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.30968881del | CA2682268944 | GHRHR | c.105del (p.Glu36ArgfsTer?) | gnomAD v4 |
| 7 | g.30968881A>C | CA367149220 | GHRHR | c.105A>C (p.Arg35Ser) | |
| 7 | g.30968881A>G | CA454286179 | GHRHR | c.105A>G (p.Arg35=) | |
| 7 | g.30968881A>T | CA367149222 | GHRHR | c.105A>T (p.Arg35Ser) | |
| 7 | g.30968882G>A | CA367149225 | GHRHR | c.106G>A (p.Glu36Lys) | |
| 7 | g.30968882G>C | CA367149228 | GHRHR | c.106G>C (p.Glu36Gln) | |
| 7 | g.30968882G>T | CA367149230 | GHRHR | c.106G>T (p.Glu36Ter) | |
| 7 | g.30968883A>C | CA367149233 | GHRHR | c.107A>C (p.Glu36Ala) | |
| 7 | g.30968883A>G | CA367149235 | GHRHR | c.107A>G (p.Glu36Gly) | |
| 7 | g.30968883A>T | CA367149237 | GHRHR | c.107A>T (p.Glu36Val) | |
| 7 | g.30968884G>A | CA454286187 | GHRHR | c.108G>A (p.Glu36=) | |
| 7 | g.30968884G>C | CA367149240 | GHRHR | c.108G>C (p.Glu36Asp) | |
| 7 | g.30968884G>T | CA367149242 | GHRHR | c.108G>T (p.Glu36Asp) | |
| 7 | g.30968885G>A | CA367149250 | GHRHR | c.109G>A (p.Asp37Asn) | dbSNP gnomAD v4 |
| 7 | g.30968885G>C | CA367149245 | GHRHR | c.109G>C (p.Asp37His) | |
| 7 | g.30968885G= | CA1697942152 | GHRHR | c.109G= (p.Asp37=) | |
| 7 | g.30968885G>T | CA367149248 | GHRHR | c.109G>T (p.Asp37Tyr) | |
| 7 | g.30968886A>C | CA367149252 | GHRHR | c.110A>C (p.Asp37Ala) | |
| 7 | g.30968886A>G | CA367149254 | GHRHR | c.110A>G (p.Asp37Gly) | gnomAD v4 |
| 7 | g.30968886A>T | CA367149256 | GHRHR | c.110A>T (p.Asp37Val) | |
| 7 | g.30968887T>A | CA367149259 | GHRHR | c.111T>A (p.Asp37Glu) | dbSNP |
| 7 | g.30968887T>C | CA454286202 | GHRHR | c.111T>C (p.Asp37=) | |
| 7 | g.30968887T>G | CA367149261 | GHRHR | c.111T>G (p.Asp37Glu) | |
| 7 | g.30968887T= | CA1697942153 | GHRHR | c.111T= (p.Asp37=) | |
| 7 | g.30968888G>A | CA156111358 | GHRHR | c.112G>A (p.Glu38Lys) | dbSNP |
| 7 | g.30968888G>C | CA367149264 | GHRHR | c.112G>C (p.Glu38Gln) | |
| 7 | g.30968888G= | CA1697942154 | GHRHR | c.112G= (p.Glu38=) | |
| 7 | g.30968888G>T | CA367149267 | GHRHR | c.112G>T (p.Glu38Ter) | |
| 7 | g.30968889A>C | CA367149270 | GHRHR | c.113A>C (p.Glu38Ala) | |
| 7 | g.30968889A>G | CA367149272 | GHRHR | c.113A>G (p.Glu38Gly) | COSMIC |
| 7 | g.30968889A>T | CA367149274 | GHRHR | c.113A>T (p.Glu38Val) | |
| 7 | g.30968890G>A | CA454286216 | GHRHR | c.114G>A (p.Glu38=) | |
| 7 | g.30968890G>C | CA367149278 | GHRHR | c.114G>C (p.Glu38Asp) | |
| 7 | g.30968890G>T | CA367149280 | GHRHR | c.114G>T (p.Glu38Asp) | |
| 7 | g.30968891A= | CA1697942155 | GHRHR | c.115A= (p.Ser39=) | |
| 7 | g.30968891A>C | CA367149285 | GHRHR | c.115A>C (p.Ser39Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968891A>G | CA367149287 | GHRHR | c.115A>G (p.Ser39Gly) | |
