2 | g.25161533C>A | CA346067244 | POMC | c.352G>T (p.Glu118Ter)
| |
2 | g.25161533C>G | CA346067245 | POMC | c.352G>C (p.Glu118Gln)
| |
2 | g.25161533C>T | CA346067246 | POMC | c.352G>A (p.Glu118Lys)
| gnomAD v4 |
2 | g.25161534A= | CA1239227716 | POMC | c.351T= (p.Pro117=)
| |
2 | g.25161534A>C | CA425353510 | POMC | c.351T>G (p.Pro117=)
| |
2 | g.25161534A>G | CA425353511 | POMC | c.351T>C (p.Pro117=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161534A>T | CA425353512 | POMC | c.351T>A (p.Pro117=)
| |
2 | g.25161535G>A | CA346067247 | POMC | c.350C>T (p.Pro117Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161535G>C | CA346067248 | POMC | c.350C>G (p.Pro117Arg)
| gnomAD v4 |
2 | g.25161535G= | CA1239227718 | POMC | c.350C= (p.Pro117=)
| |
2 | g.25161535G>T | CA346067249 | POMC | c.350C>A (p.Pro117His)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161536G>A | CA346067250 | POMC | c.349C>T (p.Pro117Ser)
| gnomAD v4 |
2 | g.25161536G>C | CA346067251 | POMC | c.349C>G (p.Pro117Ala)
| |
2 | g.25161536G>T | CA346067252 | POMC | c.349C>A (p.Pro117Thr)
| gnomAD v4 |
2 | g.25161537C>A | CA425353514 | POMC | c.348G>T (p.Leu116=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161537C= | CA1239227725 | POMC | c.348G= (p.Leu116=)
| |
2 | g.25161537C>G | CA425353515 | POMC | c.348G>C (p.Leu116=)
| |
2 | g.25161537C>T | CA425353516 | POMC | c.348G>A (p.Leu116=)
| COSMIC |
2 | g.25161538A>C | CA346067253 | POMC | c.347T>G (p.Leu116Arg)
| |
2 | g.25161538A>G | CA346067255 | POMC | c.347T>C (p.Leu116Pro)
| |
2 | g.25161538A>T | CA346067254 | POMC | c.347T>A (p.Leu116Gln)
| |
2 | g.25161539G>A | CA1555315 | POMC | c.346C>T (p.Leu116=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161539G>C | CA346067256 | POMC | c.346C>G (p.Leu116Val)
| |
2 | g.25161539G= | CA1239227732 | POMC | c.346C= (p.Leu116=)
| |
2 | g.25161539G>T | CA346067257 | POMC | c.346C>A (p.Leu116Met)
| |
2 | g.25161540C>A | CA1555316 | POMC | c.345G>T (p.Pro115=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161540C= | CA1239227737 | POMC | c.345G= (p.Pro115=)
| |
2 | g.25161540C>G | CA425353518 | POMC | c.345G>C (p.Pro115=)
| |
2 | g.25161540C>T | CA425353519 | POMC | c.345G>A (p.Pro115=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161541G>A | CA346067258 | POMC | c.344C>T (p.Pro115Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161541G>C | CA43684769 | POMC | c.344C>G (p.Pro115Arg)
| dbSNP |
2 | g.25161541G= | CA1239227740 | POMC | c.344C= (p.Pro115=)
| |
2 | g.25161541G>T | CA346067259 | POMC | c.344C>A (p.Pro115Gln)
| gnomAD v4 |
2 | g.25161542G>A | CA346067260 | POMC | c.343C>T (p.Pro115Ser)
| dbSNP |
2 | g.25161542G>C | CA346067261 | POMC | c.343C>G (p.Pro115Ala)
| dbSNP |
2 | g.25161542G= | CA1239227743 | POMC | c.343C= (p.Pro115=)
| |
2 | g.25161542G>T | CA346067262 | POMC | c.343C>A (p.Pro115Thr)
| gnomAD v4 |
2 | g.25161543G>A | CA425353521 | POMC | c.342C>T (p.Gly114=)
| dbSNP gnomAD v4 |
2 | g.25161543G>C | CA425353522 | POMC | c.342C>G (p.Gly114=)
| |
2 | g.25161543G= | CA1239227747 | POMC | c.342C= (p.Gly114=)
| |
2 | g.25161543G>T | CA425353523 | POMC | c.342C>A (p.Gly114=)
| |
2 | g.25161544C>A | CA346067264 | POMC | c.341G>T (p.Gly114Val)
| |
2 | g.25161544C>G | CA346067265 | POMC | c.341G>C (p.Gly114Ala)
| |
2 | g.25161544C>T | CA346067263 | POMC | c.341G>A (p.Gly114Asp)
| gnomAD v4 |
2 | g.25161544_25161545insGAAGA | CA2838335331 | POMC | c.340_341insTCTTC (p.Gly114ValfsTer?)
