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 |
|---|---|---|---|---|---|
| 13 | g.23203691del | CA6909545 | SGCG | c.1-4del (n.1-4del) c.55-4del (n.55-4del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203692C>A | CA2622326025 | SGCG | c.1-3C>A (n.1-3C>A) c.55-3C>A (n.55-3C>A) | gnomAD v4 |
| 13 | g.23203692C= | CA2078579899 | SGCG | c.1-3C= (n.1-3C=) c.55-3C= (n.55-3C=) | |
| 13 | g.23203692C>T | CA6909546 | SGCG | c.1-3C>T (n.1-3C>T) c.55-3C>T (n.55-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203695A>C | CA387502259 | SGCG | c.1A>C (p.Met1Leu) c.55A>C (p.Met19Leu) | |
| 13 | g.23203695A>G | CA387502260 | SGCG | c.1A>G (p.Met1Val) c.55A>G (p.Met19Val) | gnomAD v4 |
| 13 | g.23203695A>T | CA387502261 | SGCG | c.1A>T (p.Met1Leu) c.55A>T (p.Met19Leu) | |
| 13 | g.23203696T>A | CA387502262 | SGCG | c.2T>A (p.Met1Lys) c.56T>A (p.Met19Lys) | |
| 13 | g.23203696T>C | CA387502263 | SGCG | c.2T>C (p.Met1Thr) c.56T>C (p.Met19Thr) | |
| 13 | g.23203696T>G | CA387502264 | SGCG | c.2T>G (p.Met1Arg) c.56T>G (p.Met19Arg) | gnomAD v4 |
| 13 | g.23203697G>A | CA387502265 | SGCG | c.3G>A (p.Met1Ile) c.57G>A (p.Met19Ile) | |
| 13 | g.23203697G>C | CA387502266 | SGCG | c.3G>C (p.Met1Ile) c.57G>C (p.Met19Ile) | |
| 13 | g.23203697G>T | CA387502267 | SGCG | c.3G>T (p.Met1Ile) c.57G>T (p.Met19Ile) | |
| 13 | g.23203698G>A | CA387502268 | SGCG | c.4G>A (p.Val2Met) c.58G>A (p.Val20Met) | gnomAD v4 |
| 13 | g.23203698G>C | CA387502269 | SGCG | c.4G>C (p.Val2Leu) c.58G>C (p.Val20Leu) | |
| 13 | g.23203698G>T | CA387502270 | SGCG | c.4G>T (p.Val2Leu) c.58G>T (p.Val20Leu) | |
| 13 | g.23203699T>A | CA387502273 | SGCG | c.5T>A (p.Val2Glu) c.59T>A (p.Val20Glu) | |
| 13 | g.23203699T>C | CA387502271 | SGCG | c.5T>C (p.Val2Ala) c.59T>C (p.Val20Ala) | ClinVar |
| 13 | g.23203699T>G | CA387502272 | SGCG | c.5T>G (p.Val2Gly) c.59T>G (p.Val20Gly) | |
| 13 | g.23203700G>A | CA482903120 | SGCG | c.6G>A (p.Val2=) c.60G>A (p.Val20=) | gnomAD v4 |
| 13 | g.23203700G>C | CA482903121 | SGCG | c.6G>C (p.Val2=) c.60G>C (p.Val20=) | |
| 13 | g.23203700G>T | CA482903122 | SGCG | c.6G>T (p.Val2=) c.60G>T (p.Val20=) | |
| 13 | g.23203701C>A | CA387502274 | SGCG | c.7C>A (p.Arg3Ser) c.61C>A (p.Arg21Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203701C= | CA2078579900 | SGCG | c.7C= (p.Arg3=) c.61C= (p.Arg21=) | |
| 13 | g.23203701C>G | CA387502275 | SGCG | c.7C>G (p.Arg3Gly) c.61C>G (p.Arg21Gly) | |
| 13 | g.23203701C>T | CA246628876 | SGCG | c.7C>T (p.Arg3Cys) c.61C>T (p.Arg21Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.23203702G>A | CA6909547 | SGCG | c.8G>A (p.Arg3His) c.62G>A (p.Arg21His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203702G>C | CA387502276 | SGCG | c.8G>C (p.Arg3Pro) c.62G>C (p.Arg21Pro) | |
| 13 | g.23203702G= | CA2078579901 | SGCG | c.8G= (p.Arg3=) c.62G= (p.Arg21=) | |
| 13 | g.23203702G>T | CA387502277 | SGCG | c.8G>T (p.Arg3Leu) c.62G>T (p.Arg21Leu) | gnomAD v4 COSMIC |
| 13 | g.23203703T>A | CA482903123 | SGCG | c.9T>A (p.Arg3=) c.63T>A (p.Arg21=) | |
| 13 | g.23203703T>C | CA482903124 | SGCG | c.9T>C (p.Arg3=) c.63T>C (p.Arg21=) | |
| 13 | g.23203703T>G | CA482903125 | SGCG | c.9T>G (p.Arg3=) c.63T>G (p.Arg21=) | |
| 13 | g.23203704G>A | CA387502278 | SGCG | c.10G>A (p.Glu4Lys) c.64G>A (p.Glu22Lys) | COSMIC |
| 13 | g.23203704G>C | CA387502279 | SGCG | c.10G>C (p.Glu4Gln) c.64G>C (p.Glu22Gln) | gnomAD v4 |
| 13 | g.23203704G>T | CA387502280 | SGCG | c.10G>T (p.Glu4Ter) c.64G>T (p.Glu22Ter) | ClinVar gnomAD v4 |
| 13 | g.23203705A= | CA2078579902 | SGCG | c.11A= (p.Glu4=) c.65A= (p.Glu22=) | |
| 13 | g.23203705A>C | CA387502281 | SGCG | c.11A>C (p.Glu4Ala) c.65A>C (p.Glu22Ala) | dbSNP gnomAD v4 |
| 13 | g.23203705A>G | CA387502282 | SGCG | c.11A>G (p.Glu4Gly) c.65A>G (p.Glu22Gly) | gnomAD v4 |
| 13 | g.23203705A>T | CA387502283 | SGCG | c.11A>T (p.Glu4Val) c.65A>T (p.Glu22Val) | |
| 13 | g.23203706G>A | CA482903126 | SGCG | c.12G>A (p.Glu4=) c.66G>A (p.Glu22=) | |
| 13 | g.23203706G>C | CA387502284 | SGCG | c.12G>C (p.Glu4Asp) c.66G>C (p.Glu22Asp) | |
| 13 | g.23203706G= | CA2078579903 | SGCG | c.12G= (p.Glu4=) c.66G= (p.Glu22=) | |