| 7 | g.30968891A>T | CA367149283 | GHRHR | c.115A>T (p.Ser39Cys) | gnomAD v4 |
| 7 | g.30968892G>A | CA367149292 | GHRHR | c.116G>A (p.Ser39Asn) | dbSNP |
| 7 | g.30968892G>C | CA367149290 | GHRHR | c.116G>C (p.Ser39Thr) | |
| 7 | g.30968892G= | CA1697942156 | GHRHR | c.116G= (p.Ser39=) | |
| 7 | g.30968892G>T | CA367149293 | GHRHR | c.116G>T (p.Ser39Ile) | |
| 7 | g.30968893T>A | CA367149295 | GHRHR | c.117T>A (p.Ser39Arg) | |
| 7 | g.30968893T>C | CA454286232 | GHRHR | c.117T>C (p.Ser39=) | dbSNP |
| 7 | g.30968893T>G | CA367149298 | GHRHR | c.117T>G (p.Ser39Arg) | |
| 7 | g.30968893T= | CA1697942157 | GHRHR | c.117T= (p.Ser39=) | |
| 7 | g.30968894G>A | CA367149301 | GHRHR | c.118G>A (p.Ala40Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968894G>C | CA367149303 | GHRHR | c.118G>C (p.Ala40Pro) | |
| 7 | g.30968894G= | CA1697942158 | GHRHR | c.118G= (p.Ala40=) | |
| 7 | g.30968894G>T | CA367149306 | GHRHR | c.118G>T (p.Ala40Ser) | |
| 7 | g.30968895C>A | CA367149310 | GHRHR | c.119C>A (p.Ala40Asp) | |
| 7 | g.30968895C= | CA1697942159 | GHRHR | c.119C= (p.Ala40=) | |
| 7 | g.30968895C>G | CA367149312 | GHRHR | c.119C>G (p.Ala40Gly) | |
| 7 | g.30968895C>T | CA367149314 | GHRHR | c.119C>T (p.Ala40Val) | dbSNP |
| 7 | g.30968896C>A | CA454286249 | GHRHR | c.120C>A (p.Ala40=) | |
| 7 | g.30968896C= | CA1697942160 | GHRHR | c.120C= (p.Ala40=) | |
| 7 | g.30968896C>G | CA4208396 | GHRHR | c.120C>G (p.Ala40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.30968896C>T | CA454286254 | GHRHR | c.120C>T (p.Ala40=) | |
| 7 | g.30968897T>A | CA367149318 | GHRHR | c.121T>A (p.Cys41Ser) | |
| 7 | g.30968897T>C | CA367149321 | GHRHR | c.121T>C (p.Cys41Arg) | |
| 7 | g.30968897T>G | CA367149323 | GHRHR | c.121T>G (p.Cys41Gly) | |
| 7 | g.30968898G>A | CA367149325 | GHRHR | c.122G>A (p.Cys41Tyr) | |
| 7 | g.30968898G>C | CA367149327 | GHRHR | c.122G>C (p.Cys41Ser) | |
| 7 | g.30968898G>T | CA367149329 | GHRHR | c.122G>T (p.Cys41Phe) | |
| 7 | g.30968899T>A | CA367149335 | GHRHR | c.123T>A (p.Cys41Ter) | |
| 7 | g.30968899T>C | CA454286263 | GHRHR | c.123T>C (p.Cys41=) | |
| 7 | g.30968899T>G | CA367149332 | GHRHR | c.123T>G (p.Cys41Trp) | |
| 7 | g.30968900C>A | CA367149337 | GHRHR | c.124C>A (p.Leu42Ile) | |
| 7 | g.30968900C>G | CA367149339 | GHRHR | c.124C>G (p.Leu42Val) | gnomAD v4 |
| 7 | g.30968900C>T | CA454286268 | GHRHR | c.124C>T (p.Leu42=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.30968901T>A | CA367149343 | GHRHR | c.125T>A (p.Leu42Gln) | |
| 7 | g.30968901T>C | CA367149345 | GHRHR | c.125T>C (p.Leu42Pro) | COSMIC |
