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 |
|---|---|---|---|---|---|
| 6 | g.24178302C>A | CA566291233 | DCDC2 | c.1326+28G>T (n.1326+28G>T) c.585+28G>T (n.585+28G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178302C= | CA1616325496 | DCDC2 | c.1326+28G= (n.1326+28G=) c.585+28G= (n.585+28G=) | |
| 6 | g.24178302C>T | CA3654458 | DCDC2 | c.1326+28G>A (n.1326+28G>A) c.585+28G>A (n.585+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178304T>C | CA566291234 | DCDC2 | c.1326+26A>G (n.1326+26A>G) c.585+26A>G (n.585+26A>G) | dbSNP gnomAD v2 |
| 6 | g.24178304T= | CA1616325501 | DCDC2 | c.1326+26A= (n.1326+26A=) c.585+26A= (n.585+26A=) | |
| 6 | g.24178306A>G | CA2711291398 | DCDC2 | c.1326+24T>C (n.1326+24T>C) c.585+24T>C (n.585+24T>C) | dbSNP |
| 6 | g.24178308C= | CA1616325504 | DCDC2 | c.1326+22G= (n.1326+22G=) c.585+22G= (n.585+22G=) | |
| 6 | g.24178308C>T | CA823286618 | DCDC2 | c.1326+22G>A (n.1326+22G>A) c.585+22G>A (n.585+22G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178309_24178310insT | CA2677514354 | DCDC2 | c.1326+20_1326+21insA (n.1326+20_1326+21insA) c.585+20_585+21insA (n.585+20_585+21insA) | gnomAD v4 |
| 6 | g.24178310A>C | CA2578541618 | DCDC2 | c.1326+20T>G (n.1326+20T>G) c.585+20T>G (n.585+20T>G) | gnomAD v4 |
| 6 | g.24178311G>A | CA3654459 | DCDC2 | c.1326+19C>T (n.1326+19C>T) c.585+19C>T (n.585+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178311G= | CA1616325507 | DCDC2 | c.1326+19C= (n.1326+19C=) c.585+19C= (n.585+19C=) | |
| 6 | g.24178312C>A | CA566291235 | DCDC2 | c.1326+18G>T (n.1326+18G>T) c.585+18G>T (n.585+18G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178312C= | CA1616325510 | DCDC2 | c.1326+18G= (n.1326+18G=) c.585+18G= (n.585+18G=) | |
| 6 | g.24178312C>G | CA566291236 | DCDC2 | c.1326+18G>C (n.1326+18G>C) c.585+18G>C (n.585+18G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178313A>G | CA2677514355 | DCDC2 | c.1326+17T>C (n.1326+17T>C) c.585+17T>C (n.585+17T>C) | gnomAD v4 |
| 6 | g.24178315A>G | CA2677514356 | DCDC2 | c.1326+15T>C (n.1326+15T>C) c.585+15T>C (n.585+15T>C) | gnomAD v4 |
| 6 | g.24178317del | CA2677514357 | DCDC2 | c.1326+13del (n.1326+13del) c.585+13del (n.585+13del) | gnomAD v4 |
| 6 | g.24178317G>T | CA2677514358 | DCDC2 | c.1326+13C>A (n.1326+13C>A) c.585+13C>A (n.585+13C>A) | gnomAD v4 |
| 6 | g.24178318C>A | CA2677514359 | DCDC2 | c.1326+12G>T (n.1326+12G>T) c.585+12G>T (n.585+12G>T) | gnomAD v4 |
| 6 | g.24178320A= | CA1616325511 | DCDC2 | c.1326+10T= (n.1326+10T=) c.585+10T= (n.585+10T=) | |
| 6 | g.24178320A>G | CA1616325512 | DCDC2 | c.1326+10T>C (n.1326+10T>C) c.585+10T>C (n.585+10T>C) | dbSNP gnomAD v4 |
| 6 | g.24178321T>C | CA3654460 | DCDC2 | c.1326+9A>G (n.1326+9A>G) c.585+9A>G (n.585+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178321T= | CA1616325516 | DCDC2 | c.1326+9A= (n.1326+9A=) c.585+9A= (n.585+9A=) | |
| 6 | g.24178323G>C | CA566291237 | DCDC2 | c.1326+7C>G (n.1326+7C>G) c.585+7C>G (n.585+7C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178323G= | CA1616325520 | DCDC2 | c.1326+7C= (n.1326+7C=) c.585+7C= (n.585+7C=) | |
| 6 | g.24178324A= | CA1616325525 | DCDC2 | c.1326+6T= (n.1326+6T=) c.585+6T= (n.585+6T=) | |
| 6 | g.24178324A>C | CA566291238 | DCDC2 | c.1326+6T>G (n.1326+6T>G) c.585+6T>G (n.585+6T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178324A>G | CA3654461 | DCDC2 | c.1326+6T>C (n.1326+6T>C) c.585+6T>C (n.585+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178325A>G | CA2770321147 | DCDC2 | c.1326+5T>C (n.1326+5T>C) c.585+5T>C (n.585+5T>C) | |
| 6 | g.24178326A>C | CA2677514360 | DCDC2 | c.1326+4T>G (n.1326+4T>G) c.585+4T>G (n.585+4T>G) | gnomAD v4 |
