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 |
|---|---|---|---|---|---|
| 10 | g.122489505C>A | CA378581092 | HTRA1 | c.656C>A (p.Ala219Asp) c.338C>A (p.Ala113Asp) | |
| 10 | g.122489505C>G | CA378581094 | HTRA1 | c.656C>G (p.Ala219Gly) c.338C>G (p.Ala113Gly) | |
| 10 | g.122489505C>T | CA378581096 | HTRA1 | c.656C>T (p.Ala219Val) c.338C>T (p.Ala113Val) | COSMIC |
| 10 | g.122489506C>A | CA471664411 | HTRA1 | c.657C>A (p.Ala219=) c.339C>A (p.Ala113=) | |
| 10 | g.122489506C>G | CA471664413 | HTRA1 | c.657C>G (p.Ala219=) c.339C>G (p.Ala113=) | dbSNP |
| 10 | g.122489506C>T | CA471664415 | HTRA1 | c.657C>T (p.Ala219=) c.339C>T (p.Ala113=) | gnomAD v4 |
| 10 | g.122489507C>A | CA378581099 | HTRA1 | c.658C>A (p.His220Asn) c.340C>A (p.His114Asn) | |
| 10 | g.122489507C>G | CA378581101 | HTRA1 | c.658C>G (p.His220Asp) c.340C>G (p.His114Asp) | |
| 10 | g.122489507C>T | CA378581103 | HTRA1 | c.658C>T (p.His220Tyr) c.340C>T (p.His114Tyr) | |
| 10 | g.122489508A>C | CA378581110 | HTRA1 | c.659A>C (p.His220Pro) c.341A>C (p.His114Pro) | |
| 10 | g.122489508A>G | CA378581105 | HTRA1 | c.659A>G (p.His220Arg) c.341A>G (p.His114Arg) | |
| 10 | g.122489508A>T | CA378581108 | HTRA1 | c.659A>T (p.His220Leu) c.341A>T (p.His114Leu) | |
| 10 | g.122489509C>A | CA378581112 | HTRA1 | c.660C>A (p.His220Gln) c.342C>A (p.His114Gln) | dbSNP |
| 10 | g.122489509C= | CA1941464784 | HTRA1 | c.660C= (p.His220=) c.342C= (p.His114=) | |
| 10 | g.122489509C>G | CA378581114 | HTRA1 | c.660C>G (p.His220Gln) c.342C>G (p.His114Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489509C>T | CA471664422 | HTRA1 | c.660C>T (p.His220=) c.342C>T (p.His114=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.122489510G>A | CA378581116 | HTRA1 | c.661G>A (p.Val221Met) c.343G>A (p.Val115Met) | gnomAD v4 |
| 10 | g.122489510G>C | CA378581117 | HTRA1 | c.661G>C (p.Val221Leu) c.343G>C (p.Val115Leu) | |
| 10 | g.122489510G>T | CA378581119 | HTRA1 | c.661G>T (p.Val221Leu) c.343G>T (p.Val115Leu) | gnomAD v4 |
| 10 | g.122489511T>A | CA378581124 | HTRA1 | c.662T>A (p.Val221Glu) c.344T>A (p.Val115Glu) | |
| 10 | g.122489511T>C | CA378581121 | HTRA1 | c.662T>C (p.Val221Ala) c.344T>C (p.Val115Ala) | |
| 10 | g.122489511T>G | CA378581123 | HTRA1 | c.662T>G (p.Val221Gly) c.344T>G (p.Val115Gly) | |
| 10 | g.122489512G>A | CA5725890 | HTRA1 | c.663G>A (p.Val221=) c.345G>A (p.Val115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489512G>C | CA471664428 | HTRA1 | c.663G>C (p.Val221=) c.345G>C (p.Val115=) | gnomAD v4 |
| 10 | g.122489512G= | CA1941464794 | HTRA1 | c.663G= (p.Val221=) c.345G= (p.Val115=) | |
| 10 | g.122489512G>T | CA471664430 | HTRA1 | c.663G>T (p.Val221=) c.345G>T (p.Val115=) | |
| 10 | g.122489513G>A | CA378581127 | HTRA1 | c.664G>A (p.Val222Met) c.346G>A (p.Val116Met) | |
| 10 | g.122489513G>C | CA378581128 | HTRA1 | c.664G>C (p.Val222Leu) c.346G>C (p.Val116Leu) | |
| 10 | g.122489513G>T | CA378581129 | HTRA1 | c.664G>T (p.Val222Leu) c.346G>T (p.Val116Leu) | |
| 10 | g.122489514T>A | CA378581131 | HTRA1 | c.665T>A (p.Val222Glu) c.347T>A (p.Val116Glu) | |
| 10 | g.122489514T>C | CA378581133 | HTRA1 | c.665T>C (p.Val222Ala) c.347T>C (p.Val116Ala) | |
| 10 | g.122489514T>G | CA378581135 | HTRA1 | c.665T>G (p.Val222Gly) c.347T>G (p.Val116Gly) | |
| 10 | g.122489515G>A | CA471664436 | HTRA1 | c.666G>A (p.Val222=) c.348G>A (p.Val116=) | dbSNP gnomAD v4 |
| 10 | g.122489515G>C | CA471664438 | HTRA1 | c.666G>C (p.Val222=) c.348G>C (p.Val116=) | |
| 10 | g.122489515G= | CA1941464797 | HTRA1 | c.666G= (p.Val222=) c.348G= (p.Val116=) | |
| 10 | g.122489515G>T | CA471664439 | HTRA1 | c.666G>T (p.Val222=) c.348G>T (p.Val116=) | |
| 10 | g.122489516A>C | CA378581137 | HTRA1 | c.667A>C (p.Thr223Pro) c.349A>C (p.Thr117Pro) | |
| 10 | g.122489516A>G | CA378581139 | HTRA1 | c.667A>G (p.Thr223Ala) c.349A>G (p.Thr117Ala) | gnomAD v4 |
| 10 | g.122489516A>T | CA378581141 | HTRA1 | c.667A>T (p.Thr223Ser) c.349A>T (p.Thr117Ser) | |
| 10 | g.122489517C>A | CA378581143 | HTRA1 | c.668C>A (p.Thr223Asn) c.350C>A (p.Thr117Asn) | |
| 10 | g.122489517C= | CA1941464800 | HTRA1 | c.668C= (p.Thr223=) c.350C= (p.Thr117=) | |