| 7 | g.30968901T>G | CA367149347 | GHRHR | c.125T>G (p.Leu42Arg) | |
| 7 | g.30968902A= | CA1697942161 | GHRHR | c.126A= (p.Leu42=) | |
| 7 | g.30968902A>C | CA4208397 | GHRHR | c.126A>C (p.Leu42=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968902A>G | CA454286277 | GHRHR | c.126A>G (p.Leu42=) | |
| 7 | g.30968902A>T | CA454286278 | GHRHR | c.126A>T (p.Leu42=) | |
| 7 | g.30968903C>A | CA367149356 | GHRHR | c.127C>A (p.Gln43Lys) | |
| 7 | g.30968903C= | CA1697942162 | GHRHR | c.127C= (p.Gln43=) | |
| 7 | g.30968903C>G | CA367149352 | GHRHR | c.127C>G (p.Gln43Glu) | |
| 7 | g.30968903C>T | CA367149354 | GHRHR | c.127C>T (p.Gln43Ter) | dbSNP gnomAD v4 |
| 7 | g.30968904A>C | CA367149358 | GHRHR | c.128A>C (p.Gln43Pro) | |
| 7 | g.30968904A>G | CA367149360 | GHRHR | c.128A>G (p.Gln43Arg) | |
| 7 | g.30968904A>T | CA367149362 | GHRHR | c.128A>T (p.Gln43Leu) | |
| 7 | g.30968905A>C | CA367149366 | GHRHR | c.129A>C (p.Gln43His) | |
| 7 | g.30968905A>G | CA454286293 | GHRHR | c.129A>G (p.Gln43=) | gnomAD v4 |
| 7 | g.30968905A>T | CA367149368 | GHRHR | c.129A>T (p.Gln43His) | |
| 7 | g.30968906G>A | CA367149371 | GHRHR | c.130G>A (p.Ala44Thr) | |
| 7 | g.30968906G>C | CA367149376 | GHRHR | c.130G>C (p.Ala44Pro) | |
| 7 | g.30968906G>T | CA367149374 | GHRHR | c.130G>T (p.Ala44Ser) | |
| 7 | g.30968907C>A | CA367149379 | GHRHR | c.131C>A (p.Ala44Glu) | |
| 7 | g.30968907C= | CA1697942163 | GHRHR | c.131C= (p.Ala44=) | |
| 7 | g.30968907C>G | CA367149381 | GHRHR | c.131C>G (p.Ala44Gly) | |
| 7 | g.30968907C>T | CA367149383 | GHRHR | c.131C>T (p.Ala44Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968908A= | CA1697942164 | GHRHR | c.132A= (p.Ala44=) | |
| 7 | g.30968908A>C | CA454286304 | GHRHR | c.132A>C (p.Ala44=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.30968908A>G | CA454286306 | GHRHR | c.132A>G (p.Ala44=) | |
| 7 | g.30968908A>T | CA454286309 | GHRHR | c.132A>T (p.Ala44=) | |
| 7 | g.30968909G>A | CA367149385 | GHRHR | c.133G>A (p.Ala45Thr) | COSMIC |
| 7 | g.30968909G>C | CA367149387 | GHRHR | c.133G>C (p.Ala45Pro) | |
| 7 | g.30968909G= | CA1697942165 | GHRHR | c.133G= (p.Ala45=) | |
| 7 | g.30968909G>T | CA4208398 | GHRHR | c.133G>T (p.Ala45Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.30968910C>A | CA367149396 | GHRHR | c.134C>A (p.Ala45Glu) | |
| 7 | g.30968910C= | CA1697942166 | GHRHR | c.134C= (p.Ala45=) | |
| 7 | g.30968910C>G | CA367149391 | GHRHR | c.134C>G (p.Ala45Gly) | dbSNP gnomAD v4 |
| 7 | g.30968910C>T | CA367149393 | GHRHR | c.134C>T (p.Ala45Val) | gnomAD v4 |
| 7 | g.30968911A= | CA1697942167 | GHRHR | c.135A= (p.Ala45=) | |