| 6 | g.24178327T>A | CA1616325535 | DCDC2 | c.1326+3A>T (n.1326+3A>T) c.585+3A>T (n.585+3A>T) | dbSNP |
| 6 | g.24178327T>C | CA823286631 | DCDC2 | c.1326+3A>G (n.1326+3A>G) c.585+3A>G (n.585+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178327T= | CA1616325530 | DCDC2 | c.1326+3A= (n.1326+3A=) c.585+3A= (n.585+3A=) | |
| 6 | g.24178328A>C | CA363279579 | DCDC2 | c.1326+2T>G (n.1326+2T>G) c.585+2T>G (n.585+2T>G) | |
| 6 | g.24178328A>G | CA363279578 | DCDC2 | c.1326+2T>C (n.1326+2T>C) c.585+2T>C (n.585+2T>C) | gnomAD v4 |
| 6 | g.24178328A>T | CA363279576 | DCDC2 | c.1326+2T>A (n.1326+2T>A) c.585+2T>A (n.585+2T>A) | |
| 6 | g.24178329C>A | CA363279582 | DCDC2 | c.1326+1G>T (n.1326+1G>T) c.585+1G>T (n.585+1G>T) | gnomAD v4 |
| 6 | g.24178329C= | CA1616325544 | DCDC2 | c.1326+1G= (n.1326+1G=) c.585+1G= (n.585+1G=) | |
| 6 | g.24178329C>G | CA363279586 | DCDC2 | c.1326+1G>C (n.1326+1G>C) c.585+1G>C (n.585+1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178329C>T | CA363279584 | DCDC2 | c.1326+1G>A (n.1326+1G>A) c.585+1G>A (n.585+1G>A) | |
| 6 | g.24178330C>A | CA363279589 | DCDC2 | c.1326G>T (p.Glu442Asp) c.585G>T (p.Glu195Asp) | |
| 6 | g.24178330C= | CA1616325548 | DCDC2 | c.1326G= (p.Glu442=) c.585G= (p.Glu195=) | |
| 6 | g.24178330C>G | CA363279590 | DCDC2 | c.1326G>C (p.Glu442Asp) c.585G>C (p.Glu195Asp) | |
| 6 | g.24178330C>T | CA448963041 | DCDC2 | c.1326G>A (p.Glu442=) c.585G>A (p.Glu195=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178331T>A | CA363279592 | DCDC2 | c.1325A>T (p.Glu442Val) c.584A>T (p.Glu195Val) | |
| 6 | g.24178331T>C | CA363279594 | DCDC2 | c.1325A>G (p.Glu442Gly) c.584A>G (p.Glu195Gly) | |
| 6 | g.24178331T>G | CA363279596 | DCDC2 | c.1325A>C (p.Glu442Ala) c.584A>C (p.Glu195Ala) | |
| 6 | g.24178332C>A | CA363279598 | DCDC2 | c.1324G>T (p.Glu442Ter) c.583G>T (p.Glu195Ter) | COSMIC |
| 6 | g.24178332C>G | CA363279600 | DCDC2 | c.1324G>C (p.Glu442Gln) c.583G>C (p.Glu195Gln) | |
| 6 | g.24178332C>T | CA363279602 | DCDC2 | c.1324G>A (p.Glu442Lys) c.583G>A (p.Glu195Lys) | COSMIC COSMIC |
| 6 | g.24178333A>C | CA363279603 | DCDC2 | c.1323T>G (p.Asp441Glu) c.582T>G (p.Asp194Glu) | gnomAD v4 |
| 6 | g.24178333A>G | CA448963042 | DCDC2 | c.1323T>C (p.Asp441=) c.582T>C (p.Asp194=) | gnomAD v4 |
| 6 | g.24178333A>T | CA363279605 | DCDC2 | c.1323T>A (p.Asp441Glu) c.582T>A (p.Asp194Glu) | |
| 6 | g.24178334T>A | CA363279607 | DCDC2 | c.1322A>T (p.Asp441Val) c.581A>T (p.Asp194Val) | |
| 6 | g.24178334T>C | CA363279609 | DCDC2 | c.1322A>G (p.Asp441Gly) c.581A>G (p.Asp194Gly) | |
| 6 | g.24178334T>G | CA363279610 | DCDC2 | c.1322A>C (p.Asp441Ala) c.581A>C (p.Asp194Ala) | |
| 6 | g.24178335C>A | CA363279616 | DCDC2 | c.1321G>T (p.Asp441Tyr) c.580G>T (p.Asp194Tyr) | |
| 6 | g.24178335C>G | CA363279615 | DCDC2 | c.1321G>C (p.Asp441His) c.580G>C (p.Asp194His) | |
| 6 | g.24178335C>T | CA363279613 | DCDC2 | c.1321G>A (p.Asp441Asn) c.580G>A (p.Asp194Asn) | |
| 6 | g.24178336T>A | CA363279618 | DCDC2 | c.1320A>T (p.Gln440His) c.579A>T (p.Gln193His) | |
| 6 | g.24178336T>C | CA3654462 | DCDC2 | c.1320A>G (p.Gln440=) c.579A>G (p.Gln193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178336T>G | CA363279621 | DCDC2 | c.1320A>C (p.Gln440His) c.579A>C (p.Gln193His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178336T= | CA1616325549 | DCDC2 | c.1320A= (p.Gln440=) c.579A= (p.Gln193=) | |
| 6 | g.24178337T>A | CA363279623 | DCDC2 | c.1319A>T (p.Gln440Leu) c.578A>T (p.Gln193Leu) | |
| 6 | g.24178337T>C | CA363279625 | DCDC2 | c.1319A>G (p.Gln440Arg) c.578A>G (p.Gln193Arg) | |
| 6 | g.24178337T>G | CA363279626 | DCDC2 | c.1319A>C (p.Gln440Pro) c.578A>C (p.Gln193Pro) | |
| 6 | g.24178338G>A | CA3654463 | DCDC2 | c.1318C>T (p.Gln440Ter) c.577C>T (p.Gln193Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178338G>C | CA363279629 | DCDC2 | c.1318C>G (p.Gln440Glu) c.577C>G (p.Gln193Glu) | |
