| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50543855_50543882del | CA2682813272 | DDC | c.201+4_201+31del (n.201+4_201+31del) c.98+4_98+31del | gnomAD v4 |
| 7 | g.50543878_50543882delinsCACTT | CA1706650809 | DDC | c.201+3_201+7delinsAAGTG (n.201+3_201+7delinsAAGTG) c.98+3_98+7delinsAAGTG | |
| 7 | g.50543881_50543884del | CA574695447 | DDC | c.201+3_201+6del (n.201+3_201+6del) c.98+3_98+6del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543883A= | CA1706650817 | DDC | c.201+2T= (n.201+2T=) c.98+2T= | |
| 7 | g.50543883A>C | CA367531216 | DDC | c.201+2T>G (n.201+2T>G) c.98+2T>G | |
| 7 | g.50543883A>G | CA4262469 | DDC | c.201+2T>C (n.201+2T>C) c.98+2T>C | dbSNP ExAC |
| 7 | g.50543883A>T | CA367531219 | DDC | c.201+2T>A (n.201+2T>A) c.98+2T>A | |
| 7 | g.50543884C>A | CA367531223 | DDC | c.201+1G>T (n.201+1G>T) c.98+1G>T | |
| 7 | g.50543884C= | CA1706650820 | DDC | c.201+1G= (n.201+1G=) c.98+1G= | |
| 7 | g.50543884C>G | CA367531226 | DDC | c.201+1G>C (n.201+1G>C) c.98+1G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543884C>T | CA367531228 | DDC | c.201+1G>A (n.201+1G>A) c.98+1G>A | |
| 7 | g.50543887del | CA2682813284 | DDC | c.201+1del c.98+1del | gnomAD v4 |
| 7 | g.50543885C>A | CA454943281 | DDC | c.201G>T (p.Gly67=) c.98G>T | |
| 7 | g.50543885C= | CA1706650822 | DDC | c.201G= (p.Gly67=) c.98G= | |
| 7 | g.50543885C>G | CA454943282 | DDC | c.201G>C (p.Gly67=) c.98G>C | |
| 7 | g.50543885C>T | CA4262470 | DDC | c.201G>A (p.Gly67=) c.98G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543886C>A | CA367531234 | DDC | c.200G>T (p.Gly67Val) c.97G>T | gnomAD v4 |
| 7 | g.50543886C= | CA1706650825 | DDC | c.200G= (p.Gly67=) c.97G= | |
| 7 | g.50543886C>G | CA367531235 | DDC | c.200G>C (p.Gly67Ala) c.97G>C | |
| 7 | g.50543886C>T | CA4262471 | DDC | c.200G>A (p.Gly67Glu) c.97G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543887C>A | CA367531243 | DDC | c.199G>T (p.Gly67Trp) c.96G>T | |
| 7 | g.50543887C= | CA1706650829 | DDC | c.199G= (p.Gly67=) c.96G= | |
| 7 | g.50543887C>G | CA367531244 | DDC | c.199G>C (p.Gly67Arg) c.96G>C | |
| 7 | g.50543887C>T | CA367531248 | DDC | c.199G>A (p.Gly67Arg) c.96G>A | dbSNP |
| 7 | g.50543888A>C | CA454943283 | DDC | c.198T>G (p.Pro66=) c.95T>G | |
| 7 | g.50543888A>G | CA454943285 | DDC | c.198T>C (p.Pro66=) c.95T>C | |
| 7 | g.50543888A>T | CA454943284 | DDC | c.198T>A (p.Pro66=) c.95T>A | |
| 7 | g.50543889G>A | CA367531251 | DDC | c.197C>T (p.Pro66Leu) c.94C>T | |
| 7 | g.50543889G>C | CA367531254 | DDC | c.197C>G (p.Pro66Arg) c.94C>G | dbSNP gnomAD v4 |
| 7 | g.50543889G= | CA1706650831 | DDC | c.197C= (p.Pro66=) c.94C= | |
| 7 | g.50543889G>T | CA367531256 | DDC | c.197C>A (p.Pro66His) c.94C>A | |
| 7 | g.50543890G>A | CA4262472 | DDC | c.196C>T (p.Pro66Ser) c.93C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543890G>C | CA367531262 | DDC | c.196C>G (p.Pro66Ala) c.93C>G | |
| 7 | g.50543890G= | CA1706650833 | DDC | c.196C= (p.Pro66=) c.93C= | |
| 7 | g.50543890G>T | CA367531267 | DDC | c.196C>A (p.Pro66Thr) c.93C>A | |
| 7 | g.50543890_50543891dup | CA2682813285 | DDC | c.195_196dup (p.Pro66ArgfsTer4) c.195_196dup (p.Pro66ArgfsTer21) c.92_93dup c.195_196dup (p.Pro66ArgfsTer15) | gnomAD v4 |
| 7 | g.50543891C>A | CA367531276 | DDC | c.195G>T (p.Met65Ile) c.92G>T | gnomAD v4 |
| 7 | g.50543891C= | CA1706650835 | DDC | c.195G= (p.Met65=) c.92G= | |
| 7 | g.50543891C>G | CA367531273 | DDC | c.195G>C (p.Met65Ile) c.92G>C | |
| 7 | g.50543891C>T | CA367531269 | DDC | c.195G>A (p.Met65Ile) c.92G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543892A= | CA1706650837 | DDC | c.194T= (p.Met65=) c.91T= | |
| 7 | g.50543892A>C | CA367531280 | DDC | c.194T>G (p.Met65Arg) c.91T>G | |
| 7 | g.50543892A>G | CA367531283 | DDC | c.194T>C (p.Met65Thr) c.91T>C | |