| 13 | g.23203706G>T | CA6909548 | SGCG | c.12G>T (p.Glu4Asp) c.66G>T (p.Glu22Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203707del | CA2695217695 | SGCG | c.13del (p.Gln5SerfsTer11) c.67del (p.Gln23SerfsTer11) | |
| 13 | g.23203707C>A | CA387502285 | SGCG | c.13C>A (p.Gln5Lys) c.67C>A (p.Gln23Lys) | |
| 13 | g.23203707C>G | CA387502287 | SGCG | c.13C>G (p.Gln5Glu) c.67C>G (p.Gln23Glu) | |
| 13 | g.23203707C>T | CA387502286 | SGCG | c.13C>T (p.Gln5Ter) c.67C>T (p.Gln23Ter) | |
| 13 | g.23203707_23203708delinsCA | CA2078579904 | SGCG | c.13_14delinsCA (p.Gln5=) c.67_68delinsCA (p.Gln23=) | |
| 13 | g.23203708del | CA6909549 | SGCG | c.14del (p.Gln5ArgfsTer11) c.68del (p.Gln23ArgfsTer11) | dbSNP ExAC gnomAD v2 |
| 13 | g.23203708A= | CA2078579905 | SGCG | c.14A= (p.Gln5=) c.68A= (p.Gln23=) | |
| 13 | g.23203708A>C | CA387502288 | SGCG | c.14A>C (p.Gln5Pro) c.68A>C (p.Gln23Pro) | |
| 13 | g.23203708A>G | CA387502289 | SGCG | c.14A>G (p.Gln5Arg) c.68A>G (p.Gln23Arg) | dbSNP gnomAD v4 |
| 13 | g.23203708A>T | CA387502290 | SGCG | c.14A>T (p.Gln5Leu) c.68A>T (p.Gln23Leu) | |
| 13 | g.23203709_23203711dup | CA2622326026 | SGCG | c.15_17dup (p.Tyr6Ter) c.69_71dup (p.Tyr24Ter) | gnomAD v4 |
| 13 | g.23203709del | CA387502292 | SGCG | c.15del (p.Gln5HisfsTer11) c.69del (p.Gln23HisfsTer11) | |
| 13 | g.23203709G>A | CA482903127 | SGCG | c.15G>A (p.Gln5=) c.69G>A (p.Gln23=) | |
| 13 | g.23203709G>C | CA387502293 | SGCG | c.15G>C (p.Gln5His) c.69G>C (p.Gln23His) | |
| 13 | g.23203709G>T | CA387502291 | SGCG | c.15G>T (p.Gln5His) c.69G>T (p.Gln23His) | |
| 13 | g.23203710T>A | CA387502294 | SGCG | c.16T>A (p.Tyr6Asn) c.70T>A (p.Tyr24Asn) | |
| 13 | g.23203710T>C | CA387502295 | SGCG | c.16T>C (p.Tyr6His) c.70T>C (p.Tyr24His) | |
| 13 | g.23203710T>G | CA387502296 | SGCG | c.16T>G (p.Tyr6Asp) c.70T>G (p.Tyr24Asp) | |
| 13 | g.23203711A= | CA2078579906 | SGCG | c.17A= (p.Tyr6=) c.71A= (p.Tyr24=) | |
| 13 | g.23203711A>C | CA387502297 | SGCG | c.17A>C (p.Tyr6Ser) c.71A>C (p.Tyr24Ser) | |
| 13 | g.23203711A>G | CA6909550 | SGCG | c.17A>G (p.Tyr6Cys) c.71A>G (p.Tyr24Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203711A>T | CA387502298 | SGCG | c.17A>T (p.Tyr6Phe) c.71A>T (p.Tyr24Phe) | |
| 13 | g.23203712C>A | CA387502299 | SGCG | c.18C>A (p.Tyr6Ter) c.72C>A (p.Tyr24Ter) | |
| 13 | g.23203712C>G | CA387502300 | SGCG | c.18C>G (p.Tyr6Ter) c.72C>G (p.Tyr24Ter) | |
| 13 | g.23203712C>T | CA482903128 | SGCG | c.18C>T (p.Tyr6=) c.72C>T (p.Tyr24=) | |
| 13 | g.23203713A= | CA2078579907 | SGCG | c.19A= (p.Thr7=) c.73A= (p.Thr25=) | |
| 13 | g.23203713A>C | CA387502301 | SGCG | c.19A>C (p.Thr7Pro) c.73A>C (p.Thr25Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203713A>G | CA6909551 | SGCG | c.19A>G (p.Thr7Ala) c.73A>G (p.Thr25Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203713A>T | CA387502302 | SGCG | c.19A>T (p.Thr7Ser) c.73A>T (p.Thr25Ser) | |
| 13 | g.23203714C>A | CA387502303 | SGCG | c.20C>A (p.Thr7Asn) c.74C>A (p.Thr25Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203714C= | CA2078579908 | SGCG | c.20C= (p.Thr7=) c.74C= (p.Thr25=) | |
| 13 | g.23203714C>G | CA387502305 | SGCG | c.20C>G (p.Thr7Ser) c.74C>G (p.Thr25Ser) | |
| 13 | g.23203714C>T | CA387502304 | SGCG | c.20C>T (p.Thr7Ile) c.74C>T (p.Thr25Ile) | |
| 13 | g.23203715T>A | CA482903129 | SGCG | c.21T>A (p.Thr7=) c.75T>A (p.Thr25=) | |
| 13 | g.23203715T>C | CA482903130 | SGCG | c.21T>C (p.Thr7=) c.75T>C (p.Thr25=) | |
| 13 | g.23203715T>G | CA482903131 | SGCG | c.21T>G (p.Thr7=) c.75T>G (p.Thr25=) | |
| 13 | g.23203716A= | CA2078579909 | SGCG | c.22A= (p.Thr8=) c.76A= (p.Thr26=) | |
| 13 | g.23203716A>C | CA387502306 | SGCG | c.22A>C (p.Thr8Pro) c.76A>C (p.Thr26Pro) | |
| 13 | g.23203716A>G | CA6909552 | SGCG | c.22A>G (p.Thr8Ala) c.76A>G (p.Thr26Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203716A>T | CA387502307 | SGCG | c.22A>T (p.Thr8Ser) c.76A>T (p.Thr26Ser) | |
| 13 | g.23203717C>A | CA387502308 | SGCG | c.23C>A (p.Thr8Lys) c.77C>A (p.Thr26Lys) | |
| 13 | g.23203717C>G | CA387502309 | SGCG | c.23C>G (p.Thr8Arg) c.77C>G (p.Thr26Arg) | |
| 13 | g.23203717C>T | CA387502310 | SGCG | c.23C>T (p.Thr8Ile) c.77C>T (p.Thr26Ile) | gnomAD v4 |
