) c.147C>T (p.His49=) | |
| 12 | g.51915389C>A | CA384901158 | ACVRL1 | c.667C>A (p.Leu223Met) c.937C>A (p.Leu313Met) c.415C>A (p.Leu139Met) c.979C>A (p.Leu327Met) c.148C>A (p.Leu50Met) | |
| 12 | g.51915389C>G | CA384901162 | ACVRL1 | c.667C>G (p.Leu223Val) c.937C>G (p.Leu313Val) c.415C>G (p.Leu139Val) c.979C>G (p.Leu327Val) c.148C>G (p.Leu50Val) | |
| 12 | g.51915389C>T | CA480063237 | ACVRL1 | c.667C>T (p.Leu223=) c.937C>T (p.Leu313=) c.415C>T (p.Leu139=) c.979C>T (p.Leu327=) c.148C>T (p.Leu50=) | gnomAD v4 |
| 12 | g.51915390T>A | CA384901170 | ACVRL1 | c.668T>A (p.Leu223Gln) c.938T>A (p.Leu313Gln) c.416T>A (p.Leu139Gln) c.980T>A (p.Leu327Gln) c.149T>A (p.Leu50Gln) | |
| 12 | g.51915390T>C | CA384901176 | ACVRL1 | c.668T>C (p.Leu223Pro) c.938T>C (p.Leu313Pro) c.416T>C (p.Leu139Pro) c.980T>C (p.Leu327Pro) c.149T>C (p.Leu50Pro) | |
| 12 | g.51915390T>G | CA384901168 | ACVRL1 | c.668T>G (p.Leu223Arg) c.938T>G (p.Leu313Arg) c.416T>G (p.Leu139Arg) c.980T>G (p.Leu327Arg) c.149T>G (p.Leu50Arg) | ClinVar |
| 12 | g.51915391G>A | CA480063238 | ACVRL1 | c.669G>A (p.Leu223=) c.939G>A (p.Leu313=) c.417G>A (p.Leu139=) c.981G>A (p.Leu327=) c.150G>A (p.Leu50=) | |
| 12 | g.51915391G>C | CA480063240 | ACVRL1 | c.669G>C (p.Leu223=) c.939G>C (p.Leu313=) c.417G>C (p.Leu139=) c.981G>C (p.Leu327=) c.150G>C (p.Leu50=) | |
| 12 | g.51915391G>T | CA480063242 | ACVRL1 | c.669G>T (p.Leu223=) c.939G>T (p.Leu313=) c.417G>T (p.Leu139=) c.981G>T (p.Leu327=) c.150G>T (p.Leu50=) | |
| 12 | g.51915392C>A | CA384901179 | ACVRL1 | c.670C>A (p.His224Asn) c.940C>A (p.His314Asn) c.418C>A (p.His140Asn) c.982C>A (p.His328Asn) c.151C>A (p.His51Asn) | ClinVar dbSNP |
| 12 | g.51915392C= | CA2036269504 | ACVRL1 | c.670C= (p.His224=) c.940C= (p.His314=) c.418C= (p.His140=) c.982C= (p.His328=) c.151C= (p.His51=) | |
| 12 | g.51915392C>G | CA384901180 | ACVRL1 | c.670C>G (p.His224Asp) c.940C>G (p.His314Asp) c.418C>G (p.His140Asp) c.982C>G (p.His328Asp) c.151C>G (p.His51Asp) | |
| 12 | g.51915392C>T | CA384901181 | ACVRL1 | c.670C>T (p.His224Tyr) c.940C>T (p.His314Tyr) c.418C>T (p.His140Tyr) c.982C>T (p.His328Tyr) c.151C>T (p.His51Tyr) | ClinVar dbSNP |
| 12 | g.51915393_51915403del | CA2695216747 | ACVRL1 | c.671_681del (p.His224LeufsTer?) c.941_951del (p.His314LeufsTer?) c.419_429del (p.His140LeufsTer?) c.983_993del (p.His328LeufsTer?) c.152_162del (p.His51LeufsTer?) | |
| 12 | g.51915393A>C | CA384901182 | ACVRL1 | c.671A>C (p.His224Pro) c.941A>C (p.His314Pro) c.419A>C (p.His140Pro) c.983A>C (p.His328Pro) c.152A>C (p.His51Pro) | |