| 7 | g.50543892A>T | CA158234562 | DDC | c.194T>A (p.Met65Lys) c.91T>A | dbSNP gnomAD v4 |
| 7 | g.50543892_50543893insGGGACTGAGTCTCAGGGGACCTGGGGGAAAGAGCCTCACTGCCCTTGGATTTGGATTTTAATCC | CA2682813286 | DDC | c.193_194insGGATTAAAATCCAAATCCAAGGGCAGTGAGGCTCTTTCCCCCAGGTCCCCTGAGACTCAGTCCC (p.Met65ArgfsTer10) c.90_91insGGATTAAAATCCAAATCCAAGGGCAGTGAGGCTCTTTCCCCCAGGTCCCCTGAGACTCAGTCCC | gnomAD v4 |
| 7 | g.50543893T>A | CA367531289 | DDC | c.193A>T (p.Met65Leu) c.90A>T | |
| 7 | g.50543893T>C | CA367531293 | DDC | c.193A>G (p.Met65Val) c.90A>G | |
| 7 | g.50543893T>G | CA367531298 | DDC | c.193A>C (p.Met65Leu) c.90A>C | |
| 7 | g.50543894G>A | CA454943286 | DDC | c.192C>T (p.Ile64=) c.89C>T | |
| 7 | g.50543894G>C | CA367531300 | DDC | c.192C>G (p.Ile64Met) c.89C>G | |
| 7 | g.50543894G>T | CA454943287 | DDC | c.192C>A (p.Ile64=) c.89C>A | gnomAD v4 |
| 7 | g.50543895A= | CA1706650843 | DDC | c.191T= (p.Ile64=) c.88T= | |
| 7 | g.50543895A>C | CA367531303 | DDC | c.191T>G (p.Ile64Ser) c.88T>G | |
| 7 | g.50543895A>G | CA367531311 | DDC | c.191T>C (p.Ile64Thr) c.88T>C | dbSNP gnomAD v4 |
| 7 | g.50543895A>T | CA367531307 | DDC | c.191T>A (p.Ile64Asn) c.88T>A | |
| 7 | g.50543896T>A | CA367531314 | DDC | c.190A>T (p.Ile64Phe) c.87A>T | |
| 7 | g.50543896T>C | CA367531318 | DDC | c.190A>G (p.Ile64Val) c.87A>G | dbSNP |
| 7 | g.50543896T>G | CA367531321 | DDC | c.190A>C (p.Ile64Leu) c.87A>C | |
| 7 | g.50543896T= | CA1706650850 | DDC | c.190A= (p.Ile64=) c.87A= | |
| 7 | g.50543897T>A | CA454943289 | DDC | c.189A>T (p.Ile63=) c.86A>T | |
| 7 | g.50543897T>C | CA367531325 | DDC | c.189A>G (p.Ile63Met) c.86A>G | |
| 7 | g.50543897T>G | CA454943288 | DDC | c.189A>C (p.Ile63=) c.86A>C | |
| 7 | g.50543898A>C | CA367531329 | DDC | c.188T>G (p.Ile63Arg) c.85T>G | |
| 7 | g.50543898A>G | CA367531336 | DDC | c.188T>C (p.Ile63Thr) c.85T>C | |
| 7 | g.50543898A>T | CA367531333 | DDC | c.188T>A (p.Ile63Lys) c.85T>A | |
| 7 | g.50543899T>A | CA367531341 | DDC | c.187A>T (p.Ile63Leu) c.84A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50543899T>C | CA4262473 | DDC | c.187A>G (p.Ile63Val) c.84A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543899T>G | CA367531347 | DDC | c.187A>C (p.Ile63Leu) c.84A>C | |
| 7 | g.50543899T= | CA1706653847 | DDC | c.187A= (p.Ile63=) c.84A= | |
| 7 | g.50543900C>A | CA367531349 | DDC | c.186G>T (p.Lys62Asn) c.83G>T | |
| 7 | g.50543900C= | CA1706653848 | DDC | c.186G= (p.Lys62=) c.83G= | |
| 7 | g.50543900C>G | CA4262474 | DDC | c.186G>C (p.Lys62Asn) c.83G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543900C>T | CA454943290 | DDC | c.186G>A (p.Lys62=) c.83G>A | gnomAD v4 |
| 7 | g.50543901T>A | CA367531354 | DDC | c.185A>T (p.Lys62Met) c.82A>T | |
| 7 | g.50543901T>C | CA367531356 | DDC | c.185A>G (p.Lys62Arg) c.82A>G | |
| 7 | g.50543901T>G | CA367531364 | DDC | c.185A>C (p.Lys62Thr) c.82A>C | |
| 7 | g.50543902T>A | CA367531372 | DDC | c.184A>T (p.Lys62Ter) c.81A>T | |
| 7 | g.50543902T>C | CA367531376 | DDC | c.184A>G (p.Lys62Glu) c.81A>G | |
| 7 | g.50543902T>G | CA367531378 | DDC | c.184A>C (p.Lys62Gln) c.81A>C | |
| 7 | g.50543903C>A | CA4262475 | DDC | c.183G>T (p.Glu61Asp) c.80G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543903C= | CA1706653849 | DDC | c.183G= (p.Glu61=) c.80G= | |
| 7 | g.50543903C>G | CA367531381 | DDC | c.183G>C (p.Glu61Asp) c.80G>C | |
| 7 | g.50543903C>T | CA454943291 | DDC | c.183G>A (p.Glu61=) c.80G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50543904T>A | CA367531382 | DDC | c.182A>T (p.Glu61Val) c.79A>T | gnomAD v4 |
| 7 | g.50543904T>C | CA367531383 | DDC | c.182A>G (p.Glu61Gly) c.79A>G | |
| 7 | g.50543904T>G | CA367531385 | DDC | c.182A>C (p.Glu61Ala) c.79A>C | |
| 7 | g.50543905C>A | CA367531387 | DDC | c.181G>T (p.Glu61Ter) c.78G>T | |
| 7 | g.50543905C>G | CA367531402 | DDC | c.181G>C (p.Glu61Gln) c.78G>C | |