| 6 | g.24178338G= | CA1616325554 | DCDC2 | c.1318C= (p.Gln440=) c.577C= (p.Gln193=) | |
| 6 | g.24178338G>T | CA363279631 | DCDC2 | c.1318C>A (p.Gln440Lys) c.577C>A (p.Gln193Lys) | dbSNP gnomAD v4 |
| 6 | g.24178339T>A | CA448963043 | DCDC2 | c.1317A>T (p.Gly439=) c.576A>T (p.Gly192=) | gnomAD v4 |
| 6 | g.24178339T>C | CA448963044 | DCDC2 | c.1317A>G (p.Gly439=) c.576A>G (p.Gly192=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178339T>G | CA448963045 | DCDC2 | c.1317A>C (p.Gly439=) c.576A>C (p.Gly192=) | |
| 6 | g.24178340C>A | CA363279633 | DCDC2 | c.1316G>T (p.Gly439Val) c.575G>T (p.Gly192Val) | |
| 6 | g.24178340C>G | CA363279634 | DCDC2 | c.1316G>C (p.Gly439Ala) c.575G>C (p.Gly192Ala) | gnomAD v4 |
| 6 | g.24178340C>T | CA363279635 | DCDC2 | c.1316G>A (p.Gly439Glu) c.575G>A (p.Gly192Glu) | dbSNP |
| 6 | g.24178341C>A | CA363279640 | DCDC2 | c.1315G>T (p.Gly439Ter) c.574G>T (p.Gly192Ter) | |
| 6 | g.24178341C>G | CA363279638 | DCDC2 | c.1315G>C (p.Gly439Arg) c.574G>C (p.Gly192Arg) | |
| 6 | g.24178341C>T | CA363279637 | DCDC2 | c.1315G>A (p.Gly439Arg) c.574G>A (p.Gly192Arg) | |
| 6 | g.24178342A= | CA1616325568 | DCDC2 | c.1314T= (p.Ser438=) c.573T= (p.Ser191=) | |
| 6 | g.24178342A>C | CA363279642 | DCDC2 | c.1314T>G (p.Ser438Arg) c.573T>G (p.Ser191Arg) | |
| 6 | g.24178342A>G | CA136622205 | DCDC2 | c.1314T>C (p.Ser438=) c.573T>C (p.Ser191=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.24178342A>T | CA363279644 | DCDC2 | c.1314T>A (p.Ser438Arg) c.573T>A (p.Ser191Arg) | |
| 6 | g.24178343C>A | CA363279646 | DCDC2 | c.1313G>T (p.Ser438Ile) c.572G>T (p.Ser191Ile) | ClinVar |
| 6 | g.24178343C= | CA1616325571 | DCDC2 | c.1313G= (p.Ser438=) c.572G= (p.Ser191=) | |
| 6 | g.24178343C>G | CA363279648 | DCDC2 | c.1313G>C (p.Ser438Thr) c.572G>C (p.Ser191Thr) | COSMIC COSMIC |
| 6 | g.24178343C>T | CA363279650 | DCDC2 | c.1313G>A (p.Ser438Asn) c.572G>A (p.Ser191Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178344T>A | CA363279652 | DCDC2 | c.1312A>T (p.Ser438Cys) c.571A>T (p.Ser191Cys) | |
| 6 | g.24178344T>C | CA136622206 | DCDC2 | c.1312A>G (p.Ser438Gly) c.571A>G (p.Ser191Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178344T>G | CA363279654 | DCDC2 | c.1312A>C (p.Ser438Arg) c.571A>C (p.Ser191Arg) | gnomAD v4 |
| 6 | g.24178344T= | CA1616325574 | DCDC2 | c.1312A= (p.Ser438=) c.571A= (p.Ser191=) | |
| 6 | g.24178345G>A | CA448963046 | DCDC2 | c.1311C>T (p.Gly437=) c.570C>T (p.Gly190=) | |
| 6 | g.24178345G>C | CA448963047 | DCDC2 | c.1311C>G (p.Gly437=) c.570C>G (p.Gly190=) | |
| 6 | g.24178345G>T | CA448963048 | DCDC2 | c.1311C>A (p.Gly437=) c.570C>A (p.Gly190=) | |
| 6 | g.24178346C>A | CA363279657 | DCDC2 | c.1310G>T (p.Gly437Val) c.569G>T (p.Gly190Val) | gnomAD v4 |
| 6 | g.24178346C= | CA1616325578 | DCDC2 | c.1310G= (p.Gly437=) c.569G= (p.Gly190=) | |
| 6 | g.24178346C>G | CA363279658 | DCDC2 | c.1310G>C (p.Gly437Ala) c.569G>C (p.Gly190Ala) | |
| 6 | g.24178346C>T | CA363279659 | DCDC2 | c.1310G>A (p.Gly437Asp) c.569G>A (p.Gly190Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178347C>A | CA363279664 | DCDC2 | c.1309G>T (p.Gly437Cys) c.568G>T (p.Gly190Cys) | |
| 6 | g.24178347C>G | CA363279661 | DCDC2 | c.1309G>C (p.Gly437Arg) c.568G>C (p.Gly190Arg) | |
| 6 | g.24178347C>T | CA363279663 | DCDC2 | c.1309G>A (p.Gly437Ser) c.568G>A (p.Gly190Ser) | gnomAD v4 |
| 6 | g.24178348A= | CA1616325589 | DCDC2 | c.1308T= (p.Ala436=) c.567T= (p.Ala189=) | |
| 6 | g.24178348A>C | CA448963049 | DCDC2 | c.1308T>G (p.Ala436=) c.567T>G (p.Ala189=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178348A>G | CA448963050 | DCDC2 | c.1308T>C (p.Ala436=) c.567T>C (p.Ala189=) | |