| 12 | g.51915393A>G | CA384901183 | ACVRL1 | c.671A>G (p.His224Arg) c.941A>G (p.His314Arg) c.419A>G (p.His140Arg) c.983A>G (p.His328Arg) c.152A>G (p.His51Arg) | |
| 12 | g.51915393A>T | CA384901186 | ACVRL1 | c.671A>T (p.His224Leu) c.941A>T (p.His314Leu) c.419A>T (p.His140Leu) c.983A>T (p.His328Leu) c.152A>T (p.His51Leu) | |
| 12 | g.51915394C>A | CA384901188 | ACVRL1 | c.672C>A (p.His224Gln) c.942C>A (p.His314Gln) c.420C>A (p.His140Gln) c.984C>A (p.His328Gln) c.153C>A (p.His51Gln) | |
| 12 | g.51915394C>G | CA384901187 | ACVRL1 | c.672C>G (p.His224Gln) c.942C>G (p.His314Gln) c.420C>G (p.His140Gln) c.984C>G (p.His328Gln) c.153C>G (p.His51Gln) | |
| 12 | g.51915394C>T | CA480063246 | ACVRL1 | c.672C>T (p.His224=) c.942C>T (p.His314=) c.420C>T (p.His140=) c.984C>T (p.His328=) c.153C>T (p.His51=) | |
| 12 | g.51915395G>A | CA384901189 | ACVRL1 | c.673G>A (p.Val225Met) c.943G>A (p.Val315Met) c.421G>A (p.Val141Met) c.985G>A (p.Val329Met) c.154G>A (p.Val52Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915395G>C | CA384901190 | ACVRL1 | c.673G>C (p.Val225Leu) c.943G>C (p.Val315Leu) c.421G>C (p.Val141Leu) c.985G>C (p.Val329Leu) c.154G>C (p.Val52Leu) | dbSNP gnomAD v2 |
| 12 | g.51915395G= | CA2036269505 | ACVRL1 | c.673G= (p.Val225=) c.943G= (p.Val315=) c.421G= (p.Val141=) c.985G= (p.Val329=) c.154G= (p.Val52=) | |
| 12 | g.51915395G>T | CA384901191 | ACVRL1 | c.673G>T (p.Val225Leu) c.943G>T (p.Val315Leu) c.421G>T (p.Val141Leu) c.985G>T (p.Val329Leu) c.154G>T (p.Val52Leu) | |
| 12 | g.51915396T>A | CA384901193 | ACVRL1 | c.674T>A (p.Val225Glu) c.944T>A (p.Val315Glu) c.422T>A (p.Val141Glu) c.986T>A (p.Val329Glu) c.155T>A (p.Val52Glu) | |
| 12 | g.51915396T>C | CA384901203 | ACVRL1 | c.674T>C (p.Val225Ala) c.944T>C (p.Val315Ala) c.422T>C (p.Val141Ala) c.986T>C (p.Val329Ala) c.155T>C (p.Val52Ala) | |
| 12 | g.51915396T>G | CA384901205 | ACVRL1 | c.674T>G (p.Val225Gly) c.944T>G (p.Val315Gly) c.422T>G (p.Val141Gly) c.986T>G (p.Val329Gly) c.155T>G (p.Val52Gly) | |
| 12 | g.51915397G>A | CA480063248 | ACVRL1 | c.675G>A (p.Val225=) c.945G>A (p.Val315=) c.423G>A (p.Val141=) c.987G>A (p.Val329=) c.156G>A (p.Val52=) | gnomAD v4 |
| 12 | g.51915397G>C | CA480063249 | ACVRL1 | c.675G>C (p.Val225=) c.945G>C (p.Val315=) c.423G>C (p.Val141=) c.987G>C (p.Val329=) c.156G>C (p.Val52=) | |
| 12 | g.51915397G>T | CA480063250 | ACVRL1 | c.675G>T (p.Val225=) c.945G>T (p.Val315=) c.423G>T (p.Val141=) c.987G>T (p.Val329=) c.156G>T (p.Val52=) | |