| 7 | g.50543905C>T | CA367531405 | DDC | c.181G>A (p.Glu61Lys) c.78G>A | |
| 7 | g.50543906A>C | CA454943293 | DDC | c.180T>G (p.Val60=) c.77T>G | gnomAD v4 |
| 7 | g.50543906A>G | CA454943294 | DDC | c.180T>C (p.Val60=) c.77T>C | ClinVar dbSNP |
| 7 | g.50543906A>T | CA454943295 | DDC | c.180T>A (p.Val60=) c.77T>A | |
| 7 | g.50543907A= | CA1706653850 | DDC | c.179T= (p.Val60=) c.76T= | |
| 7 | g.50543907A>C | CA367531415 | DDC | c.179T>G (p.Val60Gly) c.76T>G | |
| 7 | g.50543907A>G | CA4262476 | DDC | c.179T>C (p.Val60Ala) c.76T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543907A>T | CA367531412 | DDC | c.179T>A (p.Val60Asp) c.76T>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50543908C>A | CA367531419 | DDC | c.178G>T (p.Val60Phe) c.75G>T | |
| 7 | g.50543908C= | CA1706653851 | DDC | c.178G= (p.Val60=) c.75G= | |
| 7 | g.50543908C>G | CA367531422 | DDC | c.178G>C (p.Val60Leu) c.75G>C | |
| 7 | g.50543908C>T | CA4262477 | DDC | c.178G>A (p.Val60Ile) c.75G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543909G>A | CA4262478 | DDC | c.177C>T (p.Asp59=) c.74C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543909G>C | CA367531440 | DDC | c.177C>G (p.Asp59Glu) c.74C>G | |
| 7 | g.50543909G= | CA1706653852 | DDC | c.177C= (p.Asp59=) c.74C= | |
| 7 | g.50543909G>T | CA367531452 | DDC | c.177C>A (p.Asp59Glu) c.74C>A | COSMIC COSMIC |
| 7 | g.50543910T>A | CA367531457 | DDC | c.176A>T (p.Asp59Val) c.73A>T | |
| 7 | g.50543910T>C | CA367531455 | DDC | c.176A>G (p.Asp59Gly) c.73A>G | |
| 7 | g.50543910T>G | CA367531456 | DDC | c.176A>C (p.Asp59Ala) c.73A>C | |
| 7 | g.50543911C>A | CA367531458 | DDC | c.175G>T (p.Asp59Tyr) c.72G>T | ClinVar |
| 7 | g.50543911C= | CA1706653853 | DDC | c.175G= (p.Asp59=) c.72G= | |
| 7 | g.50543911C>G | CA367531461 | DDC | c.175G>C (p.Asp59His) c.72G>C | ClinVar dbSNP |
| 7 | g.50543911C>T | CA158234563 | DDC | c.175G>A (p.Asp59Asn) c.72G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.50543912G>A | CA4262479 | DDC | c.174C>T (p.Asn58=) c.71C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50543912G>C | CA4262480 | DDC | c.174C>G (p.Asn58Lys) c.71C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543912G= | CA1706653854 | DDC | c.174C= (p.Asn58=) c.71C= | |
| 7 | g.50543912G>T | CA367531473 | DDC | c.174C>A (p.Asn58Lys) c.71C>A | dbSNP gnomAD v4 |
| 7 | g.50543913T>A | CA367531476 | DDC | c.173A>T (p.Asn58Ile) c.70A>T | |
| 7 | g.50543913T>C | CA367531479 | DDC | c.173A>G (p.Asn58Ser) c.70A>G | |
| 7 | g.50543913T>G | CA367531481 | DDC | c.173A>C (p.Asn58Thr) c.70A>C | |
| 7 | g.50543914T>A | CA367531486 | DDC | c.172A>T (p.Asn58Tyr) c.69A>T | |
| 7 | g.50543914T>C | CA367531489 | DDC | c.172A>G (p.Asn58Asp) c.69A>G | |
| 7 | g.50543914T>G | CA367531491 | DDC | c.172A>C (p.Asn58His) c.69A>C | |
| 7 | g.50543919_50543921del | CA2682813287 | DDC | c.170_172del (p.Ile57del) c.67_69del | gnomAD v4 |
| 7 | g.50543915G>A | CA454943296 | DDC | c.171C>T (p.Ile57=) c.68C>T | COSMIC COSMIC |
| 7 | g.50543915G>C | CA367531493 | DDC | c.171C>G (p.Ile57Met) c.68C>G | |
| 7 | g.50543915G= | CA1706653855 | DDC | c.171C= (p.Ile57=) c.68C= | |
| 7 | g.50543915G>T | CA454943297 | DDC | c.171C>A (p.Ile57=) c.68C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50543916A>C | CA367531496 | DDC | c.170T>G (p.Ile57Ser) c.67T>G | |
| 7 | g.50543916A>G | CA367531499 | DDC | c.170T>C (p.Ile57Thr) c.67T>C | gnomAD v4 |
| 7 | g.50543916A>T | CA367531497 | DDC | c.170T>A (p.Ile57Asn) c.67T>A | |
| 7 | g.50543917T>A | CA367531502 | DDC | c.169A>T (p.Ile57Phe) c.66A>T | |
| 7 | g.50543917T>C | CA367531503 | DDC | c.169A>G (p.Ile57Val) c.66A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.50543917T>G | CA367531512 | DDC | c.169A>C (p.Ile57Leu) c.66A>C | |
| 7 | g.50543918G>A | CA454943298 | DDC | c.168C>T (p.Ile56=) c.65C>T | ClinVar dbSNP |