| 6 | g.24178348A>T | CA448963051 | DCDC2 | c.1308T>A (p.Ala436=) c.567T>A (p.Ala189=) | |
| 6 | g.24178349G>A | CA363279666 | DCDC2 | c.1307C>T (p.Ala436Val) c.566C>T (p.Ala189Val) | |
| 6 | g.24178349G>C | CA363279668 | DCDC2 | c.1307C>G (p.Ala436Gly) c.566C>G (p.Ala189Gly) | |
| 6 | g.24178349G>T | CA363279670 | DCDC2 | c.1307C>A (p.Ala436Asp) c.566C>A (p.Ala189Asp) | |
| 6 | g.24178350C>A | CA363279672 | DCDC2 | c.1306G>T (p.Ala436Ser) c.565G>T (p.Ala189Ser) | |
| 6 | g.24178350C= | CA1616325598 | DCDC2 | c.1306G= (p.Ala436=) c.565G= (p.Ala189=) | |
| 6 | g.24178350C>G | CA363279676 | DCDC2 | c.1306G>C (p.Ala436Pro) c.565G>C (p.Ala189Pro) | |
| 6 | g.24178350C>T | CA363279678 | DCDC2 | c.1306G>A (p.Ala436Thr) c.565G>A (p.Ala189Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178351T>A | CA448963053 | DCDC2 | c.1305A>T (p.Gly435=) c.564A>T (p.Gly188=) | |
| 6 | g.24178351T>C | CA448963054 | DCDC2 | c.1305A>G (p.Gly435=) c.564A>G (p.Gly188=) | |
| 6 | g.24178351T>G | CA448963052 | DCDC2 | c.1305A>C (p.Gly435=) c.564A>C (p.Gly188=) | |
| 6 | g.24178352C>A | CA363279680 | DCDC2 | c.1304G>T (p.Gly435Val) c.563G>T (p.Gly188Val) | |
| 6 | g.24178352C>G | CA363279682 | DCDC2 | c.1304G>C (p.Gly435Ala) c.563G>C (p.Gly188Ala) | |
| 6 | g.24178352C>T | CA363279684 | DCDC2 | c.1304G>A (p.Gly435Glu) c.563G>A (p.Gly188Glu) | |
| 6 | g.24178353C>A | CA363279686 | DCDC2 | c.1303G>T (p.Gly435Ter) c.562G>T (p.Gly188Ter) | |
| 6 | g.24178353C>G | CA363279688 | DCDC2 | c.1303G>C (p.Gly435Arg) c.562G>C (p.Gly188Arg) | gnomAD v4 |
| 6 | g.24178353C>T | CA363279690 | DCDC2 | c.1303G>A (p.Gly435Arg) c.562G>A (p.Gly188Arg) | |
| 6 | g.24178354T>A | CA363279694 | DCDC2 | c.1302A>T (p.Gln434His) c.561A>T (p.Gln187His) | |
| 6 | g.24178354T>C | CA448963055 | DCDC2 | c.1302A>G (p.Gln434=) c.561A>G (p.Gln187=) | gnomAD v4 |
| 6 | g.24178354T>G | CA363279692 | DCDC2 | c.1302A>C (p.Gln434His) c.561A>C (p.Gln187His) | |
| 6 | g.24178355T>A | CA363279696 | DCDC2 | c.1301A>T (p.Gln434Leu) c.560A>T (p.Gln187Leu) | |
| 6 | g.24178355T>C | CA363279699 | DCDC2 | c.1301A>G (p.Gln434Arg) c.560A>G (p.Gln187Arg) | |
| 6 | g.24178355T>G | CA363279698 | DCDC2 | c.1301A>C (p.Gln434Pro) c.560A>C (p.Gln187Pro) | dbSNP |
| 6 | g.24178356G>A | CA363279701 | DCDC2 | c.1300C>T (p.Gln434Ter) c.559C>T (p.Gln187Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178356G>C | CA363279703 | DCDC2 | c.1300C>G (p.Gln434Glu) c.559C>G (p.Gln187Glu) | |
| 6 | g.24178356G= | CA1616325605 | DCDC2 | c.1300C= (p.Gln434=) c.559C= (p.Gln187=) | |
| 6 | g.24178356G>T | CA363279705 | DCDC2 | c.1300C>A (p.Gln434Lys) c.559C>A (p.Gln187Lys) | |
| 6 | g.24178357A>C | CA448963058 | DCDC2 | c.1299T>G (p.Ser433=) c.558T>G (p.Ser186=) | |
| 6 | g.24178357A>G | CA448963056 | DCDC2 | c.1299T>C (p.Ser433=) c.558T>C (p.Ser186=) | |
| 6 | g.24178357A>T | CA448963057 | DCDC2 | c.1299T>A (p.Ser433=) c.558T>A (p.Ser186=) | |
| 6 | g.24178357_24178361dup | CA1086921941 | DCDC2 | c.1295_1299dup (p.Gln434SerfsTer14) c.554_558dup (p.Gln187SerfsTer14) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178358G>A | CA363279707 | DCDC2 | c.1298C>T (p.Ser433Phe) c.557C>T (p.Ser186Phe) | gnomAD v4 |
| 6 | g.24178358G>C | CA363279708 | DCDC2 | c.1298C>G (p.Ser433Cys) c.557C>G (p.Ser186Cys) | gnomAD v4 |
| 6 | g.24178358G= | CA1616325611 | DCDC2 | c.1298C= (p.Ser433=) c.557C= (p.Ser186=) | |
| 6 | g.24178358G>T | CA363279710 | DCDC2 | c.1298C>A (p.Ser433Tyr) c.557C>A (p.Ser186Tyr) | dbSNP |
| 6 | g.24178359A>C | CA363279711 | DCDC2 | c.1297T>G (p.Ser433Ala) c.556T>G (p.Ser186Ala) | |
| 6 | g.24178359A>G | CA363279712 | DCDC2 | c.1297T>C (p.Ser433Pro) c.556T>C (p.Ser186Pro) | |