| 10 | g.122489517C>G | CA378581145 | HTRA1 | c.668C>G (p.Thr223Ser) c.350C>G (p.Thr117Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.122489517C>T | CA378581147 | HTRA1 | c.668C>T (p.Thr223Ile) c.350C>T (p.Thr117Ile) | gnomAD v4 |
| 10 | g.122489518C>A | CA471664444 | HTRA1 | c.669C>A (p.Thr223=) c.351C>A (p.Thr117=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489518C= | CA1941464802 | HTRA1 | c.669C= (p.Thr223=) c.351C= (p.Thr117=) | |
| 10 | g.122489518C>G | CA471664446 | HTRA1 | c.669C>G (p.Thr223=) c.351C>G (p.Thr117=) | gnomAD v4 |
| 10 | g.122489518C>T | CA471664447 | HTRA1 | c.669C>T (p.Thr223=) c.351C>T (p.Thr117=) | |
| 10 | g.122489519A>C | CA378581149 | HTRA1 | c.670A>C (p.Asn224His) c.352A>C (p.Asn118His) | |
| 10 | g.122489519A>G | CA378581153 | HTRA1 | c.670A>G (p.Asn224Asp) c.352A>G (p.Asn118Asp) | |
| 10 | g.122489519A>T | CA378581151 | HTRA1 | c.670A>T (p.Asn224Tyr) c.352A>T (p.Asn118Tyr) | |
| 10 | g.122489520del | CA2580082433 | HTRA1 | c.671del (p.Asn224ThrfsTer9) c.353del (p.Asn118ThrfsTer9) | ClinVar |
| 10 | g.122489520A= | CA1941464805 | HTRA1 | c.671A= (p.Asn224=) c.353A= (p.Asn118=) | |
| 10 | g.122489520A>C | CA378581155 | HTRA1 | c.671A>C (p.Asn224Thr) c.353A>C (p.Asn118Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122489520A>G | CA5725891 | HTRA1 | c.671A>G (p.Asn224Ser) c.353A>G (p.Asn118Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489520A>T | CA378581158 | HTRA1 | c.671A>T (p.Asn224Ile) c.353A>T (p.Asn118Ile) | |
| 10 | g.122489521C>A | CA5725892 | HTRA1 | c.672C>A (p.Asn224Lys) c.354C>A (p.Asn118Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489521C= | CA1941464808 | HTRA1 | c.672C= (p.Asn224=) c.354C= (p.Asn118=) | |
| 10 | g.122489521C>G | CA378581161 | HTRA1 | c.672C>G (p.Asn224Lys) c.354C>G (p.Asn118Lys) | gnomAD v4 |
| 10 | g.122489521C>T | CA471664454 | HTRA1 | c.672C>T (p.Asn224=) c.354C>T (p.Asn118=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.122489522A>C | CA378581163 | HTRA1 | c.673A>C (p.Lys225Gln) c.355A>C (p.Lys119Gln) | |
| 10 | g.122489522A>G | CA378581165 | HTRA1 | c.673A>G (p.Lys225Glu) c.355A>G (p.Lys119Glu) | |
| 10 | g.122489522A>T | CA378581167 | HTRA1 | c.673A>T (p.Lys225Ter) c.355A>T (p.Lys119Ter) | |
| 10 | g.122489523A>C | CA378581169 | HTRA1 | c.674A>C (p.Lys225Thr) c.356A>C (p.Lys119Thr) | |
| 10 | g.122489523A>G | CA378581170 | HTRA1 | c.674A>G (p.Lys225Arg) c.356A>G (p.Lys119Arg) | |
| 10 | g.122489523A>T | CA378581172 | HTRA1 | c.674A>T (p.Lys225Met) c.356A>T (p.Lys119Met) | |
| 10 | g.122489524G>A | CA471664461 | HTRA1 | c.675G>A (p.Lys225=) c.357G>A (p.Lys119=) | gnomAD v4 |
| 10 | g.122489524G>C | CA378581176 | HTRA1 | c.675G>C (p.Lys225Asn) c.357G>C (p.Lys119Asn) | |
| 10 | g.122489524G>T | CA378581178 | HTRA1 | c.675G>T (p.Lys225Asn) c.357G>T (p.Lys119Asn) | |
| 10 | g.122489525C>A | CA378581184 | HTRA1 | c.676C>A (p.His226Asn) c.358C>A (p.His120Asn) | |
| 10 | g.122489525C>G | CA378581180 | HTRA1 | c.676C>G (p.His226Asp) c.358C>G (p.His120Asp) | |
| 10 | g.122489525C>T | CA378581182 | HTRA1 | c.676C>T (p.His226Tyr) c.358C>T (p.His120Tyr) | |
| 10 | g.122489526A>C | CA378581186 | HTRA1 | c.677A>C (p.His226Pro) c.359A>C (p.His120Pro) | |
| 10 | g.122489526A>G | CA378581187 | HTRA1 | c.677A>G (p.His226Arg) c.359A>G (p.His120Arg) | |
| 10 | g.122489526A>T | CA378581189 | HTRA1 | c.677A>T (p.His226Leu) c.359A>T (p.His120Leu) | |
| 10 | g.122489527C>A | CA378581192 | HTRA1 | c.678C>A (p.His226Gln) c.360C>A (p.His120Gln) | |
| 10 | g.122489527C>G | CA378581194 | HTRA1 | c.678C>G (p.His226Gln) c.360C>G (p.His120Gln) | |
| 10 | g.122489527C>T | CA471664470 | HTRA1 | c.678C>T (p.His226=) c.360C>T (p.His120=) | |
| 10 | g.122489528C>A | CA471664472 | HTRA1 | c.679C>A (p.Arg227=) c.361C>A (p.Arg121=) | |
| 10 | g.122489528C= | CA1941464811 | HTRA1 | c.679C= (p.Arg227=) c.361C= (p.Arg121=) | |
| 10 | g.122489528C>G | CA378581196 | HTRA1 | c.679C>G (p.Arg227Gly) c.361C>G (p.Arg121Gly) | |
| 10 | g.122489528C>T | CA5725893 | HTRA1 | c.679C>T (p.Arg227Trp) c.361C>T (p.Arg121Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489529G>A | CA5725894 | HTRA1 | c.680G>A (p.Arg227Gln) c.362G>A (p.Arg121Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122489529G>C | CA378581199 | HTRA1 | c.680G>C (p.Arg227Pro) c.362G>C (p.Arg121Pro) | |