| 7 | g.50543918G>C | CA367531515 | DDC | c.168C>G (p.Ile56Met) c.65C>G | |
| 7 | g.50543918G= | CA1706653856 | DDC | c.168C= (p.Ile56=) c.65C= | |
| 7 | g.50543918G>T | CA454943299 | DDC | c.168C>A (p.Ile56=) c.65C>A | |
| 7 | g.50543919A>C | CA367531518 | DDC | c.167T>G (p.Ile56Ser) c.64T>G | |
| 7 | g.50543919A>G | CA367531525 | DDC | c.167T>C (p.Ile56Thr) c.64T>C | |
| 7 | g.50543919A>T | CA367531528 | DDC | c.167T>A (p.Ile56Asn) c.64T>A | COSMIC |
| 7 | g.50543920T>A | CA367531534 | DDC | c.166A>T (p.Ile56Phe) c.63A>T | |
| 7 | g.50543920T>C | CA367531536 | DDC | c.166A>G (p.Ile56Val) c.63A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50543920T>G | CA367531537 | DDC | c.166A>C (p.Ile56Leu) c.63A>C | |
| 7 | g.50543920T= | CA1706653857 | DDC | c.166A= (p.Ile56=) c.63A= | |
| 7 | g.50543921G>A | CA454943300 | DDC | c.165C>T (p.Asp55=) c.62C>T | ClinVar |
| 7 | g.50543921G>C | CA367531539 | DDC | c.165C>G (p.Asp55Glu) c.62C>G | |
| 7 | g.50543921G>T | CA367531541 | DDC | c.165C>A (p.Asp55Glu) c.62C>A | |
| 7 | g.50543922T>A | CA367531548 | DDC | c.164A>T (p.Asp55Val) c.61A>T | |
| 7 | g.50543922T>C | CA367531551 | DDC | c.164A>G (p.Asp55Gly) c.61A>G | |
| 7 | g.50543922T>G | CA367531545 | DDC | c.164A>C (p.Asp55Ala) c.61A>C | |
| 7 | g.50543923C>A | CA367531554 | DDC | c.163G>T (p.Asp55Tyr) c.60G>T | |
| 7 | g.50543923C>G | CA367531555 | DDC | c.163G>C (p.Asp55His) c.60G>C | |
| 7 | g.50543923C>T | CA367531556 | DDC | c.163G>A (p.Asp55Asn) c.60G>A | gnomAD v4 |
| 7 | g.50543924C>A | CA367531557 | DDC | c.162G>T (p.Glu54Asp) c.59G>T | |
| 7 | g.50543924C= | CA1706653858 | DDC | c.162G= (p.Glu54=) c.59G= | |
| 7 | g.50543924C>G | CA367531560 | DDC | c.162G>C (p.Glu54Asp) c.59G>C | |
| 7 | g.50543924C>T | CA454943303 | DDC | c.162G>A (p.Glu54=) c.59G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50543925T>A | CA367531581 | DDC | c.161A>T (p.Glu54Val) c.58A>T | |
| 7 | g.50543925T>C | CA367531563 | DDC | c.161A>G (p.Glu54Gly) c.58A>G | |
| 7 | g.50543925T>G | CA367531568 | DDC | c.161A>C (p.Glu54Ala) c.58A>C | |
| 7 | g.50543926C>A | CA367531583 | DDC | c.160G>T (p.Glu54Ter) c.57G>T | |
| 7 | g.50543926C= | CA1706653859 | DDC | c.160G= (p.Glu54=) c.57G= | |
| 7 | g.50543926C>G | CA367531586 | DDC | c.160G>C (p.Glu54Gln) c.57G>C | |
| 7 | g.50543926C>T | CA4262481 | DDC | c.160G>A (p.Glu54Lys) c.57G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543927A>C | CA367531595 | DDC | c.159T>G (p.Phe53Leu) c.56T>G | |
| 7 | g.50543927A>G | CA454943304 | DDC | c.159T>C (p.Phe53=) c.56T>C | |
| 7 | g.50543927A>T | CA367531598 | DDC | c.159T>A (p.Phe53Leu) c.56T>A | |
| 7 | g.50543928A>C | CA367531601 | DDC | c.158T>G (p.Phe53Cys) c.55T>G | |
| 7 | g.50543928A>G | CA367531608 | DDC | c.158T>C (p.Phe53Ser) c.55T>C | |
| 7 | g.50543928A>T | CA367531604 | DDC | c.158T>A (p.Phe53Tyr) c.55T>A | |
| 7 | g.50543929A>C | CA367531611 | DDC | c.157T>G (p.Phe53Val) c.54T>G | |
| 7 | g.50543929A>G | CA367531613 | DDC | c.157T>C (p.Phe53Leu) c.54T>C | |
| 7 | g.50543929A>T | CA367531612 | DDC | c.157T>A (p.Phe53Ile) c.54T>A | |
| 7 | g.50543930C>A | CA454943305 | DDC | c.156G>T (p.Thr52=) c.53G>T | gnomAD v4 |
| 7 | g.50543930C= | CA1706653860 | DDC | c.156G= (p.Thr52=) c.53G= | |
| 7 | g.50543930C>G | CA454943306 | DDC | c.156G>C (p.Thr52=) c.53G>C | |
| 7 | g.50543930C>T | CA4262482 | DDC | c.156G>A (p.Thr52=) c.53G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543931G>A | CA4262483 | DDC | c.155C>T (p.Thr52Met) c.52C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50543931G>C | CA367531621 | DDC | c.155C>G (p.Thr52Arg) c.52C>G | |
| 7 | g.50543931G= | CA1706653861 | DDC | c.155C= (p.Thr52=) c.52C= | |
| 7 | g.50543931G>T | CA367531624 | DDC | c.155C>A (p.Thr52Lys) c.52C>A | |
| 7 | g.50543932T>A | CA367531628 | DDC | c.154A>T (p.Thr52Ser) c.51A>T | |