| 6 | g.24178359A>T | CA363279714 | DCDC2 | c.1297T>A (p.Ser433Thr) c.556T>A (p.Ser186Thr) | |
| 6 | g.24178360C>A | CA363279715 | DCDC2 | c.1296G>T (p.Lys432Asn) c.555G>T (p.Lys185Asn) | |
| 6 | g.24178360C>G | CA363279716 | DCDC2 | c.1296G>C (p.Lys432Asn) c.555G>C (p.Lys185Asn) | |
| 6 | g.24178360C>T | CA448963059 | DCDC2 | c.1296G>A (p.Lys432=) c.555G>A (p.Lys185=) | gnomAD v4 |
| 6 | g.24178365_24178368del | CA2677514361 | DCDC2 | c.1293_1296del (p.Arg431SerfsTer14) c.552_555del (p.Arg184SerfsTer14) | gnomAD v4 |
| 6 | g.24178361T>A | CA363279720 | DCDC2 | c.1295A>T (p.Lys432Met) c.554A>T (p.Lys185Met) | |
| 6 | g.24178361T>C | CA363279719 | DCDC2 | c.1295A>G (p.Lys432Arg) c.554A>G (p.Lys185Arg) | dbSNP |
| 6 | g.24178361T>G | CA363279717 | DCDC2 | c.1295A>C (p.Lys432Thr) c.554A>C (p.Lys185Thr) | |
| 6 | g.24178361T= | CA1616325614 | DCDC2 | c.1295A= (p.Lys432=) c.554A= (p.Lys185=) | |
| 6 | g.24178362T>A | CA363279722 | DCDC2 | c.1294A>T (p.Lys432Ter) c.553A>T (p.Lys185Ter) | |
| 6 | g.24178362T>C | CA363279724 | DCDC2 | c.1294A>G (p.Lys432Glu) c.553A>G (p.Lys185Glu) | |
| 6 | g.24178362T>G | CA363279725 | DCDC2 | c.1294A>C (p.Lys432Gln) c.553A>C (p.Lys185Gln) | |
| 6 | g.24178363T>A | CA363279728 | DCDC2 | c.1293A>T (p.Arg431Ser) c.552A>T (p.Arg184Ser) | |
| 6 | g.24178363T>C | CA448963060 | DCDC2 | c.1293A>G (p.Arg431=) c.552A>G (p.Arg184=) | dbSNP |
| 6 | g.24178363T>G | CA363279729 | DCDC2 | c.1293A>C (p.Arg431Ser) c.552A>C (p.Arg184Ser) | |
| 6 | g.24178364C>A | CA363279731 | DCDC2 | c.1292G>T (p.Arg431Ile) c.551G>T (p.Arg184Ile) | |
| 6 | g.24178364C>G | CA363279732 | DCDC2 | c.1292G>C (p.Arg431Thr) c.551G>C (p.Arg184Thr) | |
| 6 | g.24178364C>T | CA363279733 | DCDC2 | c.1292G>A (p.Arg431Lys) c.551G>A (p.Arg184Lys) | dbSNP |
| 6 | g.24178365T>A | CA363279734 | DCDC2 | c.1291A>T (p.Arg431Ter) c.550A>T (p.Arg184Ter) | |
| 6 | g.24178365T>C | CA3654464 | DCDC2 | c.1291A>G (p.Arg431Gly) c.550A>G (p.Arg184Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178365T>G | CA448963061 | DCDC2 | c.1291A>C (p.Arg431=) c.550A>C (p.Arg184=) | |
| 6 | g.24178365T= | CA1616325618 | DCDC2 | c.1291A= (p.Arg431=) c.550A= (p.Arg184=) | |
| 6 | g.24178366T>A | CA363279737 | DCDC2 | c.1290A>T (p.Glu430Asp) c.549A>T (p.Glu183Asp) | |
| 6 | g.24178366T>C | CA448963062 | DCDC2 | c.1290A>G (p.Glu430=) c.549A>G (p.Glu183=) | |
| 6 | g.24178366T>G | CA363279738 | DCDC2 | c.1290A>C (p.Glu430Asp) c.549A>C (p.Glu183Asp) | |
| 6 | g.24178367T>A | CA363279744 | DCDC2 | c.1289A>T (p.Glu430Val) c.548A>T (p.Glu183Val) | dbSNP |
| 6 | g.24178367T>C | CA363279742 | DCDC2 | c.1289A>G (p.Glu430Gly) c.548A>G (p.Glu183Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178367T>G | CA363279740 | DCDC2 | c.1289A>C (p.Glu430Ala) c.548A>C (p.Glu183Ala) | |
| 6 | g.24178367T= | CA1616325620 | DCDC2 | c.1289A= (p.Glu430=) c.548A= (p.Glu183=) | |
| 6 | g.24178368C>A | CA363279746 | DCDC2 | c.1288G>T (p.Glu430Ter) c.547G>T (p.Glu183Ter) | gnomAD v4 |
| 6 | g.24178368C= | CA1616325624 | DCDC2 | c.1288G= (p.Glu430=) c.547G= (p.Glu183=) | |
| 6 | g.24178368C>G | CA363279748 | DCDC2 | c.1288G>C (p.Glu430Gln) c.547G>C (p.Glu183Gln) | |
| 6 | g.24178368C>T | CA3654465 | DCDC2 | c.1288G>A (p.Glu430Lys) c.547G>A (p.Glu183Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.24178369C>A | CA363279752 | DCDC2 | c.1287G>T (p.Lys429Asn) c.546G>T (p.Lys182Asn) | |
| 6 | g.24178369C>G | CA363279753 | DCDC2 | c.1287G>C (p.Lys429Asn) c.546G>C (p.Lys182Asn) | |
| 6 | g.24178369C>T | CA448963063 | DCDC2 | c.1287G>A (p.Lys429=) c.546G>A (p.Lys182=) | gnomAD v4 |
| 6 | g.24178370T>A | CA363279759 | DCDC2 | c.1286A>T (p.Lys429Met) c.545A>T (p.Lys182Met) | |
| 6 | g.24178370T>C | CA363279757 | DCDC2 | c.1286A>G (p.Lys429Arg) c.545A>G (p.Lys182Arg) | dbSNP gnomAD v4 |