| 7 | g.30968911A>C | CA454286328 | GHRHR | c.135A>C (p.Ala45=) | |
| 7 | g.30968911A>G | CA454286330 | GHRHR | c.135A>G (p.Ala45=) | |
| 7 | g.30968911A>T | CA156111369 | GHRHR | c.135A>T (p.Ala45=) | dbSNP gnomAD v4 |
| 7 | g.30968911_30968914delinsAGAG | CA1697942168 | GHRHR | c.135_138delinsAGAG (p.Ala45=) | |
| 7 | g.30968912G>A | CA367149399 | GHRHR | c.136G>A (p.Glu46Lys) | dbSNP |
| 7 | g.30968912G>C | CA367149402 | GHRHR | c.136G>C (p.Glu46Gln) | |
| 7 | g.30968912G= | CA1697942169 | GHRHR | c.136G= (p.Glu46=) | |
| 7 | g.30968912G>T | CA367149406 | GHRHR | c.136G>T (p.Glu46Ter) | |
| 7 | g.30968915_30968917del | CA4208399 | GHRHR | c.139_141del (p.Glu47del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968913A>C | CA367149410 | GHRHR | c.137A>C (p.Glu46Ala) | |
| 7 | g.30968913A>G | CA367149414 | GHRHR | c.137A>G (p.Glu46Gly) | COSMIC |
| 7 | g.30968913A>T | CA367149412 | GHRHR | c.137A>T (p.Glu46Val) | |
| 7 | g.30968914G>A | CA4208400 | GHRHR | c.138G>A (p.Glu46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968914G>C | CA367149416 | GHRHR | c.138G>C (p.Glu46Asp) | |
| 7 | g.30968914G= | CA1697942170 | GHRHR | c.138G= (p.Glu46=) | |
| 7 | g.30968914G>T | CA367149418 | GHRHR | c.138G>T (p.Glu46Asp) | |
| 7 | g.30968915G>A | CA367149421 | GHRHR | c.139G>A (p.Glu47Lys) | |
| 7 | g.30968915G>C | CA367149423 | GHRHR | c.139G>C (p.Glu47Gln) | |
| 7 | g.30968915G>T | CA367149425 | GHRHR | c.139G>T (p.Glu47Ter) | |
| 7 | g.30968916A>C | CA367149429 | GHRHR | c.140A>C (p.Glu47Ala) | |
| 7 | g.30968916A>G | CA367149431 | GHRHR | c.140A>G (p.Glu47Gly) | |
| 7 | g.30968916A>T | CA367149433 | GHRHR | c.140A>T (p.Glu47Val) | gnomAD v4 |
| 7 | g.30968917G>A | CA454286363 | GHRHR | c.141G>A (p.Glu47=) | dbSNP |
| 7 | g.30968917G>C | CA4208401 | GHRHR | c.141G>C (p.Glu47Asp) | dbSNP ExAC |
| 7 | g.30968917G= | CA1697942171 | GHRHR | c.141G= (p.Glu47=) | |
| 7 | g.30968917G>T | CA367149436 | GHRHR | c.141G>T (p.Glu47Asp) | gnomAD v4 |
| 7 | g.30968918A= | CA1697942172 | GHRHR | c.142A= (p.Met48=) | |
| 7 | g.30968918A>C | CA367149444 | GHRHR | c.142A>C (p.Met48Leu) | |
| 7 | g.30968918A>G | CA367149448 | GHRHR | c.142A>G (p.Met48Val) | |
| 7 | g.30968918A>T | CA367149446 | GHRHR | c.142A>T (p.Met48Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968919T>A | CA367149452 | GHRHR | c.143T>A (p.Met48Lys) | |
| 7 | g.30968919T>C | CA367149454 | GHRHR | c.143T>C (p.Met48Thr) | dbSNP |
| 7 | g.30968919T>G | CA367149455 | GHRHR | c.143T>G (p.Met48Arg) | |
| 7 | g.30968919T= | CA1697942173 | GHRHR | c.143T= (p.Met48=) | |
