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 |
|---|---|---|---|---|---|
| 7 | g.50544015dup | CA2682813289 | DDC | c.72dup (p.Glu25Ter) | gnomAD v4 |
| 7 | g.50544015A= | CA1706653910 | DDC | c.71T= (p.Ile24=) | |
| 7 | g.50544015A>C | CA367532089 | DDC | c.71T>G (p.Ile24Ser) | |
| 7 | g.50544015A>G | CA367532085 | DDC | c.71T>C (p.Ile24Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50544015A>T | CA367532087 | DDC | c.71T>A (p.Ile24Asn) | |
| 7 | g.50544016T>A | CA367532091 | DDC | c.70A>T (p.Ile24Phe) | |
| 7 | g.50544016T>C | CA367532092 | DDC | c.70A>G (p.Ile24Val) | |
| 7 | g.50544016T>G | CA367532094 | DDC | c.70A>C (p.Ile24Leu) | |
| 7 | g.50544017G>A | CA454943522 | DDC | c.69C>T (p.Gly23=) | |
| 7 | g.50544017G>C | CA454943524 | DDC | c.69C>G (p.Gly23=) | |
| 7 | g.50544017G>T | CA454943526 | DDC | c.69C>A (p.Gly23=) | |
| 7 | g.50544018C>A | CA367532096 | DDC | c.68G>T (p.Gly23Val) | ClinVar gnomAD v4 |
| 7 | g.50544018C= | CA1706653911 | DDC | c.68G= (p.Gly23=) | |
| 7 | g.50544018C>G | CA367532099 | DDC | c.68G>C (p.Gly23Ala) | |
| 7 | g.50544018C>T | CA367532101 | DDC | c.68G>A (p.Gly23Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50544019C>A | CA367532102 | DDC | c.67G>T (p.Gly23Cys) | |
| 7 | g.50544019C>G | CA367532104 | DDC | c.67G>C (p.Gly23Arg) | |
| 7 | g.50544019C>T | CA367532106 | DDC | c.67G>A (p.Gly23Ser) | |
| 7 | g.50544020T>A | CA367532108 | DDC | c.66A>T (p.Glu22Asp) | |
| 7 | g.50544020T>C | CA454943528 | DDC | c.66A>G (p.Glu22=) | |
| 7 | g.50544020T>G | CA367532110 | DDC | c.66A>C (p.Glu22Asp) | |
| 7 | g.50544021T>A | CA367532117 | DDC | c.65A>T (p.Glu22Val) | |
| 7 | g.50544021T>C | CA367532115 | DDC | c.65A>G (p.Glu22Gly) | |
| 7 | g.50544021T>G | CA367532112 | DDC | c.65A>C (p.Glu22Ala) | |
| 7 | g.50544022C>A | CA367532119 | DDC | c.64G>T (p.Glu22Ter) | |
| 7 | g.50544022C>G | CA367532121 | DDC | c.64G>C (p.Glu22Gln) | |
| 7 | g.50544022C>T | CA367532123 | DDC | c.64G>A (p.Glu22Lys) | |
| 7 | g.50544023C>A | CA367532126 | DDC | c.63G>T (p.Met21Ile) | |
| 7 | g.50544023C>G | CA367532128 | DDC | c.63G>C (p.Met21Ile) | |
| 7 | g.50544023C>T | CA367532130 | DDC | c.63G>A (p.Met21Ile) | |
| 7 | g.50544024A= | CA1706653912 | DDC | c.62T= (p.Met21=) | |
| 7 | g.50544024A>C | CA367532136 | DDC | c.62T>G (p.Met21Arg) | |
| 7 | g.50544024A>G | CA158234573 | DDC | c.62T>C (p.Met21Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544024A>T | CA367532133 | DDC | c.62T>A (p.Met21Lys) | |
| 7 | g.50544025T>A | CA367532139 | DDC | c.61A>T (p.Met21Leu) | |
| 7 | g.50544025T>C | CA158234574 | DDC | c.61A>G (p.Met21Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50544025T>G | CA367532142 | DDC | c.61A>C (p.Met21Leu) | |