| 6 | g.24178370T>G | CA363279755 | DCDC2 | c.1286A>C (p.Lys429Thr) c.545A>C (p.Lys182Thr) | |
| 6 | g.24178371T>A | CA363279761 | DCDC2 | c.1285A>T (p.Lys429Ter) c.544A>T (p.Lys182Ter) | gnomAD v4 |
| 6 | g.24178371T>C | CA363279762 | DCDC2 | c.1285A>G (p.Lys429Glu) c.544A>G (p.Lys182Glu) | |
| 6 | g.24178371T>G | CA363279764 | DCDC2 | c.1285A>C (p.Lys429Gln) c.544A>C (p.Lys182Gln) | |
| 6 | g.24178372_24178373dup | CA2677514362 | DCDC2 | c.1284_1285dup (p.Lys429ThrfsTer18) c.543_544dup (p.Lys182ThrfsTer18) | gnomAD v4 |
| 6 | g.24178372G>A | CA3654466 | DCDC2 | c.1284C>T (p.Asp428=) c.543C>T (p.Asp181=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178372G>C | CA363279767 | DCDC2 | c.1284C>G (p.Asp428Glu) c.543C>G (p.Asp181Glu) | |
| 6 | g.24178372G= | CA1616325635 | DCDC2 | c.1284C= (p.Asp428=) c.543C= (p.Asp181=) | |
| 6 | g.24178372G>T | CA363279768 | DCDC2 | c.1284C>A (p.Asp428Glu) c.543C>A (p.Asp181Glu) | COSMIC COSMIC |
| 6 | g.24178373T>A | CA3654467 | DCDC2 | c.1283A>T (p.Asp428Val) c.542A>T (p.Asp181Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.24178373T>C | CA363279773 | DCDC2 | c.1283A>G (p.Asp428Gly) c.542A>G (p.Asp181Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178373T>G | CA363279771 | DCDC2 | c.1283A>C (p.Asp428Ala) c.542A>C (p.Asp181Ala) | |
| 6 | g.24178373T= | CA1616325641 | DCDC2 | c.1283A= (p.Asp428=) c.542A= (p.Asp181=) | |
| 6 | g.24178374C>A | CA363279774 | DCDC2 | c.1282G>T (p.Asp428Tyr) c.541G>T (p.Asp181Tyr) | |
| 6 | g.24178374C>G | CA363279775 | DCDC2 | c.1282G>C (p.Asp428His) c.541G>C (p.Asp181His) | |
| 6 | g.24178374C>T | CA363279776 | DCDC2 | c.1282G>A (p.Asp428Asn) c.541G>A (p.Asp181Asn) | |
| 6 | g.24178375T>A | CA448963064 | DCDC2 | c.1281A>T (p.Leu427=) c.540A>T (p.Leu180=) | |
| 6 | g.24178375T>C | CA448963065 | DCDC2 | c.1281A>G (p.Leu427=) c.540A>G (p.Leu180=) | gnomAD v4 |
| 6 | g.24178375T>G | CA448963066 | DCDC2 | c.1281A>C (p.Leu427=) c.540A>C (p.Leu180=) | |
| 6 | g.24178376A>C | CA363279778 | DCDC2 | c.1280T>G (p.Leu427Arg) c.539T>G (p.Leu180Arg) | |
| 6 | g.24178376A>G | CA363279780 | DCDC2 | c.1280T>C (p.Leu427Pro) c.539T>C (p.Leu180Pro) | |
| 6 | g.24178376A>T | CA363279782 | DCDC2 | c.1280T>A (p.Leu427Gln) c.539T>A (p.Leu180Gln) | |
| 6 | g.24178377G>A | CA448963067 | DCDC2 | c.1279C>T (p.Leu427=) c.538C>T (p.Leu180=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178377G>C | CA363279789 | DCDC2 | c.1279C>G (p.Leu427Val) c.538C>G (p.Leu180Val) | |
| 6 | g.24178377G= | CA1616325644 | DCDC2 | c.1279C= (p.Leu427=) c.538C= (p.Leu180=) | |
| 6 | g.24178377G>T | CA363279791 | DCDC2 | c.1279C>A (p.Leu427Ile) c.538C>A (p.Leu180Ile) | |
| 6 | g.24178378G>A | CA448963068 | DCDC2 | c.1278C>T (p.Val426=) c.537C>T (p.Val179=) | dbSNP |
| 6 | g.24178378G>C | CA448963069 | DCDC2 | c.1278C>G (p.Val426=) c.537C>G (p.Val179=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24178378G= | CA1616325650 | DCDC2 | c.1278C= (p.Val426=) c.537C= (p.Val179=) | |
| 6 | g.24178378G>T | CA448963070 | DCDC2 | c.1278C>A (p.Val426=) c.537C>A (p.Val179=) | |
| 6 | g.24178379A>C | CA363279793 | DCDC2 | c.1277T>G (p.Val426Gly) c.536T>G (p.Val179Gly) | |
| 6 | g.24178379A>G | CA363279795 | DCDC2 | c.1277T>C (p.Val426Ala) c.536T>C (p.Val179Ala) | |
| 6 | g.24178379A>T | CA363279796 | DCDC2 | c.1277T>A (p.Val426Asp) c.536T>A (p.Val179Asp) | |
| 6 | g.24178380C>A | CA363279802 | DCDC2 | c.1276G>T (p.Val426Phe) c.535G>T (p.Val179Phe) | |
| 6 | g.24178380C= | CA1616325652 | DCDC2 | c.1276G= (p.Val426=) c.535G= (p.Val179=) | |
| 6 | g.24178380C>G | CA363279800 | DCDC2 | c.1276G>C (p.Val426Leu) c.535G>C (p.Val179Leu) | |