| |
2 | g.25161545C>A | CA346067266 | POMC | c.340G>T (p.Gly114Cys)
| |
2 | g.25161545C= | CA1239227751 | POMC | c.340G= (p.Gly114=)
| |
2 | g.25161545C>G | CA346067267 | POMC | c.340G>C (p.Gly114Arg)
| |
2 | g.25161545C>T | CA346067268 | POMC | c.340G>A (p.Gly114Ser)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161545_25161546insTGCGGCCCGCTGCCTGAGGGCG | CA2838335338 | POMC | c.339_340insCGCCCTCAGGCAGCGGGCCGCA (p.Gly114ArgfsTer12)
| |
2 | g.25161546G>A | CA425353527 | POMC | c.339C>T (p.Cys113=)
| dbSNP gnomAD v4 COSMIC |
2 | g.25161546G>C | CA346067269 | POMC | c.339C>G (p.Cys113Trp)
| |
2 | g.25161546G= | CA1239227755 | POMC | c.339C= (p.Cys113=)
| |
2 | g.25161546G>T | CA346067270 | POMC | c.339C>A (p.Cys113Ter)
| gnomAD v4 |
2 | g.25161547C>A | CA346067271 | POMC | c.338G>T (p.Cys113Phe)
| |
2 | g.25161547C>G | CA346067272 | POMC | c.338G>C (p.Cys113Ser)
| |
2 | g.25161547C>T | CA346067273 | POMC | c.338G>A (p.Cys113Tyr)
| gnomAD v4 |
2 | g.25161548A= | CA1239227762 | POMC | c.337T= (p.Cys113=)
| |
2 | g.25161548A>C | CA346067274 | POMC | c.337T>G (p.Cys113Gly)
| |
2 | g.25161548A>G | CA346067275 | POMC | c.337T>C (p.Cys113Arg)
| dbSNP gnomAD v4 |
2 | g.25161548A>T | CA346067276 | POMC | c.337T>A (p.Cys113Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161549G>A | CA425353531 | POMC | c.336C>T (p.Asp112=)
| gnomAD v4 |
2 | g.25161549G>C | CA346067277 | POMC | c.336C>G (p.Asp112Glu)
| |
2 | g.25161549G>T | CA346067278 | POMC | c.336C>A (p.Asp112Glu)
| |
2 | g.25161550T>A | CA346067281 | POMC | c.335A>T (p.Asp112Val)
| |
2 | g.25161550T>C | CA346067280 | POMC | c.335A>G (p.Asp112Gly)
| gnomAD v4 |
2 | g.25161550T>G | CA346067279 | POMC | c.335A>C (p.Asp112Ala)
| |
2 | g.25161551C>A | CA1555317 | POMC | c.334G>T (p.Asp112Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161551C= | CA1239227764 | POMC | c.334G= (p.Asp112=)
| |
2 | g.25161551C>G | CA346067282 | POMC | c.334G>C (p.Asp112His)
| gnomAD v4 |
2 | g.25161551C>T | CA346067283 | POMC | c.334G>A (p.Asp112Asn)
| dbSNP gnomAD v2 |
2 | g.25161552T>A | CA346067284 | POMC | c.333A>T (p.Glu111Asp)
| |
2 | g.25161552T>C | CA1555318 | POMC | c.333A>G (p.Glu111=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161552T>G | CA346067285 | POMC | c.333A>C (p.Glu111Asp)
| |
2 | g.25161552T= | CA1239227771 | POMC | c.333A= (p.Glu111=)
| |