| 7 | g.50543932T>C | CA367531629 | DDC | c.154A>G (p.Thr52Ala) c.51A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50543932T>G | CA367531630 | DDC | c.154A>C (p.Thr52Pro) c.51A>C | |
| 7 | g.50543932T= | CA1706653862 | DDC | c.154A= (p.Thr52=) c.51A= | |
| 7 | g.50543933G>A | CA4262484 | DDC | c.153C>T (p.Asp51=) c.50C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543933G>C | CA367531633 | DDC | c.153C>G (p.Asp51Glu) c.50C>G | |
| 7 | g.50543933G= | CA1706653863 | DDC | c.153C= (p.Asp51=) c.50C= | |
| 7 | g.50543933G>T | CA367531635 | DDC | c.153C>A (p.Asp51Glu) c.50C>A | gnomAD v4 |
| 7 | g.50543934T>A | CA4262485 | DDC | c.152A>T (p.Asp51Val) c.49A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543934T>C | CA367531646 | DDC | c.152A>G (p.Asp51Gly) c.49A>G | dbSNP |
| 7 | g.50543934T>G | CA367531653 | DDC | c.152A>C (p.Asp51Ala) c.49A>C | |
| 7 | g.50543934T= | CA1706653864 | DDC | c.152A= (p.Asp51=) c.49A= | |
| 7 | g.50543935C>A | CA367531657 | DDC | c.151G>T (p.Asp51Tyr) c.48G>T | |
| 7 | g.50543935C>G | CA367531663 | DDC | c.151G>C (p.Asp51His) c.48G>C | gnomAD v4 |
| 7 | g.50543935C>T | CA367531660 | DDC | c.151G>A (p.Asp51Asn) c.48G>A | ClinVar dbSNP |
| 7 | g.50543936T>A | CA454943307 | DDC | c.150A>T (p.Pro50=) c.47A>T | |
| 7 | g.50543936T>C | CA454943308 | DDC | c.150A>G (p.Pro50=) c.47A>G | |
| 7 | g.50543936T>G | CA454943310 | DDC | c.150A>C (p.Pro50=) c.47A>C | |
| 7 | g.50543937G>A | CA367531667 | DDC | c.149C>T (p.Pro50Leu) c.46C>T | |
| 7 | g.50543937G>C | CA367531668 | DDC | c.149C>G (p.Pro50Arg) c.46C>G | dbSNP |
| 7 | g.50543937G>T | CA367531669 | DDC | c.149C>A (p.Pro50Gln) c.46C>A | |
| 7 | g.50543938G>A | CA4262486 | DDC | c.148C>T (p.Pro50Ser) c.45C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543938G>C | CA158234564 | DDC | c.148C>G (p.Pro50Ala) c.45C>G | dbSNP |
| 7 | g.50543938G= | CA1706653865 | DDC | c.148C= (p.Pro50=) c.45C= | |
| 7 | g.50543938G>T | CA367531672 | DDC | c.148C>A (p.Pro50Thr) c.45C>A | COSMIC COSMIC |
| 7 | g.50543939C>A | CA367531674 | DDC | c.147G>T (p.Glu49Asp) c.44G>T | |
| 7 | g.50543939C= | CA1706653866 | DDC | c.147G= (p.Glu49=) c.44G= | |
| 7 | g.50543939C>G | CA367531676 | DDC | c.147G>C (p.Glu49Asp) c.44G>C | |
| 7 | g.50543939C>T | CA4262487 | DDC | c.147G>A (p.Glu49=) c.44G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543940T>A | CA367531714 | DDC | c.146A>T (p.Glu49Val) c.43A>T | |
| 7 | g.50543940T>C | CA367531690 | DDC | c.146A>G (p.Glu49Gly) c.43A>G | gnomAD v4 |
| 7 | g.50543940T>G | CA367531681 | DDC | c.146A>C (p.Glu49Ala) c.43A>C | |
| 7 | g.50543941C>A | CA367531729 | DDC | c.145G>T (p.Glu49Ter) c.42G>T | |
| 7 | g.50543941C>G | CA367531737 | DDC | c.145G>C (p.Glu49Gln) c.42G>C | gnomAD v4 |
| 7 | g.50543941C>T | CA367531741 | DDC | c.145G>A (p.Glu49Lys) c.42G>A | gnomAD v4 |
| 7 | g.50543942C>A | CA367531745 | DDC | c.144G>T (p.Gln48His) c.41G>T | |
| 7 | g.50543942C= | CA1706653867 | DDC | c.144G= (p.Gln48=) c.41G= | |
| 7 | g.50543942C>G | CA367531747 | DDC | c.144G>C (p.Gln48His) c.41G>C | |
| 7 | g.50543942C>T | CA454943318 | DDC | c.144G>A (p.Gln48=) c.41G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50543943T>A | CA367531752 | DDC | c.143A>T (p.Gln48Leu) c.40A>T | |
| 7 | g.50543943T>C | CA367531749 | DDC | c.143A>G (p.Gln48Arg) c.40A>G | |
| 7 | g.50543943T>G | CA367531748 | DDC | c.143A>C (p.Gln48Pro) c.40A>C | |
| 7 | g.50543944G>A | CA367531762 | DDC | c.142C>T (p.Gln48Ter) c.39C>T | gnomAD v4 |
| 7 | g.50543944G>C | CA367531765 | DDC | c.142C>G (p.Gln48Glu) c.39C>G | |
| 7 | g.50543944G>T | CA367531769 | DDC | c.142C>A (p.Gln48Lys) c.39C>A | |
| 7 | g.50543945A>C | CA454943319 | DDC | c.141T>G (p.Pro47=) c.38T>G | |
| 7 | g.50543945A>G | CA454943320 | DDC | c.141T>C (p.Pro47=) c.38T>C | |
| 7 | g.50543945A>T | CA454943321 | DDC | c.141T>A (p.Pro47=) c.38T>A | |