| 6 | g.24178380C>T | CA363279799 | DCDC2 | c.1276G>A (p.Val426Ile) c.535G>A (p.Val179Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178381C>A | CA3654468 | DCDC2 | c.1275G>T (p.Leu425=) c.534G>T (p.Leu178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178381C= | CA1616325659 | DCDC2 | c.1275G= (p.Leu425=) c.534G= (p.Leu178=) | |
| 6 | g.24178381C>G | CA448963229 | DCDC2 | c.1275G>C (p.Leu425=) c.534G>C (p.Leu178=) | |
| 6 | g.24178381C>T | CA448963230 | DCDC2 | c.1275G>A (p.Leu425=) c.534G>A (p.Leu178=) | |
| 6 | g.24178382A>C | CA363279807 | DCDC2 | c.1274T>G (p.Leu425Arg) c.533T>G (p.Leu178Arg) | |
| 6 | g.24178382A>G | CA363279805 | DCDC2 | c.1274T>C (p.Leu425Pro) c.533T>C (p.Leu178Pro) | |
| 6 | g.24178382A>T | CA363279806 | DCDC2 | c.1274T>A (p.Leu425Gln) c.533T>A (p.Leu178Gln) | |
| 6 | g.24178383G>A | CA3654469 | DCDC2 | c.1273C>T (p.Leu425=) c.532C>T (p.Leu178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.24178383G>C | CA363279810 | DCDC2 | c.1273C>G (p.Leu425Val) c.532C>G (p.Leu178Val) | |
| 6 | g.24178383G= | CA1616325666 | DCDC2 | c.1273C= (p.Leu425=) c.532C= (p.Leu178=) | |
| 6 | g.24178383G>T | CA363279812 | DCDC2 | c.1273C>A (p.Leu425Met) c.532C>A (p.Leu178Met) | |
| 6 | g.24178384T>A | CA363279816 | DCDC2 | c.1272A>T (p.Gln424His) c.531A>T (p.Gln177His) | |
| 6 | g.24178384T>C | CA3654470 | DCDC2 | c.1272A>G (p.Gln424=) c.531A>G (p.Gln177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178384T>G | CA363279814 | DCDC2 | c.1272A>C (p.Gln424His) c.531A>C (p.Gln177His) | |
| 6 | g.24178384T= | CA1616325674 | DCDC2 | c.1272A= (p.Gln424=) c.531A= (p.Gln177=) | |
| 6 | g.24178385T>A | CA363279818 | DCDC2 | c.1271A>T (p.Gln424Leu) c.530A>T (p.Gln177Leu) | |
| 6 | g.24178385T>C | CA363279819 | DCDC2 | c.1271A>G (p.Gln424Arg) c.530A>G (p.Gln177Arg) | |
| 6 | g.24178385T>G | CA280061 | DCDC2 | c.1271A>C (p.Gln424Pro) c.530A>C (p.Gln177Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.24178385T= | CA1616325689 | DCDC2 | c.1271A= (p.Gln424=) c.530A= (p.Gln177=) | |
| 6 | g.24178386G>A | CA363279822 | DCDC2 | c.1270C>T (p.Gln424Ter) c.529C>T (p.Gln177Ter) | |
| 6 | g.24178386G>C | CA363279824 | DCDC2 | c.1270C>G (p.Gln424Glu) c.529C>G (p.Gln177Glu) | |
| 6 | g.24178386G>T | CA363279826 | DCDC2 | c.1270C>A (p.Gln424Lys) c.529C>A (p.Gln177Lys) | |
| 6 | g.24178387A>C | CA448963231 | DCDC2 | c.1269T>G (p.Leu423=) c.528T>G (p.Leu176=) | |
| 6 | g.24178387A>G | CA448963232 | DCDC2 | c.1269T>C (p.Leu423=) c.528T>C (p.Leu176=) | dbSNP |
| 6 | g.24178387A>T | CA448963233 | DCDC2 | c.1269T>A (p.Leu423=) c.528T>A (p.Leu176=) | |
| 6 | g.24178388A>C | CA363279828 | DCDC2 | c.1268T>G (p.Leu423Arg) c.527T>G (p.Leu176Arg) | |
| 6 | g.24178388A>G | CA363279832 | DCDC2 | c.1268T>C (p.Leu423Pro) c.527T>C (p.Leu176Pro) | |
| 6 | g.24178388A>T | CA363279830 | DCDC2 | c.1268T>A (p.Leu423His) c.527T>A (p.Leu176His) | |
| 6 | g.24178389del | CA2578541619 | DCDC2 | c.1267del (p.Leu423PhefsTer5) c.526del (p.Leu176PhefsTer5) | |
| 6 | g.24178389G>A | CA363279834 | DCDC2 | c.1267C>T (p.Leu423Phe) c.526C>T (p.Leu176Phe) | |
| 6 | g.24178389G>C | CA363279836 | DCDC2 | c.1267C>G (p.Leu423Val) c.526C>G (p.Leu176Val) | |
| 6 | g.24178389G>T | CA363279838 | DCDC2 | c.1267C>A (p.Leu423Ile) c.526C>A (p.Leu176Ile) | |
| 6 | g.24178390C>A | CA363279840 | DCDC2 | c.1266G>T (p.Glu422Asp) c.525G>T (p.Glu175Asp) | |
| 6 | g.24178390C>G | CA363279842 | DCDC2 | c.1266G>C (p.Glu422Asp) c.525G>C (p.Glu175Asp) | |
| 6 | g.24178390C>T | CA448963234 | DCDC2 | c.1266G>A (p.Glu422=) c.525G>A (p.Glu175=) | |
| 6 | g.24178391T>A | CA363279848 | DCDC2 | c.1265A>T (p.Glu422Val) c.524A>T (p.Glu175Val) | |
| 6 | g.24178391T>C | CA136622207 | DCDC2 | c.1265A>G (p.Glu422Gly) c.524A>G (p.Glu175Gly) | dbSNP |
| 6 | g.24178391T>G | CA363279849 | DCDC2 | c.1265A>C (p.Glu422Ala) c.524A>C (p.Glu175Ala) | |