| 10 | g.122489529G= | CA1941464817 | HTRA1 | c.680G= (p.Arg227=) c.362G= (p.Arg121=) | |
| 10 | g.122489529G>T | CA378581201 | HTRA1 | c.680G>T (p.Arg227Leu) c.362G>T (p.Arg121Leu) | |
| 10 | g.122489530G>A | CA5725895 | HTRA1 | c.681G>A (p.Arg227=) c.363G>A (p.Arg121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489530G>C | CA471664478 | HTRA1 | c.681G>C (p.Arg227=) c.363G>C (p.Arg121=) | |
| 10 | g.122489530G= | CA1941464822 | HTRA1 | c.681G= (p.Arg227=) c.363G= (p.Arg121=) | |
| 10 | g.122489530G>T | CA471664480 | HTRA1 | c.681G>T (p.Arg227=) c.363G>T (p.Arg121=) | |
| 10 | g.122489531G>A | CA378581208 | HTRA1 | c.682G>A (p.Val228Ile) c.364G>A (p.Val122Ile) | |
| 10 | g.122489531G>C | CA378581206 | HTRA1 | c.682G>C (p.Val228Leu) c.364G>C (p.Val122Leu) | |
| 10 | g.122489531G>T | CA378581204 | HTRA1 | c.682G>T (p.Val228Phe) c.364G>T (p.Val122Phe) | |
| 10 | g.122489532T>A | CA378581210 | HTRA1 | c.683T>A (p.Val228Asp) c.365T>A (p.Val122Asp) | |
| 10 | g.122489532T>C | CA378581214 | HTRA1 | c.683T>C (p.Val228Ala) c.365T>C (p.Val122Ala) | |
| 10 | g.122489532T>G | CA378581212 | HTRA1 | c.683T>G (p.Val228Gly) c.365T>G (p.Val122Gly) | |
| 10 | g.122489533C>A | CA471664486 | HTRA1 | c.684C>A (p.Val228=) c.366C>A (p.Val122=) | |
| 10 | g.122489533C>G | CA471664488 | HTRA1 | c.684C>G (p.Val228=) c.366C>G (p.Val122=) | |
| 10 | g.122489533C>T | CA471664489 | HTRA1 | c.684C>T (p.Val228=) c.366C>T (p.Val122=) | |
| 10 | g.122489534A>C | CA378581216 | HTRA1 | c.685A>C (p.Lys229Gln) c.367A>C (p.Lys123Gln) | |
| 10 | g.122489534A>G | CA378581220 | HTRA1 | c.685A>G (p.Lys229Glu) c.367A>G (p.Lys123Glu) | |
| 10 | g.122489534A>T | CA378581218 | HTRA1 | c.685A>T (p.Lys229Ter) c.367A>T (p.Lys123Ter) | |
| 10 | g.122489535A>C | CA378581222 | HTRA1 | c.686A>C (p.Lys229Thr) c.368A>C (p.Lys123Thr) | |
| 10 | g.122489535A>G | CA378581226 | HTRA1 | c.686A>G (p.Lys229Arg) c.368A>G (p.Lys123Arg) | |
| 10 | g.122489535A>T | CA378581224 | HTRA1 | c.686A>T (p.Lys229Ile) c.368A>T (p.Lys123Ile) | |
| 10 | g.122489536A>C | CA378581228 | HTRA1 | c.687A>C (p.Lys229Asn) c.369A>C (p.Lys123Asn) | |
| 10 | g.122489536A>G | CA471664496 | HTRA1 | c.687A>G (p.Lys229=) c.369A>G (p.Lys123=) | |
| 10 | g.122489536A>T | CA378581229 | HTRA1 | c.687A>T (p.Lys229Asn) c.369A>T (p.Lys123Asn) | |
| 10 | g.122489537G>A | CA378581232 | HTRA1 | c.688G>A (p.Val230Ile) c.370G>A (p.Val124Ile) | |
| 10 | g.122489537G>C | CA378581234 | HTRA1 | c.688G>C (p.Val230Leu) c.370G>C (p.Val124Leu) | |
| 10 | g.122489537G>T | CA378581236 | HTRA1 | c.688G>T (p.Val230Phe) c.370G>T (p.Val124Phe) | |
| 10 | g.122489538T>A | CA378581238 | HTRA1 | c.689T>A (p.Val230Asp) c.371T>A (p.Val124Asp) | |
| 10 | g.122489538T>C | CA378581240 | HTRA1 | c.689T>C (p.Val230Ala) c.371T>C (p.Val124Ala) | dbSNP gnomAD v4 |
| 10 | g.122489538T>G | CA378581242 | HTRA1 | c.689T>G (p.Val230Gly) c.371T>G (p.Val124Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.122489538T= | CA1941464825 | HTRA1 | c.689T= (p.Val230=) c.371T= (p.Val124=) | |
| 10 | g.122489539T>A | CA471664505 | HTRA1 | c.690T>A (p.Val230=) c.372T>A (p.Val124=) | |
| 10 | g.122489539T>C | CA471664502 | HTRA1 | c.690T>C (p.Val230=) c.372T>C (p.Val124=) | |
| 10 | g.122489539T>G | CA471664504 | HTRA1 | c.690T>G (p.Val230=) c.372T>G (p.Val124=) | gnomAD v4 |
| 10 | g.122489540G>A | CA378581244 | HTRA1 | c.691G>A (p.Glu231Lys) c.373G>A (p.Glu125Lys) | ClinVar gnomAD v4 |
| 10 | g.122489540G>C | CA378581246 | HTRA1 | c.691G>C (p.Glu231Gln) c.373G>C (p.Glu125Gln) | |
| 10 | g.122489540G>T | CA378581248 | HTRA1 | c.691G>T (p.Glu231Ter) c.373G>T (p.Glu125Ter) | |
| 10 | g.122489541A>C | CA378581250 | HTRA1 | c.692A>C (p.Glu231Ala) c.374A>C (p.Glu125Ala) | |
| 10 | g.122489541A>G | CA378581252 | HTRA1 | c.692A>G (p.Glu231Gly) c.374A>G (p.Glu125Gly) | gnomAD v4 |
| 10 | g.122489541A>T | CA378581254 | HTRA1 | c.692A>T (p.Glu231Val) c.374A>T (p.Glu125Val) | |
| 10 | g.122489542G>A | CA471664511 | HTRA1 | c.693G>A (p.Glu231=) c.375G>A (p.Glu125=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489542G>C | CA378581259 | HTRA1 | c.693G>C (p.Glu231Asp) c.375G>C (p.Glu125Asp) | |