| 7 | g.50544025T= | CA1706653913 | DDC | c.61A= (p.Met21=) | |
| 7 | g.50544026G>A | CA454943531 | DDC | c.60C>T (p.Tyr20=) | gnomAD v4 |
| 7 | g.50544026G>C | CA367532144 | DDC | c.60C>G (p.Tyr20Ter) | |
| 7 | g.50544026G>T | CA367532146 | DDC | c.60C>A (p.Tyr20Ter) | |
| 7 | g.50544028_50544030del | CA2695207782 | DDC | c.58_60del (p.Tyr20del) | |
| 7 | g.50544027T>A | CA367532149 | DDC | c.59A>T (p.Tyr20Phe) | |
| 7 | g.50544027T>C | CA367532153 | DDC | c.59A>G (p.Tyr20Cys) | gnomAD v4 |
| 7 | g.50544027T>G | CA367532151 | DDC | c.59A>C (p.Tyr20Ser) | |
| 7 | g.50544028A= | CA1706653914 | DDC | c.58T= (p.Tyr20=) | |
| 7 | g.50544028A>C | CA367532155 | DDC | c.58T>G (p.Tyr20Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50544028A>G | CA367532156 | DDC | c.58T>C (p.Tyr20His) | |
| 7 | g.50544028A>T | CA367532159 | DDC | c.58T>A (p.Tyr20Asn) | |
| 7 | g.50544029G>A | CA454943535 | DDC | c.57C>T (p.Asn19=) | |
| 7 | g.50544029G>C | CA367532161 | DDC | c.57C>G (p.Asn19Lys) | |
| 7 | g.50544029G= | CA1706653915 | DDC | c.57C= (p.Asn19=) | |
| 7 | g.50544029G>T | CA367532163 | DDC | c.57C>A (p.Asn19Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544030T>A | CA367532165 | DDC | c.56A>T (p.Asn19Ile) | |
| 7 | g.50544030T>C | CA367532168 | DDC | c.56A>G (p.Asn19Ser) | gnomAD v4 COSMIC COSMIC |
| 7 | g.50544030T>G | CA367532170 | DDC | c.56A>C (p.Asn19Thr) | |
| 7 | g.50544031T>A | CA367532172 | DDC | c.55A>T (p.Asn19Tyr) | |
| 7 | g.50544031T>C | CA367532174 | DDC | c.55A>G (p.Asn19Asp) | |
| 7 | g.50544031T>G | CA367532176 | DDC | c.55A>C (p.Asn19His) | |
| 7 | g.50544032G>A | CA454943539 | DDC | c.54C>T (p.Ala18=) | |
| 7 | g.50544032G>C | CA454943540 | DDC | c.54C>G (p.Ala18=) | |
| 7 | g.50544032G>T | CA454943541 | DDC | c.54C>A (p.Ala18=) | |
| 7 | g.50544033del | CA2682813290 | DDC | c.54del (p.Asn19ThrfsTer23) c.54del (p.Asn19ThrfsTer?) | gnomAD v4 |
| 7 | g.50544033G>A | CA367532180 | DDC | c.53C>T (p.Ala18Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544033G>C | CA367532183 | DDC | c.53C>G (p.Ala18Gly) | |
| 7 | g.50544033G= | CA1706653916 | DDC | c.53C= (p.Ala18=) | |
| 7 | g.50544033G>T | CA367532178 | DDC | c.53C>A (p.Ala18Asp) | |
| 7 | g.50544034C>A | CA367532190 | DDC | c.52G>T (p.Ala18Ser) | |
| 7 | g.50544034C= | CA1706653917 | DDC | c.52G= (p.Ala18=) | |
| 7 | g.50544034C>G | CA367532186 | DDC | c.52G>C (p.Ala18Pro) | |
| 7 | g.50544034C>T | CA367532188 | DDC | c.52G>A (p.Ala18Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50544035C>A | CA367532192 | DDC | c.51G>T (p.Met17Ile) c.51G>T (p.Val17=) | |
| 7 | g.50544035C>G | CA367532195 | DDC | c.51G>C (p.Met17Ile) c.51G>C (p.Val17=) | |
| 7 | g.50544035C>T | CA367532196 | DDC | c.51G>A (p.Met17Ile) c.51G>A (p.Val17=) | |