| 13 | g.23203718A= | CA2078579910 | SGCG | c.24A= (p.Thr8=) c.78A= (p.Thr26=) | |
| 13 | g.23203718A>C | CA482903133 | SGCG | c.24A>C (p.Thr8=) c.78A>C (p.Thr26=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203718A>G | CA482903134 | SGCG | c.24A>G (p.Thr8=) c.78A>G (p.Thr26=) | |
| 13 | g.23203718A>T | CA482903135 | SGCG | c.24A>T (p.Thr8=) c.78A>T (p.Thr26=) | gnomAD v4 |
| 13 | g.23203719G>A | CA387502311 | SGCG | c.25G>A (p.Ala9Thr) c.79G>A (p.Ala27Thr) | COSMIC |
| 13 | g.23203719G>C | CA387502312 | SGCG | c.25G>C (p.Ala9Pro) c.79G>C (p.Ala27Pro) | |
| 13 | g.23203719G>T | CA387502313 | SGCG | c.25G>T (p.Ala9Ser) c.79G>T (p.Ala27Ser) | |
| 13 | g.23203720C>A | CA387502315 | SGCG | c.26C>A (p.Ala9Asp) c.80C>A (p.Ala27Asp) | |
| 13 | g.23203720C= | CA2078579911 | SGCG | c.26C= (p.Ala9=) c.80C= (p.Ala27=) | |
| 13 | g.23203720C>G | CA387502314 | SGCG | c.26C>G (p.Ala9Gly) c.80C>G (p.Ala27Gly) | COSMIC |
| 13 | g.23203720C>T | CA6909553 | SGCG | c.26C>T (p.Ala9Val) c.80C>T (p.Ala27Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203721C>A | CA482903136 | SGCG | c.27C>A (p.Ala9=) c.81C>A (p.Ala27=) | |
| 13 | g.23203721C= | CA2078579912 | SGCG | c.27C= (p.Ala9=) c.81C= (p.Ala27=) | |
| 13 | g.23203721C>G | CA482903137 | SGCG | c.27C>G (p.Ala9=) c.81C>G (p.Ala27=) | |
| 13 | g.23203721C>T | CA246628917 | SGCG | c.27C>T (p.Ala9=) c.81C>T (p.Ala27=) | ClinVar dbSNP |
| 13 | g.23203722A>C | CA387502316 | SGCG | c.28A>C (p.Thr10Pro) c.82A>C (p.Thr28Pro) | |
| 13 | g.23203722A>G | CA387502317 | SGCG | c.28A>G (p.Thr10Ala) c.82A>G (p.Thr28Ala) | gnomAD v4 |
| 13 | g.23203722A>T | CA387502318 | SGCG | c.28A>T (p.Thr10Ser) c.82A>T (p.Thr28Ser) | |
| 13 | g.23203723C>A | CA387502319 | SGCG | c.29C>A (p.Thr10Lys) c.83C>A (p.Thr28Lys) | |
| 13 | g.23203723C>G | CA387502320 | SGCG | c.29C>G (p.Thr10Arg) c.83C>G (p.Thr28Arg) | |
| 13 | g.23203723C>T | CA387502321 | SGCG | c.29C>T (p.Thr10Ile) c.83C>T (p.Thr28Ile) | |
| 13 | g.23203724A>C | CA482903138 | SGCG | c.30A>C (p.Thr10=) c.84A>C (p.Thr28=) | |
| 13 | g.23203724A>G | CA482903139 | SGCG | c.30A>G (p.Thr10=) c.84A>G (p.Thr28=) | |
| 13 | g.23203724A>T | CA482903140 | SGCG | c.30A>T (p.Thr10=) c.84A>T (p.Thr28=) | |
| 13 | g.23203725G>A | CA387502322 | SGCG | c.31G>A (p.Glu11Lys) c.85G>A (p.Glu29Lys) | |
| 13 | g.23203725G>C | CA387502323 | SGCG | c.31G>C (p.Glu11Gln) c.85G>C (p.Glu29Gln) | |
| 13 | g.23203725G>T | CA387502324 | SGCG | c.31G>T (p.Glu11Ter) c.85G>T (p.Glu29Ter) | COSMIC |
| 13 | g.23203726A>C | CA387502325 | SGCG | c.32A>C (p.Glu11Ala) c.86A>C (p.Glu29Ala) | |
| 13 | g.23203726A>G | CA387502326 | SGCG | c.32A>G (p.Glu11Gly) c.86A>G (p.Glu29Gly) | gnomAD v4 |
| 13 | g.23203726A>T | CA387502327 | SGCG | c.32A>T (p.Glu11Val) c.86A>T (p.Glu29Val) | |
| 13 | g.23203727A>C | CA387502328 | SGCG | c.33A>C (p.Glu11Asp) c.87A>C (p.Glu29Asp) | |
| 13 | g.23203727A>G | CA482903141 | SGCG | c.33A>G (p.Glu11=) c.87A>G (p.Glu29=) | |
| 13 | g.23203727A>T | CA387502329 | SGCG | c.33A>T (p.Glu11Asp) c.87A>T (p.Glu29Asp) | |
| 13 | g.23203728G>A | CA6909554 | SGCG | c.34G>A (p.Gly12Ser) c.88G>A (p.Gly30Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203728G>C | CA387502330 | SGCG | c.34G>C (p.Gly12Arg) c.88G>C (p.Gly30Arg) | |
| 13 | g.23203728G= | CA2078579913 | SGCG | c.34G= (p.Gly12=) c.88G= (p.Gly30=) | |
| 13 | g.23203728G>T | CA387502331 | SGCG | c.34G>T (p.Gly12Cys) c.88G>T (p.Gly30Cys) | |
| 13 | g.23203729G>A | CA387502332 | SGCG | c.35G>A (p.Gly12Asp) c.89G>A (p.Gly30Asp) | gnomAD v4 |
| 13 | g.23203729G>C | CA387502333 | SGCG | c.35G>C (p.Gly12Ala) c.89G>C (p.Gly30Ala) | |
| 13 | g.23203729G>T | CA387502334 | SGCG | c.35G>T (p.Gly12Val) c.89G>T (p.Gly30Val) | |
| 13 | g.23203730C>A | CA482903142 | SGCG | c.36C>A (p.Gly12=) c.90C>A (p.Gly30=) | |
| 13 | g.23203730C>G | CA482903143 | SGCG | c.36C>G (p.Gly12=) c.90C>G (p.Gly30=) | |
| 13 | g.23203730C>T | CA482903144 | SGCG | c.36C>T (p.Gly12=) c.90C>T (p.Gly30=) | gnomAD v4 |
| 13 | g.23203731A= | CA2078579914 | SGCG | c.37A= (p.Ile13=) c.91A= (p.Ile31=) | |