| 12 | g.51915398G>A | CA384901209 | ACVRL1 | c.676G>A (p.Glu226Lys) c.946G>A (p.Glu316Lys) c.424G>A (p.Glu142Lys) c.988G>A (p.Glu330Lys) c.157G>A (p.Glu53Lys) | gnomAD v4 |
| 12 | g.51915398G>C | CA384901213 | ACVRL1 | c.676G>C (p.Glu226Gln) c.946G>C (p.Glu316Gln) c.424G>C (p.Glu142Gln) c.988G>C (p.Glu330Gln) c.157G>C (p.Glu53Gln) | |
| 12 | g.51915398G= | CA2036269506 | ACVRL1 | c.676G= (p.Glu226=) c.946G= (p.Glu316=) c.424G= (p.Glu142=) c.988G= (p.Glu330=) c.157G= (p.Glu53=) | |
| 12 | g.51915398G>T | CA384901211 | ACVRL1 | c.676G>T (p.Glu226Ter) c.946G>T (p.Glu316Ter) c.424G>T (p.Glu142Ter) c.988G>T (p.Glu330Ter) c.157G>T (p.Glu53Ter) | dbSNP gnomAD v2 |
| 12 | g.51915399A>C | CA384901214 | ACVRL1 | c.677A>C (p.Glu226Ala) c.947A>C (p.Glu316Ala) c.425A>C (p.Glu142Ala) c.989A>C (p.Glu330Ala) c.158A>C (p.Glu53Ala) | |
| 12 | g.51915399A>G | CA384901216 | ACVRL1 | c.677A>G (p.Glu226Gly) c.947A>G (p.Glu316Gly) c.425A>G (p.Glu142Gly) c.989A>G (p.Glu330Gly) c.158A>G (p.Glu53Gly) | |
| 12 | g.51915399A>T | CA384901220 | ACVRL1 | c.677A>T (p.Glu226Val) c.947A>T (p.Glu316Val) c.425A>T (p.Glu142Val) c.989A>T (p.Glu330Val) c.158A>T (p.Glu53Val) | |
| 12 | g.51915400G>A | CA480063251 | ACVRL1 | c.678G>A (p.Glu226=) c.948G>A (p.Glu316=) c.426G>A (p.Glu142=) c.990G>A (p.Glu330=) c.159G>A (p.Glu53=) | dbSNP |
| 12 | g.51915400G>C | CA6573023 | ACVRL1 | c.678G>C (p.Glu226Asp) c.948G>C (p.Glu316Asp) c.426G>C (p.Glu142Asp) c.990G>C (p.Glu330Asp) c.159G>C (p.Glu53Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915400G= | CA2036269507 | ACVRL1 | c.678G= (p.Glu226=) c.948G= (p.Glu316=) c.426G= (p.Glu142=) c.990G= (p.Glu330=) c.159G= (p.Glu53=) | |
| 12 | g.51915400G>T | CA384901225 | ACVRL1 | c.678G>T (p.Glu226Asp) c.948G>T (p.Glu316Asp) c.426G>T (p.Glu142Asp) c.990G>T (p.Glu330Asp) c.159G>T (p.Glu53Asp) | dbSNP gnomAD v4 |
| 12 | g.51915401A>C | CA384901228 | ACVRL1 | c.679A>C (p.Ile227Leu) c.949A>C (p.Ile317Leu) c.427A>C (p.Ile143Leu) c.991A>C (p.Ile331Leu) c.160A>C (p.Ile54Leu) | |
| 12 | g.51915401A>G | CA384901230 | ACVRL1 | c.679A>G (p.Ile227Val) c.949A>G (p.Ile317Val) c.427A>G (p.Ile143Val) c.991A>G (p.Ile331Val) c.160A>G (p.Ile54Val) | |
| 12 | g.51915401A>T | CA384901233 | ACVRL1 | c.679A>T (p.Ile227Phe) c.949A>T (p.Ile317Phe) c.427A>T (p.Ile143Phe) c.991A>T (p.Ile331Phe) c.160A>T (p.Ile54Phe) | |