| 7 | g.50544036A>C | CA367532203 | DDC | c.50T>G (p.Met17Arg) c.50T>G (p.Val17Gly) | |
| 7 | g.50544036A>G | CA367532201 | DDC | c.50T>C (p.Met17Thr) c.50T>C (p.Val17Ala) | |
| 7 | g.50544036A>T | CA367532199 | DDC | c.50T>A (p.Met17Lys) c.50T>A (p.Val17Glu) | |
| 7 | g.50544037T>A | CA367532206 | DDC | c.49A>T (p.Met17Leu) | |
| 7 | g.50544037T>C | CA4262512 | DDC | c.49A>G (p.Met17Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544037T>G | CA367532209 | DDC | c.49A>C (p.Met17Leu) | |
| 7 | g.50544037T= | CA1706653918 | DDC | c.49A= (p.Met17=) | |
| 7 | g.50544037_50544038delinsCA | CA2573142191 | DDC | c.48_49delinsTG (p.Met17Val) | |
| 7 | g.50544037_50544038delinsCT | CA2573142190 | DDC | c.48_49delinsAG (p.Tyr16Ter) | ClinVar dbSNP |
| 7 | g.50544038G>A | CA4262513 | DDC | c.48C>T (p.Tyr16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50544038G>C | CA4262514 | DDC | c.48C>G (p.Tyr16Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50544038G= | CA1706653919 | DDC | c.48C= (p.Tyr16=) | |
| 7 | g.50544038G>T | CA367532214 | DDC | c.48C>A (p.Tyr16Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544040_50544041insGTTGGCCACGTA | CA2714495649 | DDC | c.48_49insGTGGCCAACTAC (p.Tyr16_Met17insValAlaAsnTyr) c.48_49insGTGGCCAACTAC (p.Tyr16_Val17insValAlaAsnTyr) | dbSNP |
| 7 | g.50544039T>A | CA367532217 | DDC | c.47A>T (p.Tyr16Phe) | |
| 7 | g.50544039T>C | CA367532221 | DDC | c.47A>G (p.Tyr16Cys) | |
| 7 | g.50544039T>G | CA367532219 | DDC | c.47A>C (p.Tyr16Ser) | |
| 7 | g.50544040A>C | CA367532223 | DDC | c.46T>G (p.Tyr16Asp) | |
| 7 | g.50544040A>G | CA367532226 | DDC | c.46T>C (p.Tyr16His) | |
| 7 | g.50544040A>T | CA367532228 | DDC | c.46T>A (p.Tyr16Asn) | |
| 7 | g.50544041del | CA2775390652 | DDC | c.46del (p.Tyr16ThrfsTer26) c.46del (p.Tyr16ThrfsTer?) | |
| 7 | g.50544041A>C | CA367532231 | DDC | c.45T>G (p.Asp15Glu) | |
| 7 | g.50544041A>G | CA454943543 | DDC | c.45T>C (p.Asp15=) | |
| 7 | g.50544041A>T | CA367532233 | DDC | c.45T>A (p.Asp15Glu) | |
| 7 | g.50544042T>A | CA367532236 | DDC | c.44A>T (p.Asp15Val) | |
| 7 | g.50544042T>C | CA367532237 | DDC | c.44A>G (p.Asp15Gly) | |
| 7 | g.50544042T>G | CA367532238 | DDC | c.44A>C (p.Asp15Ala) | |
| 7 | g.50544043C>A | CA367532239 | DDC | c.43G>T (p.Asp15Tyr) | |
| 7 | g.50544043C= | CA1706653920 | DDC | c.43G= (p.Asp15=) | |
| 7 | g.50544043C>G | CA367532241 | DDC | c.43G>C (p.Asp15His) | |
| 7 | g.50544043C>T | CA4262515 | DDC | c.43G>A (p.Asp15Asn) | dbSNP ExAC gnomAD v2 |
| 7 | g.50544046_50544048dup | CA2682813291 | DDC | c.41_43dup (p.Val14_Asp15insVal) | gnomAD v4 |
| 7 | g.50544044C>A | CA454943544 | DDC | c.42G>T (p.Val14=) | |
| 7 | g.50544044C= | CA1706653921 | DDC | c.42G= (p.Val14=) | |