| 7 | g.30968920G>A | CA4208402 | GHRHR | c.144G>A (p.Met48Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.30968920G>C | CA367149458 | GHRHR | c.144G>C (p.Met48Ile) | |
| 7 | g.30968920G= | CA1697942174 | GHRHR | c.144G= (p.Met48=) | |
| 7 | g.30968920G>T | CA367149460 | GHRHR | c.144G>T (p.Met48Ile) | |
| 7 | g.30968921C>A | CA367149467 | GHRHR | c.145C>A (p.Pro49Thr) | gnomAD v4 |
| 7 | g.30968921C= | CA1697942175 | GHRHR | c.145C= (p.Pro49=) | |
| 7 | g.30968921C>G | CA367149466 | GHRHR | c.145C>G (p.Pro49Ala) | |
| 7 | g.30968921C>T | CA367149463 | GHRHR | c.145C>T (p.Pro49Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968922C>A | CA367149469 | GHRHR | c.146C>A (p.Pro49His) | |
| 7 | g.30968922C>G | CA367149472 | GHRHR | c.146C>G (p.Pro49Arg) | |
| 7 | g.30968922C>T | CA367149473 | GHRHR | c.146C>T (p.Pro49Leu) | |
| 7 | g.30968923C>A | CA454286396 | GHRHR | c.147C>A (p.Pro49=) | |
| 7 | g.30968923C>G | CA454286397 | GHRHR | c.147C>G (p.Pro49=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968923C>T | CA454286399 | GHRHR | c.147C>T (p.Pro49=) | |
| 7 | g.30968924A>C | CA367149477 | GHRHR | c.148A>C (p.Asn50His) | |
| 7 | g.30968924A>G | CA367149479 | GHRHR | c.148A>G (p.Asn50Asp) | |
| 7 | g.30968924A>T | CA367149481 | GHRHR | c.148A>T (p.Asn50Tyr) | |
| 7 | g.30968925A>C | CA367149484 | GHRHR | c.149A>C (p.Asn50Thr) | |
| 7 | g.30968925A>G | CA367149490 | GHRHR | c.149A>G (p.Asn50Ser) | |
| 7 | g.30968925A>T | CA367149485 | GHRHR | c.149A>T (p.Asn50Ile) | |
| 7 | g.30968926C>A | CA367149493 | GHRHR | c.150C>A (p.Asn50Lys) | dbSNP gnomAD v4 |
| 7 | g.30968926C= | CA1697942176 | GHRHR | c.150C= (p.Asn50=) | |
| 7 | g.30968926C>G | CA367149495 | GHRHR | c.150C>G (p.Asn50Lys) | |
| 7 | g.30968926C>T | CA454286408 | GHRHR | c.150C>T (p.Asn50=) | gnomAD v4 |
| 7 | g.30968927A= | CA1697942177 | GHRHR | c.151A= (p.Thr51=) | |
| 7 | g.30968927A>C | CA367149499 | GHRHR | c.151A>C (p.Thr51Pro) | |
| 7 | g.30968927A>G | CA4208403 | GHRHR | c.151A>G (p.Thr51Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968927A>T | CA367149503 | GHRHR | c.151A>T (p.Thr51Ser) | |
| 7 | g.30968928C>A | CA367149505 | GHRHR | c.152C>A (p.Thr51Asn) | gnomAD v4 |
| 7 | g.30968928C>G | CA367149507 | GHRHR | c.152C>G (p.Thr51Ser) | gnomAD v4 |
| 7 | g.30968928C>T | CA367149508 | GHRHR | c.152C>T (p.Thr51Ile) | |
| 7 | g.30968929C>A | CA454286423 | GHRHR | c.153C>A (p.Thr51=) | |
| 7 | g.30968929C= | CA1697942178 | GHRHR | c.153C= (p.Thr51=) | |
| 7 | g.30968929C>G | CA454286425 | GHRHR | c.153C>G (p.Thr51=) | |
| 7 | g.30968929C>T | CA156111390 | GHRHR | c.153C>T (p.Thr51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968930A>C | CA367149511 | GHRHR | c.154A>C (p.Thr52Pro) | |