| 10 | g.122489542G= | CA1941464830 | HTRA1 | c.693G= (p.Glu231=) c.375G= (p.Glu125=) | |
| 10 | g.122489542G>T | CA378581256 | HTRA1 | c.693G>T (p.Glu231Asp) c.375G>T (p.Glu125Asp) | |
| 10 | g.122489543C>A | CA378581261 | HTRA1 | c.694C>A (p.Leu232Met) c.376C>A (p.Leu126Met) | |
| 10 | g.122489543C>G | CA378581263 | HTRA1 | c.694C>G (p.Leu232Val) c.376C>G (p.Leu126Val) | |
| 10 | g.122489543C>T | CA471664513 | HTRA1 | c.694C>T (p.Leu232=) c.376C>T (p.Leu126=) | |
| 10 | g.122489544T>A | CA378581266 | HTRA1 | c.695T>A (p.Leu232Gln) c.377T>A (p.Leu126Gln) | |
| 10 | g.122489544T>C | CA378581268 | HTRA1 | c.695T>C (p.Leu232Pro) c.377T>C (p.Leu126Pro) | |
| 10 | g.122489544T>G | CA378581274 | HTRA1 | c.695T>G (p.Leu232Arg) c.377T>G (p.Leu126Arg) | |
| 10 | g.122489545G>A | CA471664520 | HTRA1 | c.696G>A (p.Leu232=) c.378G>A (p.Leu126=) | gnomAD v4 |
| 10 | g.122489545G>C | CA5725896 | HTRA1 | c.696G>C (p.Leu232=) c.378G>C (p.Leu126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489545G= | CA1941464832 | HTRA1 | c.696G= (p.Leu232=) c.378G= (p.Leu126=) | |
| 10 | g.122489545G>T | CA471664518 | HTRA1 | c.696G>T (p.Leu232=) c.378G>T (p.Leu126=) | |
| 10 | g.122489546A= | CA1941464835 | HTRA1 | c.697A= (p.Lys233=) c.379A= (p.Lys127=) | |
| 10 | g.122489546A>C | CA378581278 | HTRA1 | c.697A>C (p.Lys233Gln) c.379A>C (p.Lys127Gln) | gnomAD v4 |
| 10 | g.122489546A>G | CA378581279 | HTRA1 | c.697A>G (p.Lys233Glu) c.379A>G (p.Lys127Glu) | dbSNP |
| 10 | g.122489546A>T | CA378581282 | HTRA1 | c.697A>T (p.Lys233Ter) c.379A>T (p.Lys127Ter) | |
| 10 | g.122489547A>C | CA378581284 | HTRA1 | c.698A>C (p.Lys233Thr) c.380A>C (p.Lys127Thr) | |
| 10 | g.122489547A>G | CA378581286 | HTRA1 | c.698A>G (p.Lys233Arg) c.380A>G (p.Lys127Arg) | |
| 10 | g.122489547A>T | CA378581289 | HTRA1 | c.698A>T (p.Lys233Met) c.380A>T (p.Lys127Met) | |
| 10 | g.122489548G>A | CA471664527 | HTRA1 | c.699G>A (p.Lys233=) c.381G>A (p.Lys127=) | |
| 10 | g.122489548G>C | CA378581293 | HTRA1 | c.699G>C (p.Lys233Asn) c.381G>C (p.Lys127Asn) | |
| 10 | g.122489548G>T | CA378581291 | HTRA1 | c.699G>T (p.Lys233Asn) c.381G>T (p.Lys127Asn) | |
| 10 | g.122489549A>C | CA378581295 | HTRA1 | c.700A>C (p.Asn234His) c.382A>C (p.Asn128His) | |
| 10 | g.122489549A>G | CA378581297 | HTRA1 | c.700A>G (p.Asn234Asp) c.382A>G (p.Asn128Asp) | |
| 10 | g.122489549A>T | CA378581299 | HTRA1 | c.700A>T (p.Asn234Tyr) c.382A>T (p.Asn128Tyr) | |
| 10 | g.122489550A= | CA1941464838 | HTRA1 | c.701A= (p.Asn234=) c.383A= (p.Asn128=) | |
| 10 | g.122489550A>C | CA378581301 | HTRA1 | c.701A>C (p.Asn234Thr) c.383A>C (p.Asn128Thr) | |
| 10 | g.122489550A>G | CA378581303 | HTRA1 | c.701A>G (p.Asn234Ser) c.383A>G (p.Asn128Ser) | dbSNP |
| 10 | g.122489550A>T | CA378581307 | HTRA1 | c.701A>T (p.Asn234Ile) c.383A>T (p.Asn128Ile) | |
| 10 | g.122489551C>A | CA378581310 | HTRA1 | c.702C>A (p.Asn234Lys) c.384C>A (p.Asn128Lys) | |
| 10 | g.122489551C= | CA1941464840 | HTRA1 | c.702C= (p.Asn234=) c.384C= (p.Asn128=) | |
| 10 | g.122489551C>G | CA378581312 | HTRA1 | c.702C>G (p.Asn234Lys) c.384C>G (p.Asn128Lys) | dbSNP |
| 10 | g.122489551C>T | CA5725897 | HTRA1 | c.702C>T (p.Asn234=) c.384C>T (p.Asn128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489552G>A | CA378581315 | HTRA1 | c.703G>A (p.Gly235Ser) c.385G>A (p.Gly129Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489552G>C | CA378581317 | HTRA1 | c.703G>C (p.Gly235Arg) c.385G>C (p.Gly129Arg) | |
| 10 | g.122489552G= | CA1941464843 | HTRA1 | c.703G= (p.Gly235=) c.385G= (p.Gly129=) | |
| 10 | g.122489552G>T | CA378581318 | HTRA1 | c.703G>T (p.Gly235Cys) c.385G>T (p.Gly129Cys) | |
| 10 | g.122489553G>A | CA378581325 | HTRA1 | c.704G>A (p.Gly235Asp) c.386G>A (p.Gly129Asp) | |
| 10 | g.122489553G>C | CA378581323 | HTRA1 | c.704G>C (p.Gly235Ala) c.386G>C (p.Gly129Ala) | |
| 10 | g.122489553G= | CA1941464846 | HTRA1 | c.704G= (p.Gly235=) c.386G= (p.Gly129=) | |
| 10 | g.122489553G>T | CA378581321 | HTRA1 | c.704G>T (p.Gly235Val) c.386G>T (p.Gly129Val) | dbSNP |
| 10 | g.122489554T>A | CA471664539 | HTRA1 | c.705T>A (p.Gly235=) c.387T>A (p.Gly129=) | |
| 10 | g.122489554T>C | CA471664540 | HTRA1 | c.705T>C (p.Gly235=) c.387T>C (p.Gly129=) | |