| 7 | g.50544044C>G | CA454943545 | DDC | c.42G>C (p.Val14=) | |
| 7 | g.50544044C>T | CA454943546 | DDC | c.42G>A (p.Val14=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.50544045A>C | CA367532248 | DDC | c.41T>G (p.Val14Gly) | |
| 7 | g.50544045A>G | CA367532247 | DDC | c.41T>C (p.Val14Ala) | |
| 7 | g.50544045A>T | CA367532245 | DDC | c.41T>A (p.Val14Glu) | |
| 7 | g.50544046C>A | CA367532250 | DDC | c.40G>T (p.Val14Leu) | |
| 7 | g.50544046C= | CA1706653922 | DDC | c.40G= (p.Val14=) | |
| 7 | g.50544046C>G | CA367532253 | DDC | c.40G>C (p.Val14Leu) | |
| 7 | g.50544046C>T | CA4262516 | DDC | c.40G>A (p.Val14Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544047C>A | CA367532255 | DDC | c.39G>T (p.Met13Ile) | |
| 7 | g.50544047C= | CA1706653923 | DDC | c.39G= (p.Met13=) | |
| 7 | g.50544047C>G | CA367532257 | DDC | c.39G>C (p.Met13Ile) | |
| 7 | g.50544047C>T | CA367532259 | DDC | c.39G>A (p.Met13Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50544048A= | CA1706653924 | DDC | c.38T= (p.Met13=) | |
| 7 | g.50544048A>C | CA367532262 | DDC | c.38T>G (p.Met13Arg) | |
| 7 | g.50544048A>G | CA367532264 | DDC | c.38T>C (p.Met13Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544048A>T | CA367532266 | DDC | c.38T>A (p.Met13Lys) | |
| 7 | g.50544048_50544058delinsATCTCCTTCCC | CA1706653925 | DDC | c.28_38delinsGGGAAGGAGAT (p.Gly10=) | |
| 7 | g.50544049T>A | CA367532269 | DDC | c.37A>T (p.Met13Leu) | gnomAD v4 |
| 7 | g.50544049T>C | CA158234575 | DDC | c.37A>G (p.Met13Val) | dbSNP |
| 7 | g.50544049T>G | CA367532272 | DDC | c.37A>C (p.Met13Leu) | |
| 7 | g.50544049T= | CA1706653927 | DDC | c.37A= (p.Met13=) | |
| 7 | g.50544057_50544066del | CA1706653926 | DDC | c.28_37del (p.Gly10TrpfsTer29) c.28_37del (p.Gly10TrpfsTer?) | dbSNP gnomAD v4 |
| 7 | g.50544050C>A | CA367532275 | DDC | c.36G>T (p.Glu12Asp) | |
| 7 | g.50544050C>G | CA367532278 | DDC | c.36G>C (p.Glu12Asp) | COSMIC COSMIC |
| 7 | g.50544050C>T | CA454943547 | DDC | c.36G>A (p.Glu12=) | |
| 7 | g.50544051T>A | CA367532285 | DDC | c.35A>T (p.Glu12Val) | |
| 7 | g.50544051T>C | CA367532283 | DDC | c.35A>G (p.Glu12Gly) | |
| 7 | g.50544051T>G | CA367532281 | DDC | c.35A>C (p.Glu12Ala) | |
| 7 | g.50544051T= | CA1706653928 | DDC | c.35A= (p.Glu12=) | |
| 7 | g.50544051_50544052insG | CA1706653929 | DDC | c.34_35insC (p.Glu12AlafsTer14) | dbSNP |
| 7 | g.50544052C>A | CA367532287 | DDC | c.34G>T (p.Glu12Ter) | dbSNP |
| 7 | g.50544052C= | CA1706653930 | DDC | c.34G= (p.Glu12=) | |
| 7 | g.50544052C>G | CA367532290 | DDC | c.34G>C (p.Glu12Gln) | |
| 7 | g.50544052C>T | CA367532292 | DDC | c.34G>A (p.Glu12Lys) | gnomAD v4 |
| 7 | g.50544053C>A | CA367532294 | DDC | c.33G>T (p.Lys11Asn) | |