| 7 | g.30968930A>G | CA367149512 | GHRHR | c.154A>G (p.Thr52Ala) | |
| 7 | g.30968930A>T | CA367149513 | GHRHR | c.154A>T (p.Thr52Ser) | gnomAD v4 |
| 7 | g.30968931C>A | CA367149516 | GHRHR | c.155C>A (p.Thr52Asn) | |
| 7 | g.30968931C= | CA1697942179 | GHRHR | c.155C= (p.Thr52=) | |
| 7 | g.30968931C>G | CA367149520 | GHRHR | c.155C>G (p.Thr52Ser) | |
| 7 | g.30968931C>T | CA367149518 | GHRHR | c.155C>T (p.Thr52Ile) | dbSNP |
| 7 | g.30968932C>A | CA454286445 | GHRHR | c.156C>A (p.Thr52=) | |
| 7 | g.30968932C>G | CA454286448 | GHRHR | c.156C>G (p.Thr52=) | |
| 7 | g.30968932C>T | CA454286451 | GHRHR | c.156C>T (p.Thr52=) | |
| 7 | g.30968932_30968933insTGC | CA2682269022 | GHRHR | c.156_157insTGC (p.Thr52_Leu53insCys) | gnomAD v4 |
| 7 | g.30968933C>A | CA367149522 | GHRHR | c.157C>A (p.Leu53Met) | gnomAD v4 |
| 7 | g.30968933C= | CA1697942180 | GHRHR | c.157C= (p.Leu53=) | |
| 7 | g.30968933C>G | CA367149524 | GHRHR | c.157C>G (p.Leu53Val) | dbSNP |
| 7 | g.30968933C>T | CA454286452 | GHRHR | c.157C>T (p.Leu53=) | |
| 7 | g.30968934T>A | CA367149526 | GHRHR | c.158T>A (p.Leu53Gln) | |
| 7 | g.30968934T>C | CA367149529 | GHRHR | c.158T>C (p.Leu53Pro) | |
| 7 | g.30968934T>G | CA367149531 | GHRHR | c.158T>G (p.Leu53Arg) | dbSNP |
| 7 | g.30968934T= | CA1697942181 | GHRHR | c.158T= (p.Leu53=) | |
| 7 | g.30968935G>A | CA454286464 | GHRHR | c.159G>A (p.Leu53=) | |
| 7 | g.30968935G>C | CA454286465 | GHRHR | c.159G>C (p.Leu53=) | |
| 7 | g.30968935G= | CA1697942182 | GHRHR | c.159G= (p.Leu53=) | |
| 7 | g.30968935G>T | CA4208404 | GHRHR | c.159G>T (p.Leu53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968935_30968944del | CA2682269026 | GHRHR | c.159_160+8del | gnomAD v4 |
| 7 | g.30968936G>A | CA367149534 | GHRHR | c.160G>A (p.Gly54Ser) | gnomAD v4 |
| 7 | g.30968936G>C | CA367149536 | GHRHR | c.160G>C (p.Gly54Arg) | |
| 7 | g.30968936G>T | CA367149538 | GHRHR | c.160G>T (p.Gly54Cys) | |
| 7 | g.30968937G>A | CA367149539 | GHRHR | c.160+1G>A (n.160+1G>A) | |
| 7 | g.30968937G>C | CA367149540 | GHRHR | c.160+1G>C (n.160+1G>C) | |
| 7 | g.30968937G= | CA1697942183 | GHRHR | c.160+1G= (n.160+1G=) | |
| 7 | g.30968937G>T | CA4208405 | GHRHR | c.160+1G>T (n.160+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.30968938T>A | CA367149543 | GHRHR | c.160+2T>A (n.160+2T>A) | |
| 7 | g.30968938T>C | CA367149541 | GHRHR | c.160+2T>C (n.160+2T>C) | |
| 7 | g.30968938T>G | CA367149542 | GHRHR | c.160+2T>G (n.160+2T>G) | |
| 7 | g.30968939A>G | CA2695207558 | GHRHR | c.160+3A>G (n.160+3A>G) | |