| 6 | g.24178391T= | CA1616325692 | DCDC2 | c.1265A= (p.Glu422=) c.524A= (p.Glu175=) | |
| 6 | g.24178392C>A | CA363279850 | DCDC2 | c.1264G>T (p.Glu422Ter) c.523G>T (p.Glu175Ter) | COSMIC COSMIC |
| 6 | g.24178392C>G | CA363279851 | DCDC2 | c.1264G>C (p.Glu422Gln) c.523G>C (p.Glu175Gln) | |
| 6 | g.24178392C>T | CA363279852 | DCDC2 | c.1264G>A (p.Glu422Lys) c.523G>A (p.Glu175Lys) | gnomAD v4 |
| 6 | g.24178393A= | CA1616325697 | DCDC2 | c.1263T= (p.Asn421=) c.522T= (p.Asn174=) | |
| 6 | g.24178393A>C | CA363279853 | DCDC2 | c.1263T>G (p.Asn421Lys) c.522T>G (p.Asn174Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.24178393A>G | CA448963235 | DCDC2 | c.1263T>C (p.Asn421=) c.522T>C (p.Asn174=) | |
| 6 | g.24178393A>T | CA3654471 | DCDC2 | c.1263T>A (p.Asn421Lys) c.522T>A (p.Asn174Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178393_24178394delinsAT | CA1616325700 | DCDC2 | c.1262_1263delinsAT (p.Asn421=) c.521_522delinsAT (p.Asn174=) | |
| 6 | g.24178397_24178399del | CA2677514363 | DCDC2 | c.1261_1263del (p.Asn421del) c.520_522del (p.Asn174del) | gnomAD v4 |
| 6 | g.24178394T>A | CA363279855 | DCDC2 | c.1262A>T (p.Asn421Ile) c.521A>T (p.Asn174Ile) | |
| 6 | g.24178394T>C | CA363279856 | DCDC2 | c.1262A>G (p.Asn421Ser) c.521A>G (p.Asn174Ser) | |
| 6 | g.24178394T>G | CA363279857 | DCDC2 | c.1262A>C (p.Asn421Thr) c.521A>C (p.Asn174Thr) | |
| 6 | g.24178395del | CA1616325705 | DCDC2 | c.1262del (p.Asn421MetfsTer7) c.521del (p.Asn174MetfsTer7) | dbSNP |
| 6 | g.24178395T>A | CA363279858 | DCDC2 | c.1261A>T (p.Asn421Tyr) c.520A>T (p.Asn174Tyr) | |
| 6 | g.24178395T>C | CA363279859 | DCDC2 | c.1261A>G (p.Asn421Asp) c.520A>G (p.Asn174Asp) | |
| 6 | g.24178395T>G | CA363279860 | DCDC2 | c.1261A>C (p.Asn421His) c.520A>C (p.Asn174His) | |
| 6 | g.24178396A= | CA1616325708 | DCDC2 | c.1260T= (p.Asn420=) c.519T= (p.Asn173=) | |
| 6 | g.24178396A>C | CA363279862 | DCDC2 | c.1260T>G (p.Asn420Lys) c.519T>G (p.Asn173Lys) | |
| 6 | g.24178396A>G | CA448963236 | DCDC2 | c.1260T>C (p.Asn420=) c.519T>C (p.Asn173=) | dbSNP gnomAD v4 |
| 6 | g.24178396A>T | CA363279861 | DCDC2 | c.1260T>A (p.Asn420Lys) c.519T>A (p.Asn173Lys) | |
| 6 | g.24178397T>A | CA363279863 | DCDC2 | c.1259A>T (p.Asn420Ile) c.518A>T (p.Asn173Ile) | |
| 6 | g.24178397T>C | CA363279864 | DCDC2 | c.1259A>G (p.Asn420Ser) c.518A>G (p.Asn173Ser) | |
| 6 | g.24178397T>G | CA363279865 | DCDC2 | c.1259A>C (p.Asn420Thr) c.518A>C (p.Asn173Thr) | |
| 6 | g.24178398T>A | CA363279866 | DCDC2 | c.1258A>T (p.Asn420Tyr) c.517A>T (p.Asn173Tyr) | |
| 6 | g.24178398T>C | CA363279867 | DCDC2 | c.1258A>G (p.Asn420Asp) c.517A>G (p.Asn173Asp) | |
| 6 | g.24178398T>G | CA363279868 | DCDC2 | c.1258A>C (p.Asn420His) c.517A>C (p.Asn173His) | |
| 6 | g.24178399A>C | CA448963237 | DCDC2 | c.1257T>G (p.Val419=) c.516T>G (p.Val172=) | |
| 6 | g.24178399A>G | CA448963238 | DCDC2 | c.1257T>C (p.Val419=) c.516T>C (p.Val172=) | |
| 6 | g.24178399A>T | CA448963239 | DCDC2 | c.1257T>A (p.Val419=) c.516T>A (p.Val172=) | |
| 6 | g.24178400A>C | CA363279871 | DCDC2 | c.1256T>G (p.Val419Gly) c.515T>G (p.Val172Gly) | |
| 6 | g.24178400A>G | CA363279869 | DCDC2 | c.1256T>C (p.Val419Ala) c.515T>C (p.Val172Ala) | |
| 6 | g.24178400A>T | CA363279870 | DCDC2 | c.1256T>A (p.Val419Asp) c.515T>A (p.Val172Asp) | dbSNP |
| 6 | g.24178401C>A | CA3654472 | DCDC2 | c.1255G>T (p.Val419Phe) c.514G>T (p.Val172Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24178401C= | CA1616325713 | DCDC2 | c.1255G= (p.Val419=) c.514G= (p.Val172=) | |
| 6 | g.24178401C>G | CA363279872 | DCDC2 | c.1255G>C (p.Val419Leu) c.514G>C (p.Val172Leu) | |
| 6 | g.24178401C>T | CA363279874 | DCDC2 | c.1255G>A (p.Val419Ile) c.514G>A (p.Val172Ile) |