| 7 | g.50544053C= | CA1706653931 | DDC | c.33G= (p.Lys11=) | |
| 7 | g.50544053C>G | CA367532297 | DDC | c.33G>C (p.Lys11Asn) | |
| 7 | g.50544053C>T | CA4262517 | DDC | c.33G>A (p.Lys11=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544054T>A | CA367532301 | DDC | c.32A>T (p.Lys11Met) | |
| 7 | g.50544054T>C | CA367532304 | DDC | c.32A>G (p.Lys11Arg) | |
| 7 | g.50544054T>G | CA367532306 | DDC | c.32A>C (p.Lys11Thr) | gnomAD v4 |
| 7 | g.50544055T>A | CA367532308 | DDC | c.31A>T (p.Lys11Ter) | |
| 7 | g.50544055T>C | CA367532310 | DDC | c.31A>G (p.Lys11Glu) | |
| 7 | g.50544055T>G | CA367532311 | DDC | c.31A>C (p.Lys11Gln) | |
| 7 | g.50544056C>A | CA454943548 | DDC | c.30G>T (p.Gly10=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50544056C= | CA1706653932 | DDC | c.30G= (p.Gly10=) | |
| 7 | g.50544056C>G | CA454943550 | DDC | c.30G>C (p.Gly10=) | |
| 7 | g.50544056C>T | CA454943549 | DDC | c.30G>A (p.Gly10=) | |
| 7 | g.50544057C>A | CA367532318 | DDC | c.29G>T (p.Gly10Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50544057C= | CA1706653933 | DDC | c.29G= (p.Gly10=) | |
| 7 | g.50544057C>G | CA367532316 | DDC | c.29G>C (p.Gly10Ala) | |
| 7 | g.50544057C>T | CA367532315 | DDC | c.29G>A (p.Gly10Glu) | |
| 7 | g.50544058C>A | CA367532319 | DDC | c.28G>T (p.Gly10Trp) | |
| 7 | g.50544058C= | CA1706653934 | DDC | c.28G= (p.Gly10=) | |
| 7 | g.50544058C>G | CA367532322 | DDC | c.28G>C (p.Gly10Arg) | |
| 7 | g.50544058C>T | CA367532321 | DDC | c.28G>A (p.Gly10Arg) | dbSNP gnomAD v4 |
| 7 | g.50544059T>A | CA367532325 | DDC | c.27A>T (p.Arg9Ser) | gnomAD v4 |
| 7 | g.50544059T>C | CA454943552 | DDC | c.27A>G (p.Arg9=) | |
| 7 | g.50544059T>G | CA367532327 | DDC | c.27A>C (p.Arg9Ser) | |
| 7 | g.50544060C>A | CA367532328 | DDC | c.26G>T (p.Arg9Ile) | |
| 7 | g.50544060C= | CA1706653935 | DDC | c.26G= (p.Arg9=) | |
| 7 | g.50544060C>G | CA367532332 | DDC | c.26G>C (p.Arg9Thr) | COSMIC COSMIC |
| 7 | g.50544060C>T | CA367532330 | DDC | c.26G>A (p.Arg9Lys) | dbSNP |
| 7 | g.50544061T>A | CA367532334 | DDC | c.25A>T (p.Arg9Ter) | |
| 7 | g.50544061T>C | CA367532336 | DDC | c.25A>G (p.Arg9Gly) | |
| 7 | g.50544061T>G | CA454943553 | DDC | c.25A>C (p.Arg9=) | |
| 7 | g.50544062C>A | CA367532339 | DDC | c.24G>T (p.Arg8Ser) | |
| 7 | g.50544062C= | CA1706653936 | DDC | c.24G= (p.Arg8=) | |
| 7 | g.50544062C>G | CA367532341 | DDC | c.24G>C (p.Arg8Ser) | dbSNP |
| 7 | g.50544062C>T | CA158234576 | DDC | c.24G>A (p.Arg8=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50544063C>A | CA367532345 | DDC | c.23G>T (p.Arg8Met) | |
| 7 | g.50544063C= | CA1706653937 | DDC | c.23G= (p.Arg8=) | |
| 7 | g.50544063C>G | CA367532347 | DDC | c.23G>C (p.Arg8Thr) | dbSNP |