| 7 | g.30968941G>A | CA1099881375 | GHRHR | c.160+5G>A (n.160+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968941G= | CA1697942184 | GHRHR | c.160+5G= (n.160+5G=) | |
| 7 | g.30968941G>T | CA2682269036 | GHRHR | c.160+5G>T (n.160+5G>T) | gnomAD v4 |
| 7 | g.30968942G>A | CA2682269037 | GHRHR | c.160+6G>A (n.160+6G>A) | gnomAD v4 |
| 7 | g.30968943G>A | CA454286479 | GHRHR | c.160+7G>A (n.160+7G>A) | |
| 7 | g.30968944G>A | CA2573142123 | GHRHR | c.160+8G>A (n.160+8G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.30968944G= | CA1697942185 | GHRHR | c.160+8G= (n.160+8G=) | |
| 7 | g.30968944G>T | CA4208406 | GHRHR | c.160+8G>T (n.160+8G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968945C>A | CA2578860304 | GHRHR | c.160+9C>A (n.160+9C>A) | gnomAD v4 |
| 7 | g.30968946C>A | CA573469480 | GHRHR | c.160+10C>A (n.160+10C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.30968946C= | CA1697942186 | GHRHR | c.160+10C= (n.160+10C=) | |
| 7 | g.30968946C>T | CA4208407 | GHRHR | c.160+10C>T (n.160+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.30968947T>C | CA2682269049 | GHRHR | c.160+11T>C (n.160+11T>C) | gnomAD v4 |
| 7 | g.30968948A>C | CA2682269051 | GHRHR | c.160+12A>C (n.160+12A>C) | gnomAD v4 |
| 7 | g.30968949G>T | CA2774910178 | GHRHR | c.160+13G>T (n.160+13G>T) | |
| 7 | g.30968950_30968951insCCCCATACCC | CA2682269053 | GHRHR | c.160+14_160+15insCCCCATACCC (n.160+14_160+15insCCCCATACCC) | gnomAD v4 |
| 7 | g.30968951A>G | CA2682269054 | GHRHR | c.160+15A>G (n.160+15A>G) | gnomAD v4 |
| 7 | g.30968952G>A | CA2682269056 | GHRHR | c.160+16G>A (n.160+16G>A) | gnomAD v4 |
| 7 | g.30968952G= | CA1697942187 | GHRHR | c.160+16G= (n.160+16G=) | |
| 7 | g.30968952G>T | CA1697942188 | GHRHR | c.160+16G>T (n.160+16G>T) | dbSNP |
| 7 | g.30968953G>A | CA4208408 | GHRHR | c.160+17G>A (n.160+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968953G= | CA1697942189 | GHRHR | c.160+17G= (n.160+17G=) | |
| 7 | g.30968954_30968956del | CA2682269059 | GHRHR | c.160+18_160+20del (n.160+18_160+20del) | gnomAD v4 |
| 7 | g.30968954C>A | CA2578860305 | GHRHR | c.160+18C>A (n.160+18C>A) | gnomAD v4 |
| 7 | g.30968957G>A | CA2682269064 | GHRHR | c.160+21G>A (n.160+21G>A) | gnomAD v4 |
| 7 | g.30968957G>T | CA2774910180 | GHRHR | c.160+21G>T (n.160+21G>T) | |
| 7 | g.30968959G>A | CA573469481 | GHRHR | c.160+23G>A (n.160+23G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968959G>C | CA1099881377 | GHRHR | c.160+23G>C (n.160+23G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968959G= | CA1697942190 | GHRHR | c.160+23G= (n.160+23G=) | |
| 7 | g.30968960G>A | CA2682269070 | GHRHR | c.160+24G>A (n.160+24G>A) | gnomAD v4 |