| 13 | g.23203731A>C | CA387502335 | SGCG | c.37A>C (p.Ile13Leu) c.91A>C (p.Ile31Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203731A>G | CA387502336 | SGCG | c.37A>G (p.Ile13Val) c.91A>G (p.Ile31Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203731A>T | CA387502337 | SGCG | c.37A>T (p.Ile13Phe) c.91A>T (p.Ile31Phe) | |
| 13 | g.23203732T>A | CA387502338 | SGCG | c.38T>A (p.Ile13Asn) c.92T>A (p.Ile31Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203732T>C | CA387502339 | SGCG | c.38T>C (p.Ile13Thr) c.92T>C (p.Ile31Thr) | COSMIC |
| 13 | g.23203732T>G | CA387502340 | SGCG | c.38T>G (p.Ile13Ser) c.92T>G (p.Ile31Ser) | |
| 13 | g.23203732T= | CA2078579915 | SGCG | c.38T= (p.Ile13=) c.92T= (p.Ile31=) | |
| 13 | g.23203733C>A | CA482903146 | SGCG | c.39C>A (p.Ile13=) c.93C>A (p.Ile31=) | |
| 13 | g.23203733C>G | CA387502341 | SGCG | c.39C>G (p.Ile13Met) c.93C>G (p.Ile31Met) | |
| 13 | g.23203733C>T | CA482903147 | SGCG | c.39C>T (p.Ile13=) c.93C>T (p.Ile31=) | gnomAD v4 |
| 13 | g.23203734del | CA2622326027 | SGCG | c.40del (p.Cys14AlafsTer2) c.94del (p.Cys32AlafsTer2) | gnomAD v4 |
| 13 | g.23203734T>A | CA387502344 | SGCG | c.40T>A (p.Cys14Ser) c.94T>A (p.Cys32Ser) | |
| 13 | g.23203734T>C | CA387502342 | SGCG | c.40T>C (p.Cys14Arg) c.94T>C (p.Cys32Arg) | |
| 13 | g.23203734T>G | CA387502343 | SGCG | c.40T>G (p.Cys14Gly) c.94T>G (p.Cys32Gly) | |
| 13 | g.23203735G>A | CA387502345 | SGCG | c.41G>A (p.Cys14Tyr) c.95G>A (p.Cys32Tyr) | |
| 13 | g.23203735G>C | CA387502346 | SGCG | c.41G>C (p.Cys14Ser) c.95G>C (p.Cys32Ser) | |
| 13 | g.23203735G>T | CA387502347 | SGCG | c.41G>T (p.Cys14Phe) c.95G>T (p.Cys32Phe) | |
| 13 | g.23203736C>A | CA387502348 | SGCG | c.42C>A (p.Cys14Ter) c.96C>A (p.Cys32Ter) | |
| 13 | g.23203736C= | CA2078579916 | SGCG | c.42C= (p.Cys14=) c.96C= (p.Cys32=) | |
| 13 | g.23203736C>G | CA387502349 | SGCG | c.42C>G (p.Cys14Trp) c.96C>G (p.Cys32Trp) | |
| 13 | g.23203736C>T | CA482903148 | SGCG | c.42C>T (p.Cys14=) c.96C>T (p.Cys32=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203737A= | CA2078579917 | SGCG | c.43A= (p.Ile15=) c.97A= (p.Ile33=) | |
| 13 | g.23203737A>C | CA387502350 | SGCG | c.43A>C (p.Ile15Leu) c.97A>C (p.Ile33Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203737A>G | CA387502352 | SGCG | c.43A>G (p.Ile15Val) c.97A>G (p.Ile33Val) | gnomAD v4 |
| 13 | g.23203737A>T | CA387502351 | SGCG | c.43A>T (p.Ile15Leu) c.97A>T (p.Ile33Leu) | |
| 13 | g.23203738T>A | CA387502353 | SGCG | c.44T>A (p.Ile15Lys) c.98T>A (p.Ile33Lys) | |
| 13 | g.23203738T>C | CA387502354 | SGCG | c.44T>C (p.Ile15Thr) c.98T>C (p.Ile33Thr) | ClinVar dbSNP |
| 13 | g.23203738T>G | CA387502356 | SGCG | c.44T>G (p.Ile15Arg) c.98T>G (p.Ile33Arg) | |
| 13 | g.23203738T= | CA2078579918 | SGCG | c.44T= (p.Ile15=) c.98T= (p.Ile33=) | |
| 13 | g.23203739A>C | CA482903149 | SGCG | c.45A>C (p.Ile15=) c.99A>C (p.Ile33=) | |
| 13 | g.23203739A>G | CA387502357 | SGCG | c.45A>G (p.Ile15Met) c.99A>G (p.Ile33Met) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203739A>T | CA482903150 | SGCG | c.45A>T (p.Ile15=) c.99A>T (p.Ile33=) | |
| 13 | g.23203743_23203744del | CA2622326028 | SGCG | c.49_50del (p.Arg17AlafsTer?) c.103_104del (p.Arg35AlafsTer?) | gnomAD v4 |
| 13 | g.23203740G>A | CA6909556 | SGCG | c.46G>A (p.Glu16Lys) c.100G>A (p.Glu34Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203740G>C | CA6909555 | SGCG | c.46G>C (p.Glu16Gln) c.100G>C (p.Glu34Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203740G= | CA2078579919 | SGCG | c.46G= (p.Glu16=) c.100G= (p.Glu34=) | |
| 13 | g.23203740G>T | CA387502358 | SGCG | c.46G>T (p.Glu16Ter) c.100G>T (p.Glu34Ter) | |
| 13 | g.23203741A= | CA2078579920 | SGCG | c.47A= (p.Glu16=) c.101A= (p.Glu34=) | |
| 13 | g.23203741A>C | CA387502359 | SGCG | c.47A>C (p.Glu16Ala) c.101A>C (p.Glu34Ala) | |
| 13 | g.23203741A>G | CA246628928 | SGCG | c.47A>G (p.Glu16Gly) c.101A>G (p.Glu34Gly) | dbSNP gnomAD v4 |
| 13 | g.23203741A>T | CA387502360 | SGCG | c.47A>T (p.Glu16Val) c.101A>T (p.Glu34Val) | |
| 13 | g.23203742G>A | CA482903151 | SGCG | c.48G>A (p.Glu16=) c.102G>A (p.Glu34=) | gnomAD v4 |
| 13 | g.23203742G>C | CA387502361 | SGCG | c.48G>C (p.Glu16Asp) c.102G>C (p.Glu34Asp) | |