| 7 | g.50544063C>T | CA367532350 | DDC | c.23G>A (p.Arg8Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544064T>A | CA367532352 | DDC | c.22A>T (p.Arg8Trp) | |
| 7 | g.50544064T>C | CA367532354 | DDC | c.22A>G (p.Arg8Gly) | |
| 7 | g.50544064T>G | CA454943554 | DDC | c.22A>C (p.Arg8=) | |
| 7 | g.50544065T>A | CA454943555 | DDC | c.21A>T (p.Arg7=) | |
| 7 | g.50544065T>C | CA454943556 | DDC | c.21A>G (p.Arg7=) | |
| 7 | g.50544065T>G | CA454943557 | DDC | c.21A>C (p.Arg7=) | |
| 7 | g.50544066C>A | CA367532357 | DDC | c.20G>T (p.Arg7Leu) | |
| 7 | g.50544066C= | CA1706653938 | DDC | c.20G= (p.Arg7=) | |
| 7 | g.50544066C>G | CA367532359 | DDC | c.20G>C (p.Arg7Pro) | |
| 7 | g.50544066C>T | CA4262518 | DDC | c.20G>A (p.Arg7Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544067G>A | CA4262519 | DDC | c.19C>T (p.Arg7Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544067G>C | CA367532364 | DDC | c.19C>G (p.Arg7Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544067G= | CA1706653939 | DDC | c.19C= (p.Arg7=) | |
| 7 | g.50544067G>T | CA454943558 | DDC | c.19C>A (p.Arg7=) | |
| 7 | g.50544068G>A | CA454943559 | DDC | c.18C>T (p.Phe6=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544068G>C | CA367532366 | DDC | c.18C>G (p.Phe6Leu) | |
| 7 | g.50544068G= | CA1706653940 | DDC | c.18C= (p.Phe6=) | |
| 7 | g.50544068G>T | CA367532368 | DDC | c.18C>A (p.Phe6Leu) | dbSNP |
| 7 | g.50544069A>C | CA367532371 | DDC | c.17T>G (p.Phe6Cys) | |
| 7 | g.50544069A>G | CA367532373 | DDC | c.17T>C (p.Phe6Ser) | |
| 7 | g.50544069A>T | CA367532374 | DDC | c.17T>A (p.Phe6Tyr) | |
| 7 | g.50544070A>C | CA367532377 | DDC | c.16T>G (p.Phe6Val) | |
| 7 | g.50544070A>G | CA367532379 | DDC | c.16T>C (p.Phe6Leu) | gnomAD v4 |
| 7 | g.50544070A>T | CA367532382 | DDC | c.16T>A (p.Phe6Ile) | |
| 7 | g.50544071T>A | CA367532384 | DDC | c.15A>T (p.Glu5Asp) | |
| 7 | g.50544071T>C | CA454943560 | DDC | c.15A>G (p.Glu5=) | |
| 7 | g.50544071T>G | CA367532385 | DDC | c.15A>C (p.Glu5Asp) | |
| 7 | g.50544072T>A | CA367532387 | DDC | c.14A>T (p.Glu5Val) | |
| 7 | g.50544072T>C | CA367532389 | DDC | c.14A>G (p.Glu5Gly) | |
| 7 | g.50544072T>G | CA367532391 | DDC | c.14A>C (p.Glu5Ala) | |
| 7 | g.50544073C>A | CA367532392 | DDC | c.13G>T (p.Glu5Ter) | |
| 7 | g.50544073C>G | CA367532396 | DDC | c.13G>C (p.Glu5Gln) | |
| 7 | g.50544073C>T | CA367532394 | DDC | c.13G>A (p.Glu5Lys) | |
| 7 | g.50544074A>C | CA367532399 | DDC | c.12T>G (p.Ser4Arg) | |
| 7 | g.50544074A>G | CA454943561 | DDC | c.12T>C (p.Ser4=) | |
| 7 | g.50544074A>T | CA367532401 | DDC | c.12T>A (p.Ser4Arg) | |
| 7 | g.50544075C>A | CA367532403 | DDC | c.11G>T (p.Ser4Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544075C= | CA1706653941 | DDC | c.11G= (p.Ser4=) | |