| 10 | g.122489554T>G | CA471664542 | HTRA1 | c.705T>G (p.Gly235=) c.387T>G (p.Gly129=) | |
| 10 | g.122489555del | CA2611241921 | HTRA1 | c.706del (p.Ala236ProfsTer?) c.388del (p.Ala130ProfsTer?) | gnomAD v4 |
| 10 | g.122489555G>A | CA378581327 | HTRA1 | c.706G>A (p.Ala236Thr) c.388G>A (p.Ala130Thr) | gnomAD v4 |
| 10 | g.122489555G>C | CA378581329 | HTRA1 | c.706G>C (p.Ala236Pro) c.388G>C (p.Ala130Pro) | |
| 10 | g.122489555G>T | CA378581331 | HTRA1 | c.706G>T (p.Ala236Ser) c.388G>T (p.Ala130Ser) | |
| 10 | g.122489556C>A | CA378581334 | HTRA1 | c.707C>A (p.Ala236Asp) c.389C>A (p.Ala130Asp) | |
| 10 | g.122489556C>G | CA378581336 | HTRA1 | c.707C>G (p.Ala236Gly) c.389C>G (p.Ala130Gly) | gnomAD v4 |
| 10 | g.122489556C>T | CA378581338 | HTRA1 | c.707C>T (p.Ala236Val) c.389C>T (p.Ala130Val) | |
| 10 | g.122489557C>A | CA471664548 | HTRA1 | c.708C>A (p.Ala236=) c.390C>A (p.Ala130=) | |
| 10 | g.122489557C>G | CA471664549 | HTRA1 | c.708C>G (p.Ala236=) c.390C>G (p.Ala130=) | |
| 10 | g.122489557C>T | CA471664551 | HTRA1 | c.708C>T (p.Ala236=) c.390C>T (p.Ala130=) | |
| 10 | g.122489558A>C | CA378581340 | HTRA1 | c.709A>C (p.Thr237Pro) c.391A>C (p.Thr131Pro) | |
| 10 | g.122489558A>G | CA378581342 | HTRA1 | c.709A>G (p.Thr237Ala) c.391A>G (p.Thr131Ala) | |
| 10 | g.122489558A>T | CA378581343 | HTRA1 | c.709A>T (p.Thr237Ser) c.391A>T (p.Thr131Ser) | |
| 10 | g.122489559C>A | CA378581346 | HTRA1 | c.710C>A (p.Thr237Asn) c.392C>A (p.Thr131Asn) | |
| 10 | g.122489559C= | CA1941464849 | HTRA1 | c.710C= (p.Thr237=) c.392C= (p.Thr131=) | |
| 10 | g.122489559C>G | CA378581348 | HTRA1 | c.710C>G (p.Thr237Ser) c.392C>G (p.Thr131Ser) | |
| 10 | g.122489559C>T | CA5725898 | HTRA1 | c.710C>T (p.Thr237Ile) c.392C>T (p.Thr131Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489560T>A | CA471664557 | HTRA1 | c.711T>A (p.Thr237=) c.393T>A (p.Thr131=) | |
| 10 | g.122489560T>C | CA471664559 | HTRA1 | c.711T>C (p.Thr237=) c.393T>C (p.Thr131=) | |
| 10 | g.122489560T>G | CA471664560 | HTRA1 | c.711T>G (p.Thr237=) c.393T>G (p.Thr131=) | |
| 10 | g.122489561T>A | CA378581355 | HTRA1 | c.712T>A (p.Tyr238Asn) c.394T>A (p.Tyr132Asn) | |
| 10 | g.122489561T>C | CA378581353 | HTRA1 | c.712T>C (p.Tyr238His) c.394T>C (p.Tyr132His) | COSMIC |
| 10 | g.122489561T>G | CA378581351 | HTRA1 | c.712T>G (p.Tyr238Asp) c.394T>G (p.Tyr132Asp) | |
| 10 | g.122489562A= | CA1941464853 | HTRA1 | c.713A= (p.Tyr238=) c.395A= (p.Tyr132=) | |
| 10 | g.122489562A>C | CA378581357 | HTRA1 | c.713A>C (p.Tyr238Ser) c.395A>C (p.Tyr132Ser) | |
| 10 | g.122489562A>G | CA378581360 | HTRA1 | c.713A>G (p.Tyr238Cys) c.395A>G (p.Tyr132Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489562A>T | CA378581359 | HTRA1 | c.713A>T (p.Tyr238Phe) c.395A>T (p.Tyr132Phe) | |
| 10 | g.122489563C>A | CA378581363 | HTRA1 | c.714C>A (p.Tyr238Ter) c.396C>A (p.Tyr132Ter) | |
| 10 | g.122489563C= | CA1941464858 | HTRA1 | c.714C= (p.Tyr238=) c.396C= (p.Tyr132=) | |
| 10 | g.122489563C>G | CA378581365 | HTRA1 | c.714C>G (p.Tyr238Ter) c.396C>G (p.Tyr132Ter) | |
| 10 | g.122489563C>T | CA5725899 | HTRA1 | c.714C>T (p.Tyr238=) c.396C>T (p.Tyr132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122489564G>A | CA214401045 | HTRA1 | c.715G>A (p.Glu239Lys) c.397G>A (p.Glu133Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122489564G>C | CA378581368 | HTRA1 | c.715G>C (p.Glu239Gln) c.397G>C (p.Glu133Gln) | |
| 10 | g.122489564G= | CA1941464862 | HTRA1 | c.715G= (p.Glu239=) c.397G= (p.Glu133=) | |
| 10 | g.122489564G>T | CA378581370 | HTRA1 | c.715G>T (p.Glu239Ter) c.397G>T (p.Glu133Ter) | |
| 10 | g.122489565A>C | CA378581372 | HTRA1 | c.716A>C (p.Glu239Ala) c.398A>C (p.Glu133Ala) | |
| 10 | g.122489565A>G | CA378581374 | HTRA1 | c.716A>G (p.Glu239Gly) c.398A>G (p.Glu133Gly) | |
| 10 | g.122489565A>T | CA378581376 | HTRA1 | c.716A>T (p.Glu239Val) c.398A>T (p.Glu133Val) | |
| 10 | g.122489566A>C | CA378581378 | HTRA1 | c.717A>C (p.Glu239Asp) c.399A>C (p.Glu133Asp) | |
| 10 | g.122489566A>G | CA471664573 | HTRA1 | c.717A>G (p.Glu239=) c.399A>G (p.Glu133=) | |
| 10 | g.122489566A>T | CA378581380 | HTRA1 | c.717A>T (p.Glu239Asp) c.399A>T (p.Glu133Asp) | |