| 7 | g.50543946G>A | CA158234565 | DDC | c.140C>T (p.Pro47Leu) c.37C>T | dbSNP |
| 7 | g.50543946G>C | CA367531774 | DDC | c.140C>G (p.Pro47Arg) c.37C>G | |
| 7 | g.50543946G= | CA1706653868 | DDC | c.140C= (p.Pro47=) c.37C= | |
| 7 | g.50543946G>T | CA4262488 | DDC | c.140C>A (p.Pro47His) c.37C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543947G>A | CA367531778 | DDC | c.139C>T (p.Pro47Ser) c.36C>T | COSMIC COSMIC |
| 7 | g.50543947G>C | CA367531782 | DDC | c.139C>G (p.Pro47Ala) c.36C>G | |
| 7 | g.50543947G>T | CA367531779 | DDC | c.139C>A (p.Pro47Thr) c.36C>A | ClinVar |
| 7 | g.50543948G>A | CA454943322 | DDC | c.138C>T (p.Ala46=) c.35C>T | gnomAD v4 |
| 7 | g.50543948G>C | CA454943323 | DDC | c.138C>G (p.Ala46=) c.35C>G | |
| 7 | g.50543948G>T | CA454943325 | DDC | c.138C>A (p.Ala46=) c.35C>A | COSMIC COSMIC |
| 7 | g.50543949G>A | CA158234566 | DDC | c.137C>T (p.Ala46Val) c.34C>T | dbSNP |
| 7 | g.50543949G>C | CA367531785 | DDC | c.137C>G (p.Ala46Gly) c.34C>G | |
| 7 | g.50543949G= | CA1706653869 | DDC | c.137C= (p.Ala46=) c.34C= | |
| 7 | g.50543949G>T | CA367531787 | DDC | c.137C>A (p.Ala46Asp) c.34C>A | |
| 7 | g.50543950C>A | CA367531796 | DDC | c.136G>T (p.Ala46Ser) c.33G>T | |
| 7 | g.50543950C>G | CA367531802 | DDC | c.136G>C (p.Ala46Pro) c.33G>C | |
| 7 | g.50543950C>T | CA367531803 | DDC | c.136G>A (p.Ala46Thr) c.33G>A | |
| 7 | g.50543951A= | CA1706653870 | DDC | c.135T= (p.Ala45=) c.32T= | |
| 7 | g.50543951A>C | CA454943335 | DDC | c.135T>G (p.Ala45=) c.32T>G | |
| 7 | g.50543951A>G | CA4262489 | DDC | c.135T>C (p.Ala45=) c.32T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543951A>T | CA454943332 | DDC | c.135T>A (p.Ala45=) c.32T>A | |
| 7 | g.50543952G>A | CA367531809 | DDC | c.134C>T (p.Ala45Val) c.31C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.50543952G>C | CA367531811 | DDC | c.134C>G (p.Ala45Gly) c.31C>G | |
| 7 | g.50543952G= | CA1706653871 | DDC | c.134C= (p.Ala45=) c.31C= | |
| 7 | g.50543952G>T | CA367531812 | DDC | c.134C>A (p.Ala45Asp) c.31C>A | |
| 7 | g.50543953C>A | CA367531815 | DDC | c.133G>T (p.Ala45Ser) c.30G>T | dbSNP |
| 7 | g.50543953C= | CA1706653872 | DDC | c.133G= (p.Ala45=) c.30G= | |
| 7 | g.50543953C>G | CA367531814 | DDC | c.133G>C (p.Ala45Pro) c.30G>C | |
| 7 | g.50543953C>T | CA4262490 | DDC | c.133G>A (p.Ala45Thr) c.30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543954G>A | CA4262491 | DDC | c.132C>T (p.Ala44=) c.29C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543954G>C | CA454943340 | DDC | c.132C>G (p.Ala44=) c.29C>G | |
| 7 | g.50543954G= | CA1706653873 | DDC | c.132C= (p.Ala44=) c.29C= | |
| 7 | g.50543954G>T | CA454943342 | DDC | c.132C>A (p.Ala44=) c.29C>A | dbSNP gnomAD v4 |
| 7 | g.50543955G>A | CA367531823 | DDC | c.131C>T (p.Ala44Val) c.28C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50543955G>C | CA367531821 | DDC | c.131C>G (p.Ala44Gly) c.28C>G | |
| 7 | g.50543955G= | CA1706653874 | DDC | c.131C= (p.Ala44=) c.28C= | |
| 7 | g.50543955G>T | CA367531825 | DDC | c.131C>A (p.Ala44Asp) c.28C>A | |
| 7 | g.50543956C>A | CA367531830 | DDC | c.130G>T (p.Ala44Ser) c.27G>T | |
| 7 | g.50543956C>G | CA367531833 | DDC | c.130G>C (p.Ala44Pro) c.27G>C | |
| 7 | g.50543956C>T | CA367531832 | DDC | c.130G>A (p.Ala44Thr) c.27G>A | gnomAD v4 |
| 7 | g.50543957A= | CA1706653876 | DDC | c.129T= (p.Pro43=) c.26T= | |
| 7 | g.50543957A>C | CA454943351 | DDC | c.129T>G (p.Pro43=) c.26T>G | |
| 7 | g.50543957A>G | CA454943349 | DDC | c.129T>C (p.Pro43=) c.26T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543957A>T | CA454943350 | DDC | c.129T>A (p.Pro43=) c.26T>A | |
| 7 | g.50543957_50543958delinsAG | CA1706653875 | DDC | c.128_129delinsCT (p.Pro43=) c.25_26delinsCT | |
| 7 | g.50543958G>A | CA367531835 | DDC | c.128C>T (p.Pro43Leu) c.25C>T | COSMIC COSMIC |