| 7 | g.50544075C>G | CA4262520 | DDC | c.11G>C (p.Ser4Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544075C>T | CA367532407 | DDC | c.11G>A (p.Ser4Asn) | |
| 7 | g.50544076T>A | CA367532410 | DDC | c.10A>T (p.Ser4Cys) | |
| 7 | g.50544076T>C | CA367532412 | DDC | c.10A>G (p.Ser4Gly) | |
| 7 | g.50544076T>G | CA4262521 | DDC | c.10A>C (p.Ser4Arg) | dbSNP ExAC gnomAD v2 |
| 7 | g.50544076T= | CA1706653942 | DDC | c.10A= (p.Ser4=) | |
| 7 | g.50544077T>A | CA454943563 | DDC | c.9A>T (p.Ala3=) | |
| 7 | g.50544077T>C | CA454943562 | DDC | c.9A>G (p.Ala3=) | |
| 7 | g.50544077T>G | CA4262522 | DDC | c.9A>C (p.Ala3=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50544077T= | CA1706653943 | DDC | c.9A= (p.Ala3=) | |
| 7 | g.50544078G>A | CA367532418 | DDC | c.8C>T (p.Ala3Val) | |
| 7 | g.50544078G>C | CA367532419 | DDC | c.8C>G (p.Ala3Gly) | |
| 7 | g.50544078G>T | CA367532422 | DDC | c.8C>A (p.Ala3Glu) | |
| 7 | g.50544079C>A | CA367532427 | DDC | c.7G>T (p.Ala3Ser) | |
| 7 | g.50544079C= | CA1706653944 | DDC | c.7G= (p.Ala3=) | |
| 7 | g.50544079C>G | CA367532425 | DDC | c.7G>C (p.Ala3Pro) | |
| 7 | g.50544079C>T | CA4262523 | DDC | c.7G>A (p.Ala3Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50544080G>A | CA4262524 | DDC | c.6C>T (p.Asn2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544080G>C | CA367532429 | DDC | c.6C>G (p.Asn2Lys) | |
| 7 | g.50544080G= | CA1706653945 | DDC | c.6C= (p.Asn2=) | |
| 7 | g.50544080G>T | CA367532431 | DDC | c.6C>A (p.Asn2Lys) | gnomAD v4 |
| 7 | g.50544081T>A | CA4262525 | DDC | c.5A>T (p.Asn2Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50544081T>C | CA367532436 | DDC | c.5A>G (p.Asn2Ser) | |
| 7 | g.50544081T>G | CA367532437 | DDC | c.5A>C (p.Asn2Thr) | |
| 7 | g.50544081T= | CA1706653946 | DDC | c.5A= (p.Asn2=) | |
| 7 | g.50544082T>A | CA367532440 | DDC | c.4A>T (p.Asn2Tyr) | |
| 7 | g.50544082T>C | CA367532442 | DDC | c.4A>G (p.Asn2Asp) | |
| 7 | g.50544082T>G | CA367532443 | DDC | c.4A>C (p.Asn2His) | |
| 7 | g.50544083C>A | CA367532444 | DDC | c.3G>T (p.Met1Ile) | gnomAD v4 |
| 7 | g.50544083C>G | CA367532446 | DDC | c.3G>C (p.Met1Ile) | |
| 7 | g.50544083C>T | CA367532448 | DDC | c.3G>A (p.Met1Ile) | |
| 7 | g.50544084A= | CA1706653947 | DDC | c.2T= (p.Met1=) | |
| 7 | g.50544084A>C | CA367532451 | DDC | c.2T>G (p.Met1Arg) | gnomAD v4 |
| 7 | g.50544084A>G | CA367532454 | DDC | c.2T>C (p.Met1Thr) | |
| 7 | g.50544084A>T | CA367532453 | DDC | c.2T>A (p.Met1Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544085T>A | CA367532456 | DDC | c.1A>T (p.Met1Leu) | |
| 7 | g.50544085T>C | CA4262526 | DDC | c.1A>G (p.Met1Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50544085T>G | CA367532458 | DDC | c.1A>C (p.Met1Leu) | |