| 13 | g.23203742G>T | CA387502362 | SGCG | c.48G>T (p.Glu16Asp) c.102G>T (p.Glu34Asp) | |
| 13 | g.23203743A= | CA2078579921 | SGCG | c.49A= (p.Arg17=) c.103A= (p.Arg35=) | |
| 13 | g.23203743A>C | CA482903152 | SGCG | c.49A>C (p.Arg17=) c.103A>C (p.Arg35=) | dbSNP |
| 13 | g.23203743A>G | CA387502363 | SGCG | c.49A>G (p.Arg17Gly) c.103A>G (p.Arg35Gly) | |
| 13 | g.23203743A>T | CA387502364 | SGCG | c.49A>T (p.Arg17Trp) c.103A>T (p.Arg35Trp) | |
| 13 | g.23203744G>A | CA387502365 | SGCG | c.50G>A (p.Arg17Lys) c.104G>A (p.Arg35Lys) | gnomAD v4 |
| 13 | g.23203744G>C | CA387502366 | SGCG | c.50G>C (p.Arg17Thr) c.104G>C (p.Arg35Thr) | |
| 13 | g.23203744G>T | CA387502367 | SGCG | c.50G>T (p.Arg17Met) c.104G>T (p.Arg35Met) | |
| 13 | g.23203745G>A | CA482903153 | SGCG | c.51G>A (p.Arg17=) c.105G>A (p.Arg35=) | |
| 13 | g.23203745G>C | CA387502368 | SGCG | c.51G>C (p.Arg17Ser) c.105G>C (p.Arg35Ser) | |
| 13 | g.23203745G>T | CA387502369 | SGCG | c.51G>T (p.Arg17Ser) c.105G>T (p.Arg35Ser) | |
| 13 | g.23203746C>A | CA6909557 | SGCG | c.52C>A (p.Pro18Thr) c.106C>A (p.Pro36Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203746C= | CA2078579922 | SGCG | c.52C= (p.Pro18=) c.106C= (p.Pro36=) | |
| 13 | g.23203746C>G | CA387502371 | SGCG | c.52C>G (p.Pro18Ala) c.106C>G (p.Pro36Ala) | |
| 13 | g.23203746C>T | CA387502370 | SGCG | c.52C>T (p.Pro18Ser) c.106C>T (p.Pro36Ser) | gnomAD v4 |
| 13 | g.23203747C>A | CA387502372 | SGCG | c.53C>A (p.Pro18Gln) c.107C>A (p.Pro36Gln) | |
| 13 | g.23203747C>G | CA387502373 | SGCG | c.53C>G (p.Pro18Arg) c.107C>G (p.Pro36Arg) | |
| 13 | g.23203747C>T | CA387502374 | SGCG | c.53C>T (p.Pro18Leu) c.107C>T (p.Pro36Leu) | |
| 13 | g.23203748A>C | CA482903156 | SGCG | c.54A>C (p.Pro18=) c.108A>C (p.Pro36=) | |
| 13 | g.23203748A>G | CA482903154 | SGCG | c.54A>G (p.Pro18=) c.108A>G (p.Pro36=) | |
| 13 | g.23203748A>T | CA482903155 | SGCG | c.54A>T (p.Pro18=) c.108A>T (p.Pro36=) | |
| 13 | g.23203749G>A | CA387502375 | SGCG | c.55G>A (p.Glu19Lys) c.109G>A (p.Glu37Lys) | |
| 13 | g.23203749G>C | CA387502376 | SGCG | c.55G>C (p.Glu19Gln) c.109G>C (p.Glu37Gln) | gnomAD v4 |
| 13 | g.23203749G>T | CA387502377 | SGCG | c.55G>T (p.Glu19Ter) c.109G>T (p.Glu37Ter) | |
| 13 | g.23203750A= | CA2078579923 | SGCG | c.56A= (p.Glu19=) c.110A= (p.Glu37=) | |
| 13 | g.23203750A>C | CA387502378 | SGCG | c.56A>C (p.Glu19Ala) c.110A>C (p.Glu37Ala) | |
| 13 | g.23203750A>G | CA6909558 | SGCG | c.56A>G (p.Glu19Gly) c.110A>G (p.Glu37Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203750A>T | CA387502379 | SGCG | c.56A>T (p.Glu19Val) c.110A>T (p.Glu37Val) | |
| 13 | g.23203751G>A | CA246628929 | SGCG | c.57G>A (p.Glu19=) c.111G>A (p.Glu37=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203751G>C | CA387502380 | SGCG | c.57G>C (p.Glu19Asp) c.111G>C (p.Glu37Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203751G= | CA2078579924 | SGCG | c.57G= (p.Glu19=) c.111G= (p.Glu37=) | |
| 13 | g.23203751G>T | CA6909559 | SGCG | c.57G>T (p.Glu19Asp) c.111G>T (p.Glu37Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.23203752A= | CA2078579925 | SGCG | c.58A= (p.Asn20=) c.112A= (p.Asn38=) | |
| 13 | g.23203752A>C | CA387502382 | SGCG | c.58A>C (p.Asn20His) c.112A>C (p.Asn38His) | |
| 13 | g.23203752A>G | CA241313 | SGCG | c.58A>G (p.Asn20Asp) c.112A>G (p.Asn38Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203752A>T | CA387502381 | SGCG | c.58A>T (p.Asn20Tyr) c.112A>T (p.Asn38Tyr) | |
| 13 | g.23203753dup | CA2695217696 | SGCG | c.59dup (p.Asn20LysfsTer?) c.113dup (p.Asn38LysfsTer?) | |
| 13 | g.23203753A>C | CA387502383 | SGCG | c.59A>C (p.Asn20Thr) c.113A>C (p.Asn38Thr) | |
| 13 | g.23203753A>G | CA387502384 | SGCG | c.59A>G (p.Asn20Ser) c.113A>G (p.Asn38Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203753A>T | CA387502385 | SGCG | c.59A>T (p.Asn20Ile) c.113A>T (p.Asn38Ile) | |
| 13 | g.23203754T>A | CA387502386 | SGCG | c.60T>A (p.Asn20Lys) c.114T>A (p.Asn38Lys) | |
| 13 | g.23203754T>C | CA482903157 | SGCG | c.60T>C (p.Asn20=) c.114T>C (p.Asn38=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203754T>G | CA387502387 | SGCG | c.60T>G (p.Asn20Lys) c.114T>G (p.Asn38Lys) | |