| 7 | g.50543958G>C | CA367531839 | DDC | c.128C>G (p.Pro43Arg) c.25C>G | ClinVar dbSNP |
| 7 | g.50543958G= | CA1706653877 | DDC | c.128C= (p.Pro43=) c.25C= | |
| 7 | g.50543958G>T | CA367531843 | DDC | c.128C>A (p.Pro43His) c.25C>A | |
| 7 | g.50543960del | CA4262492 | DDC | c.128del (p.Pro43LeufsTer21) c.25del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543959G>A | CA367531845 | DDC | c.127C>T (p.Pro43Ser) c.24C>T | gnomAD v4 |
| 7 | g.50543959G>C | CA367531846 | DDC | c.127C>G (p.Pro43Ala) c.24C>G | |
| 7 | g.50543959G= | CA1706653878 | DDC | c.127C= (p.Pro43=) c.24C= | |
| 7 | g.50543959G>T | CA367531847 | DDC | c.127C>A (p.Pro43Thr) c.24C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50543960G>A | CA454943356 | DDC | c.126C>T (p.Ile42=) c.23C>T | gnomAD v4 COSMIC COSMIC |
| 7 | g.50543960G>C | CA367531850 | DDC | c.126C>G (p.Ile42Met) c.23C>G | |
| 7 | g.50543960G= | CA1706653879 | DDC | c.126C= (p.Ile42=) c.23C= | |
| 7 | g.50543960G>T | CA158234567 | DDC | c.126C>A (p.Ile42=) c.23C>A | dbSNP gnomAD v4 |
| 7 | g.50543961A>C | CA367531861 | DDC | c.125T>G (p.Ile42Ser) c.22T>G | |
| 7 | g.50543961A>G | CA367531867 | DDC | c.125T>C (p.Ile42Thr) c.22T>C | |
| 7 | g.50543961A>T | CA367531870 | DDC | c.125T>A (p.Ile42Asn) c.22T>A | |
| 7 | g.50543962T>A | CA367531873 | DDC | c.124A>T (p.Ile42Phe) c.21A>T | |
| 7 | g.50543962T>C | CA367531877 | DDC | c.124A>G (p.Ile42Val) c.21A>G | |
| 7 | g.50543962T>G | CA367531875 | DDC | c.124A>C (p.Ile42Leu) c.21A>C | |
| 7 | g.50543963C>A | CA454943364 | DDC | c.123G>T (p.Leu41=) c.20G>T | gnomAD v4 |
| 7 | g.50543963C= | CA1706653880 | DDC | c.123G= (p.Leu41=) c.20G= | |
| 7 | g.50543963C>G | CA454943366 | DDC | c.123G>C (p.Leu41=) c.20G>C | |
| 7 | g.50543963C>T | CA454943367 | DDC | c.123G>A (p.Leu41=) c.20G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.50543964A>C | CA367531880 | DDC | c.122T>G (p.Leu41Arg) c.19T>G | |
| 7 | g.50543964A>G | CA367531882 | DDC | c.122T>C (p.Leu41Pro) c.19T>C | |
| 7 | g.50543964A>T | CA367531884 | DDC | c.122T>A (p.Leu41Gln) c.19T>A | |
| 7 | g.50543965G>A | CA454943372 | DDC | c.121C>T (p.Leu41=) c.18C>T | |
| 7 | g.50543965G>C | CA367531885 | DDC | c.121C>G (p.Leu41Val) c.18C>G | |
| 7 | g.50543965G= | CA1706653881 | DDC | c.121C= (p.Leu41=) c.18C= | |
| 7 | g.50543965G>T | CA4262493 | DDC | c.121C>A (p.Leu41Met) c.18C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543966C>A | CA454943376 | DDC | c.120G>T (p.Pro40=) c.17G>T | |
| 7 | g.50543966C= | CA1706653882 | DDC | c.120G= (p.Pro40=) c.17G= | |
| 7 | g.50543966C>G | CA454943375 | DDC | c.120G>C (p.Pro40=) c.17G>C | gnomAD v4 |
| 7 | g.50543966C>T | CA4262494 | DDC | c.120G>A (p.Pro40=) c.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543967G>A | CA4262495 | DDC | c.119C>T (p.Pro40Leu) c.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543967G>C | CA367531888 | DDC | c.119C>G (p.Pro40Arg) c.16C>G | |
| 7 | g.50543967G= | CA1706653883 | DDC | c.119C= (p.Pro40=) c.16C= | |
| 7 | g.50543967G>T | CA158234568 | DDC | c.119C>A (p.Pro40Gln) c.16C>A | dbSNP |
| 7 | g.50543968G>A | CA367531893 | DDC | c.118C>T (p.Pro40Ser) c.15C>T | |
| 7 | g.50543968G>C | CA367531896 | DDC | c.118C>G (p.Pro40Ala) c.15C>G | |
| 7 | g.50543968G>T | CA367531891 | DDC | c.118C>A (p.Pro40Thr) c.15C>A | |
| 7 | g.50543969C>A | CA454943383 | DDC | c.117G>T (p.Arg39=) c.14G>T | gnomAD v4 |
| 7 | g.50543969C= | CA1706653884 | DDC | c.117G= (p.Arg39=) c.14G= | |
| 7 | g.50543969C>G | CA454943385 | DDC | c.117G>C (p.Arg39=) c.14G>C | |
| 7 | g.50543969C>T | CA454943387 | DDC | c.117G>A (p.Arg39=) c.14G>A | dbSNP |
| 7 | g.50543970C>A | CA367531899 | DDC | c.116G>T (p.Arg39Leu) c.13G>T | |
| 7 | g.50543970C= | CA1706653885 | DDC | c.116G= (p.Arg39=) c.13G= | |