| 7 | g.50544085T= | CA1706653948 | DDC | c.1A= (p.Met1=) | |
| 7 | g.50544086G>A | CA2682813292 | DDC | c.-1C>T (n.-1C>T) | gnomAD v4 |
| 7 | g.50544086G>T | CA2682813293 | DDC | c.-1C>A (n.-1C>A) | gnomAD v4 |
| 7 | g.50544087G>A | CA2682813294 | DDC | c.-2C>T (n.-2C>T) | gnomAD v4 |
| 7 | g.50544089G>A | CA2682813295 | DDC | c.-4C>T (n.-4C>T) | gnomAD v4 |
| 7 | g.50544091C>T | CA2578891653 | DDC | c.-6G>A (n.-6G>A) | gnomAD v4 |
| 7 | g.50544093_50544094insC | CA651109405 | DDC | c.-9_-8insG (n.-9_-8insG) | COSMIC |
| 7 | g.50544094G>A | CA2682813296 | DDC | c.-9C>T (n.-9C>T) | gnomAD v4 |
| 7 | g.50544094G>C | CA4262527 | DDC | c.-9C>G (n.-9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50544094G= | CA1706653949 | DDC | c.-9C= (n.-9C=) | |
| 7 | g.50544095G>A | CA2528398862 | DDC | c.-10C>T (n.-10C>T) | |
| 7 | g.50544095G>T | CA2578891654 | DDC | c.-10C>A (n.-10C>A) | gnomAD v4 |
| 7 | g.50544096C>T | CA2682813297 | DDC | c.-11G>A (n.-11G>A) | gnomAD v4 |
| 7 | g.50544098C>A | CA574695458 | DDC | c.-13G>T (n.-13G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50544098C= | CA1706653950 | DDC | c.-13G= (n.-13G=) | |
| 7 | g.50544100G>A | CA1101206737 | DDC | c.-15C>T (n.-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50544100G= | CA1706653951 | DDC | c.-15C= (n.-15C=) | |
| 7 | g.50544101T>C | CA2578891655 | DDC | c.-16A>G (n.-16A>G) | |
| 7 | g.50544103A>G | CA2682813298 | DDC | c.-18T>C (n.-18T>C) | gnomAD v4 |
| 7 | g.50544106G>A | CA839353767 | DDC | c.-21C>T (n.-21C>T) | dbSNP gnomAD v4 |
| 7 | g.50544106G= | CA1706653952 | DDC | c.-21C= (n.-21C=) | |
| 7 | g.50544108T>C | CA2682813299 | DDC | c.-23A>G (n.-23A>G) | gnomAD v4 |
| 7 | g.50544109G>A | CA2682813300 | DDC | c.-24C>T (n.-24C>T) | gnomAD v4 |
| 7 | g.50544111A>C | CA2682813301 | DDC | c.-26T>G (n.-26T>G) | gnomAD v4 |
| 7 | g.50544112A>G | CA2578891656 | DDC | c.-27T>C (n.-27T>C) | |
| 7 | g.50544113_50544114insATG | CA2714495652 | DDC | c.-28-1_-28insCAT (n.-28-1_-28insCAT) c.-29_-28insCAT (n.-29_-28insCAT) | dbSNP |
| 7 | g.50544114del | CA2682813302 | DDC | c.-28-1del (n.-28-1del) c.-29del (n.-29del) | gnomAD v4 |
| 7 | g.50544114C>A | CA574695448 | DDC | c.-28-1G>T (n.-28-1G>T) c.-29G>T (n.-29G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.50544114C= | CA1706653953 | DDC | c.-28-1G= (n.-28-1G=) c.-29G= (n.-29G=) | |
| 7 | g.50544115T>C | CA839353770 | DDC | c.-28-2A>G (n.-28-2A>G) c.-30A>G (n.-30A>G) | dbSNP gnomAD v4 |
| 7 | g.50544115T>G | CA574695449 | DDC | c.-28-2A>C (n.-28-2A>C) c.-30A>C (n.-30A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50544115T= | CA1706653954 | DDC | c.-28-2A= (n.-28-2A=) c.-30A= (n.-30A=) |