| 10 | g.122489567G>A | CA378581386 | HTRA1 | c.718G>A (p.Ala240Thr) c.400G>A (p.Ala134Thr) | |
| 10 | g.122489567G>C | CA378581384 | HTRA1 | c.718G>C (p.Ala240Pro) c.400G>C (p.Ala134Pro) | |
| 10 | g.122489567G>T | CA378581382 | HTRA1 | c.718G>T (p.Ala240Ser) c.400G>T (p.Ala134Ser) | |
| 10 | g.122489568C>A | CA378581388 | HTRA1 | c.719C>A (p.Ala240Asp) c.401C>A (p.Ala134Asp) | |
| 10 | g.122489568C>G | CA378581390 | HTRA1 | c.719C>G (p.Ala240Gly) c.401C>G (p.Ala134Gly) | |
| 10 | g.122489568C>T | CA378581392 | HTRA1 | c.719C>T (p.Ala240Val) c.401C>T (p.Ala134Val) | |
| 10 | g.122489569C>A | CA471664583 | HTRA1 | c.720C>A (p.Ala240=) c.402C>A (p.Ala134=) | |
| 10 | g.122489569C= | CA1941464865 | HTRA1 | c.720C= (p.Ala240=) c.402C= (p.Ala134=) | |
| 10 | g.122489569C>G | CA471664581 | HTRA1 | c.720C>G (p.Ala240=) c.402C>G (p.Ala134=) | dbSNP |
| 10 | g.122489569C>T | CA471664579 | HTRA1 | c.720C>T (p.Ala240=) c.402C>T (p.Ala134=) | |
| 10 | g.122489570A>C | CA378581394 | HTRA1 | c.721A>C (p.Lys241Gln) c.403A>C (p.Lys135Gln) | gnomAD v4 |
| 10 | g.122489570A>G | CA378581396 | HTRA1 | c.721A>G (p.Lys241Glu) c.403A>G (p.Lys135Glu) | |
| 10 | g.122489570A>T | CA378581398 | HTRA1 | c.721A>T (p.Lys241Ter) c.403A>T (p.Lys135Ter) | |
| 10 | g.122489571A>C | CA378581400 | HTRA1 | c.722A>C (p.Lys241Thr) c.404A>C (p.Lys135Thr) | |
| 10 | g.122489571A>G | CA378581402 | HTRA1 | c.722A>G (p.Lys241Arg) c.404A>G (p.Lys135Arg) | |
| 10 | g.122489571A>T | CA378581404 | HTRA1 | c.722A>T (p.Lys241Ile) c.404A>T (p.Lys135Ile) | |
| 10 | g.122489572A>C | CA378581405 | HTRA1 | c.723A>C (p.Lys241Asn) c.405A>C (p.Lys135Asn) | |
| 10 | g.122489572A>G | CA471664589 | HTRA1 | c.723A>G (p.Lys241=) c.405A>G (p.Lys135=) | |
| 10 | g.122489572A>T | CA378581406 | HTRA1 | c.723A>T (p.Lys241Asn) c.405A>T (p.Lys135Asn) | |
| 10 | g.122489573A>C | CA378581414 | HTRA1 | c.724A>C (p.Ile242Leu) c.406A>C (p.Ile136Leu) | |
| 10 | g.122489573A>G | CA378581411 | HTRA1 | c.724A>G (p.Ile242Val) c.406A>G (p.Ile136Val) | |
| 10 | g.122489573A>T | CA378581409 | HTRA1 | c.724A>T (p.Ile242Phe) c.406A>T (p.Ile136Phe) | |
| 10 | g.122489574T>A | CA378581416 | HTRA1 | c.725T>A (p.Ile242Asn) c.407T>A (p.Ile136Asn) | |
| 10 | g.122489574T>C | CA378581418 | HTRA1 | c.725T>C (p.Ile242Thr) c.407T>C (p.Ile136Thr) | |
| 10 | g.122489574T>G | CA378581419 | HTRA1 | c.725T>G (p.Ile242Ser) c.407T>G (p.Ile136Ser) | |
| 10 | g.122489575del | CA2695212887 | HTRA1 | c.726del (p.Lys243ArgfsTer?) c.408del (p.Lys137ArgfsTer?) | |
| 10 | g.122489575C>A | CA471664596 | HTRA1 | c.726C>A (p.Ile242=) c.408C>A (p.Ile136=) | |
| 10 | g.122489575C>G | CA378581422 | HTRA1 | c.726C>G (p.Ile242Met) c.408C>G (p.Ile136Met) | |
| 10 | g.122489575C>T | CA471664598 | HTRA1 | c.726C>T (p.Ile242=) c.408C>T (p.Ile136=) | |
| 10 | g.122489576A>C | CA378581424 | HTRA1 | c.727A>C (p.Lys243Gln) c.409A>C (p.Lys137Gln) | |
| 10 | g.122489576A>G | CA378581425 | HTRA1 | c.727A>G (p.Lys243Glu) c.409A>G (p.Lys137Glu) | gnomAD v4 |
| 10 | g.122489576A>T | CA378581427 | HTRA1 | c.727A>T (p.Lys243Ter) c.409A>T (p.Lys137Ter) | |
| 10 | g.122489577A= | CA1941464868 | HTRA1 | c.728A= (p.Lys243=) c.410A= (p.Lys137=) | |
| 10 | g.122489577A>C | CA378581429 | HTRA1 | c.728A>C (p.Lys243Thr) c.410A>C (p.Lys137Thr) | |
| 10 | g.122489577A>G | CA5725900 | HTRA1 | c.728A>G (p.Lys243Arg) c.410A>G (p.Lys137Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489577A>T | CA378581431 | HTRA1 | c.728A>T (p.Lys243Met) c.410A>T (p.Lys137Met) | |
| 10 | g.122489578G>A | CA471664604 | HTRA1 | c.729G>A (p.Lys243=) c.411G>A (p.Lys137=) | |
| 10 | g.122489578G>C | CA5725901 | HTRA1 | c.729G>C (p.Lys243Asn) c.411G>C (p.Lys137Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489578G= | CA1941464871 | HTRA1 | c.729G= (p.Lys243=) c.411G= (p.Lys137=) | |
| 10 | g.122489578G>T | CA378581434 | HTRA1 | c.729G>T (p.Lys243Asn) c.411G>T (p.Lys137Asn) | |
| 10 | g.122489579G>A | CA378581440 | HTRA1 | c.730G>A (p.Asp244Asn) c.412G>A (p.Asp138Asn) | |
| 10 | g.122489579G>C | CA378581438 | HTRA1 | c.730G>C (p.Asp244His) c.412G>C (p.Asp138His) | |
| 10 | g.122489579G>T | CA378581436 | HTRA1 | c.730G>T (p.Asp244Tyr) c.412G>T (p.Asp138Tyr) | |