| 13 | g.23203754T= | CA2078579926 | SGCG | c.60T= (p.Asn20=) c.114T= (p.Asn38=) | |
| 13 | g.23203754_23203755insA | CA2695217697 | SGCG | c.60_61insA (p.Gln21ThrfsTer?) c.114_115insA (p.Gln39ThrfsTer?) | |
| 13 | g.23203755C>A | CA387502388 | SGCG | c.61C>A (p.Gln21Lys) c.115C>A (p.Gln39Lys) | |
| 13 | g.23203755C>G | CA387502389 | SGCG | c.61C>G (p.Gln21Glu) c.115C>G (p.Gln39Glu) | COSMIC |
| 13 | g.23203755C>T | CA387502390 | SGCG | c.61C>T (p.Gln21Ter) c.115C>T (p.Gln39Ter) | |
| 13 | g.23203756A>C | CA387502391 | SGCG | c.62A>C (p.Gln21Pro) c.116A>C (p.Gln39Pro) | gnomAD v4 |
| 13 | g.23203756A>G | CA387502392 | SGCG | c.62A>G (p.Gln21Arg) c.116A>G (p.Gln39Arg) | COSMIC |
| 13 | g.23203756A>T | CA387502393 | SGCG | c.62A>T (p.Gln21Leu) c.116A>T (p.Gln39Leu) | |
| 13 | g.23203757G>A | CA482903158 | SGCG | c.63G>A (p.Gln21=) c.117G>A (p.Gln39=) | ClinVar dbSNP |
| 13 | g.23203757G>C | CA387502394 | SGCG | c.63G>C (p.Gln21His) c.117G>C (p.Gln39His) | dbSNP |
| 13 | g.23203757G= | CA2078579927 | SGCG | c.63G= (p.Gln21=) c.117G= (p.Gln39=) | |
| 13 | g.23203757G>T | CA387502395 | SGCG | c.63G>T (p.Gln21His) c.117G>T (p.Gln39His) | COSMIC |
| 13 | g.23203758T>A | CA387502397 | SGCG | c.64T>A (p.Tyr22Asn) c.118T>A (p.Tyr40Asn) | |
| 13 | g.23203758T>C | CA387502398 | SGCG | c.64T>C (p.Tyr22His) c.118T>C (p.Tyr40His) | |
| 13 | g.23203758T>G | CA387502396 | SGCG | c.64T>G (p.Tyr22Asp) c.118T>G (p.Tyr40Asp) | |
| 13 | g.23203759A>C | CA387502401 | SGCG | c.65A>C (p.Tyr22Ser) c.119A>C (p.Tyr40Ser) | |
| 13 | g.23203759A>G | CA387502399 | SGCG | c.65A>G (p.Tyr22Cys) c.119A>G (p.Tyr40Cys) | |
| 13 | g.23203759A>T | CA387502400 | SGCG | c.65A>T (p.Tyr22Phe) c.119A>T (p.Tyr40Phe) | |
| 13 | g.23203760T>A | CA387502402 | SGCG | c.66T>A (p.Tyr22Ter) c.120T>A (p.Tyr40Ter) | ClinVar dbSNP |
| 13 | g.23203760T>C | CA6909560 | SGCG | c.66T>C (p.Tyr22=) c.120T>C (p.Tyr40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203760T>G | CA387502403 | SGCG | c.66T>G (p.Tyr22Ter) c.120T>G (p.Tyr40Ter) | |
| 13 | g.23203760T= | CA2078579928 | SGCG | c.66T= (p.Tyr22=) c.120T= (p.Tyr40=) | |
| 13 | g.23203761G>A | CA387502408 | SGCG | c.67G>A (p.Val23Ile) c.121G>A (p.Val41Ile) | |
| 13 | g.23203761G>C | CA387502406 | SGCG | c.67G>C (p.Val23Leu) c.121G>C (p.Val41Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203761G= | CA2078579929 | SGCG | c.67G= (p.Val23=) c.121G= (p.Val41=) | |
| 13 | g.23203761G>T | CA387502404 | SGCG | c.67G>T (p.Val23Phe) c.121G>T (p.Val41Phe) | |
| 13 | g.23203762T>A | CA387502409 | SGCG | c.68T>A (p.Val23Asp) c.122T>A (p.Val41Asp) | |
| 13 | g.23203762T>C | CA387502410 | SGCG | c.68T>C (p.Val23Ala) c.122T>C (p.Val41Ala) | |
| 13 | g.23203762T>G | CA387502411 | SGCG | c.68T>G (p.Val23Gly) c.122T>G (p.Val41Gly) | |
| 13 | g.23203763C>A | CA482903159 | SGCG | c.69C>A (p.Val23=) c.123C>A (p.Val41=) | |
| 13 | g.23203763C>G | CA482903160 | SGCG | c.69C>G (p.Val23=) c.123C>G (p.Val41=) | |
| 13 | g.23203763C>T | CA482903161 | SGCG | c.69C>T (p.Val23=) c.123C>T (p.Val41=) | ClinVar |
| 13 | g.23203764T>A | CA387502413 | SGCG | c.70T>A (p.Tyr24Asn) c.124T>A (p.Tyr42Asn) | |
| 13 | g.23203764T>C | CA387502414 | SGCG | c.70T>C (p.Tyr24His) c.124T>C (p.Tyr42His) | |
| 13 | g.23203764T>G | CA387502416 | SGCG | c.70T>G (p.Tyr24Asp) c.124T>G (p.Tyr42Asp) | |
| 13 | g.23203765A>C | CA387502419 | SGCG | c.71A>C (p.Tyr24Ser) c.125A>C (p.Tyr42Ser) | |
| 13 | g.23203765A>G | CA387502417 | SGCG | c.71A>G (p.Tyr24Cys) c.125A>G (p.Tyr42Cys) | gnomAD v4 |
| 13 | g.23203765A>T | CA387502418 | SGCG | c.71A>T (p.Tyr24Phe) c.125A>T (p.Tyr42Phe) | gnomAD v4 |
| 13 | g.23203766C>A | CA387502420 | SGCG | c.72C>A (p.Tyr24Ter) c.126C>A (p.Tyr42Ter) | |
| 13 | g.23203766C>G | CA387502421 | SGCG | c.72C>G (p.Tyr24Ter) c.126C>G (p.Tyr42Ter) | |
| 13 | g.23203766C>T | CA482903162 | SGCG | c.72C>T (p.Tyr24=) c.126C>T (p.Tyr42=) | |
| 13 | g.23203767A>C | CA387502423 | SGCG | c.73A>C (p.Lys25Gln) c.127A>C (p.Lys43Gln) | |
| 13 | g.23203767A>G | CA387502425 | SGCG | c.73A>G (p.Lys25Glu) c.127A>G (p.Lys43Glu) | COSMIC |