| 7 | g.50543970C>G | CA158234569 | DDC | c.116G>C (p.Arg39Pro) c.13G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543970C>T | CA4262496 | DDC | c.116G>A (p.Arg39Gln) c.13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543971G>A | CA4262498 | DDC | c.115C>T (p.Arg39Trp) c.12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.50543971G>C | CA367531901 | DDC | c.115C>G (p.Arg39Gly) c.12C>G | gnomAD v4 |
| 7 | g.50543971G= | CA1706653886 | DDC | c.115C= (p.Arg39=) c.12C= | |
| 7 | g.50543971G>T | CA4262497 | DDC | c.115C>A (p.Arg39=) c.12C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543972C>A | CA454943396 | DDC | c.114G>T (p.Leu38=) c.11G>T | |
| 7 | g.50543972C>G | CA454943399 | DDC | c.114G>C (p.Leu38=) c.11G>C | |
| 7 | g.50543972C>T | CA454943397 | DDC | c.114G>A (p.Leu38=) c.11G>A | |
| 7 | g.50543973A= | CA1706653887 | DDC | c.113T= (p.Leu38=) c.10T= | |
| 7 | g.50543973A>C | CA367531910 | DDC | c.113T>G (p.Leu38Arg) c.10T>G | |
| 7 | g.50543973A>G | CA367531906 | DDC | c.113T>C (p.Leu38Pro) c.10T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50543973A>T | CA367531907 | DDC | c.113T>A (p.Leu38Gln) c.10T>A | |
| 7 | g.50543974G>A | CA158234570 | DDC | c.112C>T (p.Leu38=) c.9C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50543974G>C | CA367531913 | DDC | c.112C>G (p.Leu38Val) c.9C>G | |
| 7 | g.50543974G= | CA1706653888 | DDC | c.112C= (p.Leu38=) c.9C= | |
| 7 | g.50543974G>T | CA367531914 | DDC | c.112C>A (p.Leu38Met) c.9C>A | |
| 7 | g.50543975del | CA2682813288 | DDC | c.112del (p.Leu38CysfsTer4) c.9del | gnomAD v4 |
| 7 | g.50543975G>A | CA454943406 | DDC | c.111C>T (p.Tyr37=) c.8C>T | gnomAD v4 |
| 7 | g.50543975G>C | CA367531916 | DDC | c.111C>G (p.Tyr37Ter) c.8C>G | |
| 7 | g.50543975G>T | CA367531918 | DDC | c.111C>A (p.Tyr37Ter) c.8C>A | |
| 7 | g.50543976T>A | CA367531920 | DDC | c.110A>T (p.Tyr37Phe) c.7A>T | |
| 7 | g.50543976T>C | CA367531924 | DDC | c.110A>G (p.Tyr37Cys) c.7A>G | |
| 7 | g.50543976T>G | CA367531922 | DDC | c.110A>C (p.Tyr37Ser) c.7A>C | dbSNP |
| 7 | g.50543976T= | CA1706653889 | DDC | c.110A= (p.Tyr37=) c.7A= | |
| 7 | g.50543977A>C | CA367531926 | DDC | c.109T>G (p.Tyr37Asp) c.6T>G | |
| 7 | g.50543977A>G | CA367531928 | DDC | c.109T>C (p.Tyr37His) c.6T>C | |
| 7 | g.50543977A>T | CA367531930 | DDC | c.109T>A (p.Tyr37Asn) c.6T>A | |
| 7 | g.50543978C>A | CA454943415 | DDC | c.108G>T (p.Gly36=) c.5G>T | |
| 7 | g.50543978C= | CA1706653890 | DDC | c.108G= (p.Gly36=) c.5G= | |
| 7 | g.50543978C>G | CA454943418 | DDC | c.108G>C (p.Gly36=) c.5G>C | |
| 7 | g.50543978C>T | CA4262499 | DDC | c.108G>A (p.Gly36=) c.5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50543979C>A | CA367531933 | DDC | c.107G>T (p.Gly36Val) c.4G>T | |
| 7 | g.50543979C>G | CA367531935 | DDC | c.107G>C (p.Gly36Ala) c.4G>C | |
| 7 | g.50543979C>T | CA367531937 | DDC | c.107G>A (p.Gly36Glu) c.4G>A | |
| 7 | g.50543980C>A | CA367531940 | DDC | c.106G>T (p.Gly36Trp) c.3G>T | |
| 7 | g.50543980C= | CA1706653891 | DDC | c.106G= (p.Gly36=) c.3G= | |
| 7 | g.50543980C>G | CA367531941 | DDC | c.106G>C (p.Gly36Arg) c.3G>C | gnomAD v4 |
| 7 | g.50543980C>T | CA4262500 | DDC | c.106G>A (p.Gly36Arg) c.3G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543981G>A | CA4262501 | DDC | c.105C>T (p.Pro35=) c.2C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50543981G>C | CA454943427 | DDC | c.105C>G (p.Pro35=) c.2C>G | ClinVar |
| 7 | g.50543981G= | CA1706653892 | DDC | c.105C= (p.Pro35=) c.2C= | |
| 7 | g.50543981G>T | CA454943429 | DDC | c.105C>A (p.Pro35=) c.2C>A | COSMIC COSMIC |
| 7 | g.50543983del | CA1139771372 | DDC | c.105del (p.Tyr37ThrfsTer5) | |
| 7 | g.50543982G>A | CA367531956 | DDC | c.104C>T (p.Pro35Leu) c.1C>T | |
| 7 | g.50543982G>C | CA367531949 | DDC | c.104C>G (p.Pro35Arg) c.1C>G | |
| 7 | g.50543982G>T | CA367531947 | DDC | c.104C>A (p.Pro35His) c.1C>A |