| 10 | g.122489580A>C | CA378581444 | HTRA1 | c.731A>C (p.Asp244Ala) c.413A>C (p.Asp138Ala) | |
| 10 | g.122489580A>G | CA378581445 | HTRA1 | c.731A>G (p.Asp244Gly) c.413A>G (p.Asp138Gly) | |
| 10 | g.122489580A>T | CA378581448 | HTRA1 | c.731A>T (p.Asp244Val) c.413A>T (p.Asp138Val) | gnomAD v4 |
| 10 | g.122489581T>A | CA378581450 | HTRA1 | c.732T>A (p.Asp244Glu) c.414T>A (p.Asp138Glu) | |
| 10 | g.122489581T>C | CA471664612 | HTRA1 | c.732T>C (p.Asp244=) c.414T>C (p.Asp138=) | gnomAD v4 |
| 10 | g.122489581T>G | CA378581451 | HTRA1 | c.732T>G (p.Asp244Glu) c.414T>G (p.Asp138Glu) | |
| 10 | g.122489582G>A | CA378581453 | HTRA1 | c.733G>A (p.Val245Met) c.415G>A (p.Val139Met) | gnomAD v4 |
| 10 | g.122489582G>C | CA378581455 | HTRA1 | c.733G>C (p.Val245Leu) c.415G>C (p.Val139Leu) | |
| 10 | g.122489582G>T | CA378581457 | HTRA1 | c.733G>T (p.Val245Leu) c.415G>T (p.Val139Leu) | |
| 10 | g.122489583T>A | CA378581460 | HTRA1 | c.734T>A (p.Val245Glu) c.416T>A (p.Val139Glu) | |
| 10 | g.122489583T>C | CA378581461 | HTRA1 | c.734T>C (p.Val245Ala) c.416T>C (p.Val139Ala) | |
| 10 | g.122489583T>G | CA378581465 | HTRA1 | c.734T>G (p.Val245Gly) c.416T>G (p.Val139Gly) | |
| 10 | g.122489584G>A | CA5725902 | HTRA1 | c.735G>A (p.Val245=) c.417G>A (p.Val139=) | dbSNP ExAC gnomAD v2 COSMIC |
| 10 | g.122489584G>C | CA471664619 | HTRA1 | c.735G>C (p.Val245=) c.417G>C (p.Val139=) | |
| 10 | g.122489584G= | CA1941464876 | HTRA1 | c.735G= (p.Val245=) c.417G= (p.Val139=) | |
| 10 | g.122489584G>T | CA471664621 | HTRA1 | c.735G>T (p.Val245=) c.417G>T (p.Val139=) | |
| 10 | g.122489585G>A | CA378581475 | HTRA1 | c.736G>A (p.Asp246Asn) c.418G>A (p.Asp140Asn) | gnomAD v4 |
| 10 | g.122489585G>C | CA378581474 | HTRA1 | c.736G>C (p.Asp246His) c.418G>C (p.Asp140His) | |
| 10 | g.122489585G>T | CA378581472 | HTRA1 | c.736G>T (p.Asp246Tyr) c.418G>T (p.Asp140Tyr) | |
| 10 | g.122489586A>C | CA378581478 | HTRA1 | c.737A>C (p.Asp246Ala) c.419A>C (p.Asp140Ala) | |
| 10 | g.122489586A>G | CA378581481 | HTRA1 | c.737A>G (p.Asp246Gly) c.419A>G (p.Asp140Gly) | gnomAD v4 |
| 10 | g.122489586A>T | CA378581480 | HTRA1 | c.737A>T (p.Asp246Val) c.419A>T (p.Asp140Val) | |
| 10 | g.122489587T>A | CA378581483 | HTRA1 | c.738T>A (p.Asp246Glu) c.420T>A (p.Asp140Glu) | |
| 10 | g.122489587T>C | CA471664626 | HTRA1 | c.738T>C (p.Asp246=) c.420T>C (p.Asp140=) | |
| 10 | g.122489587T>G | CA378581485 | HTRA1 | c.738T>G (p.Asp246Glu) c.420T>G (p.Asp140Glu) | |
| 10 | g.122489588del | CA2695212888 | HTRA1 | c.739del (p.Glu247ArgfsTer?) c.421del (p.Glu141ArgfsTer?) | |
| 10 | g.122489588G>A | CA378581486 | HTRA1 | c.739G>A (p.Glu247Lys) c.421G>A (p.Glu141Lys) | |
| 10 | g.122489588G>C | CA378581487 | HTRA1 | c.739G>C (p.Glu247Gln) c.421G>C (p.Glu141Gln) | |
| 10 | g.122489588G= | CA1941464880 | HTRA1 | c.739G= (p.Glu247=) c.421G= (p.Glu141=) | |
| 10 | g.122489588G>T | CA214401060 | HTRA1 | c.739G>T (p.Glu247Ter) c.421G>T (p.Glu141Ter) | dbSNP |
| 10 | g.122489589A>C | CA378581488 | HTRA1 | c.740A>C (p.Glu247Ala) c.422A>C (p.Glu141Ala) | |
| 10 | g.122489589A>G | CA378581489 | HTRA1 | c.740A>G (p.Glu247Gly) c.422A>G (p.Glu141Gly) | gnomAD v4 |
| 10 | g.122489589A>T | CA378581490 | HTRA1 | c.740A>T (p.Glu247Val) c.422A>T (p.Glu141Val) | |
| 10 | g.122489590G>A | CA471664631 | HTRA1 | c.741G>A (p.Glu247=) c.423G>A (p.Glu141=) | gnomAD v4 |
| 10 | g.122489590G>C | CA378581492 | HTRA1 | c.741G>C (p.Glu247Asp) c.423G>C (p.Glu141Asp) | |
| 10 | g.122489590G>T | CA378581493 | HTRA1 | c.741G>T (p.Glu247Asp) c.423G>T (p.Glu141Asp) | |
| 10 | g.122489591A>C | CA378581495 | HTRA1 | c.742A>C (p.Lys248Gln) c.424A>C (p.Lys142Gln) | |
| 10 | g.122489591A>G | CA378581496 | HTRA1 | c.742A>G (p.Lys248Glu) c.424A>G (p.Lys142Glu) | |
| 10 | g.122489591A>T | CA378581498 | HTRA1 | c.742A>T (p.Lys248Ter) c.424A>T (p.Lys142Ter) | |
| 10 | g.122489592A= | CA1941464885 | HTRA1 | c.743A= (p.Lys248=) c.425A= (p.Lys142=) | |
| 10 | g.122489592A>C | CA214401061 | HTRA1 | c.743A>C (p.Lys248Thr) c.425A>C (p.Lys142Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122489592A>G | CA378581499 | HTRA1 | c.743A>G (p.Lys248Arg) c.425A>G (p.Lys142Arg) | ClinVar dbSNP |