| 13 | g.23203767A>T | CA387502427 | SGCG | c.73A>T (p.Lys25Ter) c.127A>T (p.Lys43Ter) | |
| 13 | g.23203768A>C | CA387502429 | SGCG | c.74A>C (p.Lys25Thr) c.128A>C (p.Lys43Thr) | |
| 13 | g.23203768A>G | CA387502431 | SGCG | c.74A>G (p.Lys25Arg) c.128A>G (p.Lys43Arg) | |
| 13 | g.23203768A>T | CA387502432 | SGCG | c.74A>T (p.Lys25Ile) c.128A>T (p.Lys43Ile) | |
| 13 | g.23203769A>C | CA387502434 | SGCG | c.75A>C (p.Lys25Asn) c.129A>C (p.Lys43Asn) | |
| 13 | g.23203769A>G | CA482903163 | SGCG | c.75A>G (p.Lys25=) c.129A>G (p.Lys43=) | |
| 13 | g.23203769A>T | CA387502435 | SGCG | c.75A>T (p.Lys25Asn) c.129A>T (p.Lys43Asn) | |
| 13 | g.23203770A>C | CA387502436 | SGCG | c.76A>C (p.Ile26Leu) c.130A>C (p.Ile44Leu) | |
| 13 | g.23203770A>G | CA387502437 | SGCG | c.76A>G (p.Ile26Val) c.130A>G (p.Ile44Val) | |
| 13 | g.23203770A>T | CA387502438 | SGCG | c.76A>T (p.Ile26Phe) c.130A>T (p.Ile44Phe) | |
| 13 | g.23203771T>A | CA387502452 | SGCG | c.77T>A (p.Ile26Asn) c.131T>A (p.Ile44Asn) | |
| 13 | g.23203771T>C | CA10605173 | SGCG | c.77T>C (p.Ile26Thr) c.131T>C (p.Ile44Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203771T>G | CA387502453 | SGCG | c.77T>G (p.Ile26Ser) c.131T>G (p.Ile44Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203771T= | CA2078579930 | SGCG | c.77T= (p.Ile26=) c.131T= (p.Ile44=) | |
| 13 | g.23203772T>A | CA482903164 | SGCG | c.78T>A (p.Ile26=) c.132T>A (p.Ile44=) | |
| 13 | g.23203772T>C | CA482903165 | SGCG | c.78T>C (p.Ile26=) c.132T>C (p.Ile44=) | |
| 13 | g.23203772T>G | CA387502454 | SGCG | c.78T>G (p.Ile26Met) c.132T>G (p.Ile44Met) | |
| 13 | g.23203773G>A | CA387502456 | SGCG | c.79G>A (p.Gly27Ser) c.133G>A (p.Gly45Ser) | |
| 13 | g.23203773G>C | CA387502457 | SGCG | c.79G>C (p.Gly27Arg) c.133G>C (p.Gly45Arg) | |
| 13 | g.23203773G>T | CA387502458 | SGCG | c.79G>T (p.Gly27Cys) c.133G>T (p.Gly45Cys) | |
| 13 | g.23203774G>A | CA387502459 | SGCG | c.80G>A (p.Gly27Asp) c.134G>A (p.Gly45Asp) | |
| 13 | g.23203774G>C | CA387502461 | SGCG | c.80G>C (p.Gly27Ala) c.134G>C (p.Gly45Ala) | |
| 13 | g.23203774G>T | CA387502462 | SGCG | c.80G>T (p.Gly27Val) c.134G>T (p.Gly45Val) | COSMIC |
| 13 | g.23203775C>A | CA482903166 | SGCG | c.81C>A (p.Gly27=) c.135C>A (p.Gly45=) | |
| 13 | g.23203775C= | CA2078579931 | SGCG | c.81C= (p.Gly27=) c.135C= (p.Gly45=) | |
| 13 | g.23203775C>G | CA482903167 | SGCG | c.81C>G (p.Gly27=) c.135C>G (p.Gly45=) | |
| 13 | g.23203775C>T | CA6909561 | SGCG | c.81C>T (p.Gly27=) c.135C>T (p.Gly45=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203776del | CA2739277462 | SGCG | c.82del (p.Ile28PhefsTer22) c.136del (p.Ile46PhefsTer22) | ClinVar |
| 13 | g.23203776A= | CA2078579932 | SGCG | c.82A= (p.Ile28=) c.136A= (p.Ile46=) | |
| 13 | g.23203776A>C | CA246628948 | SGCG | c.82A>C (p.Ile28Leu) c.136A>C (p.Ile46Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203776A>G | CA387502465 | SGCG | c.82A>G (p.Ile28Val) c.136A>G (p.Ile46Val) | |
| 13 | g.23203776A>T | CA387502466 | SGCG | c.82A>T (p.Ile28Phe) c.136A>T (p.Ile46Phe) | |
| 13 | g.23203777T>A | CA387502468 | SGCG | c.83T>A (p.Ile28Asn) c.137T>A (p.Ile46Asn) | |
| 13 | g.23203777T>C | CA387502470 | SGCG | c.83T>C (p.Ile28Thr) c.137T>C (p.Ile46Thr) | gnomAD v4 |
| 13 | g.23203777T>G | CA387502472 | SGCG | c.83T>G (p.Ile28Ser) c.137T>G (p.Ile46Ser) | |
| 13 | g.23203779dup | CA2695199194 | SGCG | c.85dup (p.Tyr29LeufsTer?) c.139dup (p.Tyr47LeufsTer?) | ClinVar dbSNP |
| 13 | g.23203778T>A | CA482903169 | SGCG | c.84T>A (p.Ile28=) c.138T>A (p.Ile46=) | |
| 13 | g.23203778T>C | CA482903170 | SGCG | c.84T>C (p.Ile28=) c.138T>C (p.Ile46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203778T>G | CA246628953 | SGCG | c.84T>G (p.Ile28Met) c.138T>G (p.Ile46Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203778T= | CA2078579933 | SGCG | c.84T= (p.Ile28=) c.138T= (p.Ile46=) | |
| 13 | g.23203779T>A | CA387502476 | SGCG | c.85T>A (p.Tyr29Asn) c.139T>A (p.Tyr47Asn) | |
| 13 | g.23203779T>C | CA387502478 | SGCG | c.85T>C (p.Tyr29His) c.139T>C (p.Tyr47His) | |
| 13 | g.23203779T>G | CA387502479 | SGCG | c.85T>G (p.Tyr29Asp) c.139T>G (p.Tyr47Asp) | |
| 13 | g.23203780A= | CA2078579934 | SGCG | c.86A= (p.Tyr29=) c.140A= (p.Tyr47=) | |