| 7 | g.30968961T>C | CA837559372 | GHRHR | c.160+25T>C (n.160+25T>C) | dbSNP |
| 7 | g.30968961T= | CA1697942191 | GHRHR | c.160+25T= (n.160+25T=) | |
| 7 | g.30968962G>A | CA2682269071 | GHRHR | c.160+26G>A (n.160+26G>A) | gnomAD v4 |
| 7 | g.30968962_30968963insTTGG | CA2682269072 | GHRHR | c.160+26_160+27insTTGG (n.160+26_160+27insTTGG) | gnomAD v4 |
| 7 | g.30968963G>T | CA2682269073 | GHRHR | c.160+27G>T (n.160+27G>T) | gnomAD v4 |
| 7 | g.30968964C>A | CA156111409 | GHRHR | c.160+28C>A (n.160+28C>A) | dbSNP gnomAD v4 |
| 7 | g.30968964C= | CA1697942192 | GHRHR | c.160+28C= (n.160+28C=) | |
| 7 | g.30968964C>T | CA1099881380 | GHRHR | c.160+28C>T (n.160+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968967C>G | CA2714346528 | GHRHR | c.160+31C>G (n.160+31C>G) | dbSNP |
| 7 | g.30968968T>C | CA573469482 | GHRHR | c.160+32T>C (n.160+32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30968968T= | CA1697942193 | GHRHR | c.160+32T= (n.160+32T=) | |
| 7 | g.30968969C>T | CA2714346538 | GHRHR | c.160+33C>T (n.160+33C>T) | dbSNP |
| 7 | g.30968972A= | CA1697942194 | GHRHR | c.160+36A= (n.160+36A=) | |
| 7 | g.30968972A>G | CA573469483 | GHRHR | c.160+36A>G (n.160+36A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.30968973T>A | CA2682269085 | GHRHR | c.160+37T>A (n.160+37T>A) | gnomAD v4 |
| 7 | g.30968973T>C | CA837559374 | GHRHR | c.160+37T>C (n.160+37T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968973T= | CA1697942195 | GHRHR | c.160+37T= (n.160+37T=) | |
| 7 | g.30968974T>G | CA4208409 | GHRHR | c.160+38T>G (n.160+38T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.30968974T= | CA1697942196 | GHRHR | c.160+38T= (n.160+38T=) | |
| 7 | g.30968975C>A | CA2682269087 | GHRHR | c.160+39C>A (n.160+39C>A) | gnomAD v4 |
| 7 | g.30968975C>G | CA2682269088 | GHRHR | c.160+39C>G (n.160+39C>G) | gnomAD v4 |
| 7 | g.30968975C>T | CA2682269089 | GHRHR | c.160+39C>T (n.160+39C>T) | dbSNP gnomAD v4 |
| 7 | g.30968976C>T | CA2714346553 | GHRHR | c.160+40C>T (n.160+40C>T) | dbSNP |
| 7 | g.30968976_30968977delinsCT | CA1697942197 | GHRHR | c.160+40_160+41delinsCT (n.160+40_160+41delinsCT) | |
| 7 | g.30968979del | CA1099881387 | GHRHR | c.160+43del (n.160+43del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30968978T>A | CA2682269090 | GHRHR | c.160+42T>A (n.160+42T>A) | gnomAD v4 |
| 7 | g.30968980A>G | CA2682269092 | GHRHR | c.160+44A>G (n.160+44A>G) | gnomAD v4 |
| 7 | g.30968981T>A | CA2578860306 | GHRHR | c.160+45T>A (n.160+45T>A) | |
| 7 | g.30968981T>C | CA4208410 | GHRHR | c.160+45T>C (n.160+45T>C) | dbSNP ExAC gnomAD v2 |
| 7 | g.30968981T= | CA1697942198 | GHRHR | c.160+45T= (n.160+45T=) |