| 10 | g.122489592A>T | CA378581502 | HTRA1 | c.743A>T (p.Lys248Ile) c.425A>T (p.Lys142Ile) | |
| 10 | g.122489593A>C | CA378581504 | HTRA1 | c.744A>C (p.Lys248Asn) c.426A>C (p.Lys142Asn) | |
| 10 | g.122489593A>G | CA471664638 | HTRA1 | c.744A>G (p.Lys248=) c.426A>G (p.Lys142=) | COSMIC |
| 10 | g.122489593A>T | CA378581506 | HTRA1 | c.744A>T (p.Lys248Asn) c.426A>T (p.Lys142Asn) | |
| 10 | g.122489594G>A | CA378581508 | HTRA1 | c.745G>A (p.Ala249Thr) c.427G>A (p.Ala143Thr) | gnomAD v4 |
| 10 | g.122489594G>C | CA378581510 | HTRA1 | c.745G>C (p.Ala249Pro) c.427G>C (p.Ala143Pro) | |
| 10 | g.122489594G>T | CA378581511 | HTRA1 | c.745G>T (p.Ala249Ser) c.427G>T (p.Ala143Ser) | |
| 10 | g.122489595C>A | CA378581513 | HTRA1 | c.746C>A (p.Ala249Glu) c.428C>A (p.Ala143Glu) | COSMIC |
| 10 | g.122489595C>G | CA378581515 | HTRA1 | c.746C>G (p.Ala249Gly) c.428C>G (p.Ala143Gly) | |
| 10 | g.122489595C>T | CA378581517 | HTRA1 | c.746C>T (p.Ala249Val) c.428C>T (p.Ala143Val) | |
| 10 | g.122489596A>C | CA471664642 | HTRA1 | c.747A>C (p.Ala249=) c.429A>C (p.Ala143=) | |
| 10 | g.122489596A>G | CA471664643 | HTRA1 | c.747A>G (p.Ala249=) c.429A>G (p.Ala143=) | |
| 10 | g.122489596A>T | CA471664644 | HTRA1 | c.747A>T (p.Ala249=) c.429A>T (p.Ala143=) | |
| 10 | g.122489597G>A | CA378581520 | HTRA1 | c.748G>A (p.Asp250Asn) c.430G>A (p.Asp144Asn) | |
| 10 | g.122489597G>C | CA378581521 | HTRA1 | c.748G>C (p.Asp250His) c.430G>C (p.Asp144His) | |
| 10 | g.122489597G>T | CA378581523 | HTRA1 | c.748G>T (p.Asp250Tyr) c.430G>T (p.Asp144Tyr) | |
| 10 | g.122489598A>C | CA378581527 | HTRA1 | c.749A>C (p.Asp250Ala) c.431A>C (p.Asp144Ala) | |
| 10 | g.122489598A>G | CA378581529 | HTRA1 | c.749A>G (p.Asp250Gly) c.431A>G (p.Asp144Gly) | |
| 10 | g.122489598A>T | CA378581526 | HTRA1 | c.749A>T (p.Asp250Val) c.431A>T (p.Asp144Val) | |
| 10 | g.122489599C>A | CA378581531 | HTRA1 | c.750C>A (p.Asp250Glu) c.432C>A (p.Asp144Glu) | |
| 10 | g.122489599C= | CA1941464889 | HTRA1 | c.750C= (p.Asp250=) c.432C= (p.Asp144=) | |
| 10 | g.122489599C>G | CA378581533 | HTRA1 | c.750C>G (p.Asp250Glu) c.432C>G (p.Asp144Glu) | |
| 10 | g.122489599C>T | CA5725903 | HTRA1 | c.750C>T (p.Asp250=) c.432C>T (p.Asp144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489600A>C | CA378581535 | HTRA1 | c.751A>C (p.Ile251Leu) c.433A>C (p.Ile145Leu) | |
| 10 | g.122489600A>G | CA378581536 | HTRA1 | c.751A>G (p.Ile251Val) c.433A>G (p.Ile145Val) | |
| 10 | g.122489600A>T | CA378581543 | HTRA1 | c.751A>T (p.Ile251Phe) c.433A>T (p.Ile145Phe) | |
| 10 | g.122489601T>A | CA378581555 | HTRA1 | c.752T>A (p.Ile251Asn) c.434T>A (p.Ile145Asn) | |
| 10 | g.122489601T>C | CA378581545 | HTRA1 | c.752T>C (p.Ile251Thr) c.434T>C (p.Ile145Thr) | |
| 10 | g.122489601T>G | CA378581547 | HTRA1 | c.752T>G (p.Ile251Ser) c.434T>G (p.Ile145Ser) | |
| 10 | g.122489602C>A | CA471664658 | HTRA1 | c.753C>A (p.Ile251=) c.435C>A (p.Ile145=) | |
| 10 | g.122489602C= | CA1630848521 | HTRA1 | c.753C= (p.Ile251=) c.435C= (p.Ile145=) | |
| 10 | g.122489602C>G | CA378581557 | HTRA1 | c.753C>G (p.Ile251Met) c.435C>G (p.Ile145Met) | |
| 10 | g.122489602C>T | CA228902 | HTRA1 | c.753C>T (p.Ile251=) c.435C>T (p.Ile145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.122489603G>A | CA340686 | HTRA1 | c.754G>A (p.Ala252Thr) c.436G>A (p.Ala146Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.122489603G>C | CA378581562 | HTRA1 | c.754G>C (p.Ala252Pro) c.436G>C (p.Ala146Pro) | |
| 10 | g.122489603G= | CA1941464896 | HTRA1 | c.754G= (p.Ala252=) c.436G= (p.Ala146=) | |
| 10 | g.122489603G>T | CA378581565 | HTRA1 | c.754G>T (p.Ala252Ser) c.436G>T (p.Ala146Ser) | COSMIC |
| 10 | g.122489604C>A | CA378581567 | HTRA1 | c.755C>A (p.Ala252Glu) c.437C>A (p.Ala146Glu) | |
| 10 | g.122489604C>G | CA378581569 | HTRA1 | c.755C>G (p.Ala252Gly) c.437C>G (p.Ala146Gly) | |
| 10 | g.122489604C>T | CA378581568 | HTRA1 | c.755C>T (p.Ala252Val) c.437C>T (p.Ala146Val) | |
| 10 | g.122489605A>C | CA471664663 | HTRA1 | c.756A>C (p.Ala252=) c.438A>C (p.Ala146=) | |
| 10 | g.122489605A>G | CA471664664 | HTRA1 | c.756A>G (p.Ala252=) c.438A>G (p.Ala146=) | ClinVar |
| 10 | g.122489605A>T | CA471664666 | HTRA1 | c.756A>T (p.Ala252=) c.438A>T (p.Ala146=) |