| 13 | g.23203780A>C | CA387502480 | SGCG | c.86A>C (p.Tyr29Ser) c.140A>C (p.Tyr47Ser) | gnomAD v4 |
| 13 | g.23203780A>G | CA387502481 | SGCG | c.86A>G (p.Tyr29Cys) c.140A>G (p.Tyr47Cys) | gnomAD v4 |
| 13 | g.23203780A>T | CA387502483 | SGCG | c.86A>T (p.Tyr29Phe) c.140A>T (p.Tyr47Phe) | |
| 13 | g.23203781T>A | CA387502486 | SGCG | c.87T>A (p.Tyr29Ter) c.141T>A (p.Tyr47Ter) | ClinVar dbSNP |
| 13 | g.23203781T>C | CA482903171 | SGCG | c.87T>C (p.Tyr29=) c.141T>C (p.Tyr47=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203781T>G | CA387502487 | SGCG | c.87T>G (p.Tyr29Ter) c.141T>G (p.Tyr47Ter) | |
| 13 | g.23203781T= | CA2078579935 | SGCG | c.87T= (p.Tyr29=) c.141T= (p.Tyr47=) | |
| 13 | g.23203781dup | CA6909562 | SGCG | c.87dup (p.Gly30TrpfsTer30) c.141dup (p.Gly48TrpfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203782G>A | CA387502489 | SGCG | c.88G>A (p.Gly30Ser) c.142G>A (p.Gly48Ser) | |
| 13 | g.23203782G>C | CA387502494 | SGCG | c.88G>C (p.Gly30Arg) c.142G>C (p.Gly48Arg) | |
| 13 | g.23203782G>T | CA387502496 | SGCG | c.88G>T (p.Gly30Cys) c.142G>T (p.Gly48Cys) | |
| 13 | g.23203783del | CA2739277463 | SGCG | c.89del (p.Gly30AlafsTer20) c.143del (p.Gly48AlafsTer20) | ClinVar |
| 13 | g.23203783G>A | CA387502499 | SGCG | c.89G>A (p.Gly30Asp) c.143G>A (p.Gly48Asp) | gnomAD v4 COSMIC |
| 13 | g.23203783G>C | CA387502498 | SGCG | c.89G>C (p.Gly30Ala) c.143G>C (p.Gly48Ala) | |
| 13 | g.23203783G>T | CA387502497 | SGCG | c.89G>T (p.Gly30Val) c.143G>T (p.Gly48Val) | |
| 13 | g.23203784C>A | CA482903172 | SGCG | c.90C>A (p.Gly30=) c.144C>A (p.Gly48=) | COSMIC |
| 13 | g.23203784C>G | CA482903173 | SGCG | c.90C>G (p.Gly30=) c.144C>G (p.Gly48=) | |
| 13 | g.23203784C>T | CA482903174 | SGCG | c.90C>T (p.Gly30=) c.144C>T (p.Gly48=) | gnomAD v4 |
| 13 | g.23203785T>A | CA387502500 | SGCG | c.91T>A (p.Trp31Arg) c.145T>A (p.Trp49Arg) | |
| 13 | g.23203785T>C | CA387502505 | SGCG | c.91T>C (p.Trp31Arg) c.145T>C (p.Trp49Arg) | |
| 13 | g.23203785T>G | CA387502503 | SGCG | c.91T>G (p.Trp31Gly) c.145T>G (p.Trp49Gly) | |
| 13 | g.23203786G>A | CA387502506 | SGCG | c.92G>A (p.Trp31Ter) c.146G>A (p.Trp49Ter) | ClinVar gnomAD v4 COSMIC |
| 13 | g.23203786G>C | CA387502508 | SGCG | c.92G>C (p.Trp31Ser) c.146G>C (p.Trp49Ser) | |
| 13 | g.23203786G>T | CA387502509 | SGCG | c.92G>T (p.Trp31Leu) c.146G>T (p.Trp49Leu) | COSMIC |
| 13 | g.23203787G>A | CA387502512 | SGCG | c.93G>A (p.Trp31Ter) c.147G>A (p.Trp49Ter) | |
| 13 | g.23203787G>C | CA387502514 | SGCG | c.93G>C (p.Trp31Cys) c.147G>C (p.Trp49Cys) | COSMIC |
| 13 | g.23203787G>T | CA387502517 | SGCG | c.93G>T (p.Trp31Cys) c.147G>T (p.Trp49Cys) | |
| 13 | g.23203788A= | CA2078579936 | SGCG | c.94A= (p.Arg32=) c.148A= (p.Arg50=) | |
| 13 | g.23203788A>C | CA482903175 | SGCG | c.94A>C (p.Arg32=) c.148A>C (p.Arg50=) | dbSNP gnomAD v2 |
| 13 | g.23203788A>G | CA6909563 | SGCG | c.94A>G (p.Arg32Gly) c.148A>G (p.Arg50Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203788A>T | CA387502520 | SGCG | c.94A>T (p.Arg32Ter) c.148A>T (p.Arg50Ter) | |
| 13 | g.23203789G>A | CA387502521 | SGCG | c.95G>A (p.Arg32Lys) c.149G>A (p.Arg50Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203789G>C | CA387502522 | SGCG | c.95G>C (p.Arg32Thr) c.149G>C (p.Arg50Thr) | |
| 13 | g.23203789G= | CA2078579937 | SGCG | c.95G= (p.Arg32=) c.149G= (p.Arg50=) | |
| 13 | g.23203789G>T | CA387502523 | SGCG | c.95G>T (p.Arg32Ile) c.149G>T (p.Arg50Ile) | COSMIC |
| 13 | g.23203790A= | CA2078579938 | SGCG | c.96A= (p.Arg32=) c.150A= (p.Arg50=) | |
| 13 | g.23203790A>C | CA387502528 | SGCG | c.96A>C (p.Arg32Ser) c.150A>C (p.Arg50Ser) | |
| 13 | g.23203790A>G | CA6909564 | SGCG | c.96A>G (p.Arg32=) c.150A>G (p.Arg50=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203790A>T | CA387502525 | SGCG | c.96A>T (p.Arg32Ser) c.150A>T (p.Arg50Ser) | |
| 13 | g.23203791A>C | CA387502529 | SGCG | c.97A>C (p.Lys33Gln) c.151A>C (p.Lys51Gln) | gnomAD v4 |
| 13 | g.23203791A>G | CA387502531 | SGCG | c.97A>G (p.Lys33Glu) c.151A>G (p.Lys51Glu) | |
| 13 | g.23203791A>T | CA387502533 | SGCG | c.97A>T (p.Lys33Ter) c.151A>T (p.Lys51Ter) |