| 12 | g.51915402T>A | CA384901235 | ACVRL1 | c.680T>A (p.Ile227Asn) c.950T>A (p.Ile317Asn) c.428T>A (p.Ile143Asn) c.992T>A (p.Ile331Asn) c.161T>A (p.Ile54Asn) | |
| 12 | g.51915402T>C | CA384901237 | ACVRL1 | c.680T>C (p.Ile227Thr) c.950T>C (p.Ile317Thr) c.428T>C (p.Ile143Thr) c.992T>C (p.Ile331Thr) c.161T>C (p.Ile54Thr) | ClinVar dbSNP |
| 12 | g.51915402T>G | CA384901239 | ACVRL1 | c.680T>G (p.Ile227Ser) c.950T>G (p.Ile317Ser) c.428T>G (p.Ile143Ser) c.992T>G (p.Ile331Ser) c.161T>G (p.Ile54Ser) | |
| 12 | g.51915402T= | CA2036269508 | ACVRL1 | c.680T= (p.Ile227=) c.950T= (p.Ile317=) c.428T= (p.Ile143=) c.992T= (p.Ile331=) c.161T= (p.Ile54=) | |
| 12 | g.51915403C>A | CA480063252 | ACVRL1 | c.681C>A (p.Ile227=) c.951C>A (p.Ile317=) c.429C>A (p.Ile143=) c.993C>A (p.Ile331=) c.162C>A (p.Ile54=) | |
| 12 | g.51915403C>G | CA384901241 | ACVRL1 | c.681C>G (p.Ile227Met) c.951C>G (p.Ile317Met) c.429C>G (p.Ile143Met) c.993C>G (p.Ile331Met) c.162C>G (p.Ile54Met) | |
| 12 | g.51915403C>T | CA480063253 | ACVRL1 | c.681C>T (p.Ile227=) c.951C>T (p.Ile317=) c.429C>T (p.Ile143=) c.993C>T (p.Ile331=) c.162C>T (p.Ile54=) | |
| 12 | g.51915403_51915404delinsCT | CA2036269509 | ACVRL1 | c.681_682delinsCT (p.Ile227=) c.951_952delinsCT (p.Ile317=) c.429_430delinsCT (p.Ile143=) c.993_994delinsCT (p.Ile331=) c.162_163delinsCT (p.Ile54=) | |
| 12 | g.51915404T>A | CA384901246 | ACVRL1 | c.682T>A (p.Phe228Ile) c.952T>A (p.Phe318Ile) c.430T>A (p.Phe144Ile) c.994T>A (p.Phe332Ile) c.163T>A (p.Phe55Ile) | |
| 12 | g.51915404T>C | CA384901244 | ACVRL1 | c.682T>C (p.Phe228Leu) c.952T>C (p.Phe318Leu) c.430T>C (p.Phe144Leu) c.994T>C (p.Phe332Leu) c.163T>C (p.Phe55Leu) | |
| 12 | g.51915404T>G | CA384901248 | ACVRL1 | c.682T>G (p.Phe228Val) c.952T>G (p.Phe318Val) c.430T>G (p.Phe144Val) c.994T>G (p.Phe332Val) c.163T>G (p.Phe55Val) | |
| 12 | g.51915405del | CA605238840 | ACVRL1 | c.683del (p.Phe228SerfsTer?) c.953del (p.Phe318SerfsTer?) c.431del (p.Phe144SerfsTer?) c.995del (p.Phe332SerfsTer?) c.164del (p.Phe55SerfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915405T>A | CA384901250 | ACVRL1 | c.683T>A (p.Phe228Tyr) c.953T>A (p.Phe318Tyr) c.431T>A (p.Phe144Tyr) c.995T>A (p.Phe332Tyr) c.164T>A (p.Phe55Tyr) | |
| 12 | g.51915405T>C | CA384901261 | ACVRL1 | c.683T>C (p.Phe228Ser) c.953T>C (p.Phe318Ser) c.431T>C (p.Phe144Ser) c.995T>C (p.Phe332Ser) c.164T>C (p.Phe55Ser) | |
| 12 | g.51915405T>G | CA384901259 | ACVRL1 | c.683T>G (p.Phe228Cys) c.953T>G (p.Phe318Cys) c.431T>G (p.Phe144Cys) c.995T>G (p.Phe332Cys) c.164T>G (p.Phe55Cys) |