2 | g.25161553T>A | CA346067286 | POMC | c.332A>T (p.Glu111Val)
| |
2 | g.25161553T>C | CA346067287 | POMC | c.332A>G (p.Glu111Gly)
| gnomAD v4 |
2 | g.25161553T>G | CA346067288 | POMC | c.332A>C (p.Glu111Ala)
| |
2 | g.25161554C>A | CA346067289 | POMC | c.331G>T (p.Glu111Ter)
| gnomAD v4 |
2 | g.25161554C>G | CA346067290 | POMC | c.331G>C (p.Glu111Gln)
| |
2 | g.25161554C>T | CA346067291 | POMC | c.331G>A (p.Glu111Lys)
| gnomAD v4 |
2 | g.25161554dup | CA2839495524 | POMC | c.331dup (p.Glu111GlyfsTer8)
| |
2 | g.25161555G>A | CA425353534 | POMC | c.330C>T (p.Gly110=)
| dbSNP gnomAD v4 |
2 | g.25161555G>C | CA425353535 | POMC | c.330C>G (p.Gly110=)
| |
2 | g.25161555G= | CA1239227776 | POMC | c.330C= (p.Gly110=)
| |
2 | g.25161555G>T | CA425353537 | POMC | c.330C>A (p.Gly110=)
| gnomAD v4 |
2 | g.25161556C>A | CA346067294 | POMC | c.329G>T (p.Gly110Val)
| |
2 | g.25161556C>G | CA346067293 | POMC | c.329G>C (p.Gly110Ala)
| |
2 | g.25161556C>T | CA346067292 | POMC | c.329G>A (p.Gly110Asp)
| gnomAD v4 |
2 | g.25161557C>A | CA346067295 | POMC | c.328G>T (p.Gly110Cys)
| gnomAD v4 |
2 | g.25161557C= | CA1239227778 | POMC | c.328G= (p.Gly110=)
| |
2 | g.25161557C>G | CA346067297 | POMC | c.328G>C (p.Gly110Arg)
| |
2 | g.25161557C>T | CA346067296 | POMC | c.328G>A (p.Gly110Ser)
| dbSNP gnomAD v4 |
2 | g.25161558C>A | CA425353539 | POMC | c.327G>T (p.Ala109=)
| dbSNP |
2 | g.25161558C= | CA1239227782 | POMC | c.327G= (p.Ala109=)
| |
2 | g.25161558C>G | CA1555319 | POMC | c.327G>C (p.Ala109=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161558C>T | CA425353540 | POMC | c.327G>A (p.Ala109=)
| gnomAD v4 |
2 | g.25161559G>A | CA346067298 | POMC | c.326C>T (p.Ala109Val)
| gnomAD v4 COSMIC |
2 | g.25161559G>C | CA346067299 | POMC | c.326C>G (p.Ala109Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161559G= | CA1239227784 | POMC | c.326C= (p.Ala109=)
| |
2 | g.25161559G>T | CA346067300 | POMC | c.326C>A (p.Ala109Glu)
| gnomAD v4 |
2 | g.25161560C>A | CA346067301 | POMC | c.325G>T (p.Ala109Ser)
| gnomAD v4 |
2 | g.25161560C= | CA1239227790 | POMC | c.325G= (p.Ala109=)
| |
2 | g.25161560C>G | CA346067302 | POMC | c.325G>C (p.Ala109Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161560C>T | CA43684782 | POMC | c.325G>A (p.Ala109Thr)
| dbSNP gnomAD v4 |
2 | g.25161561T>A | CA425353550 | POMC | c.324A>T (p.Ser108=)
| |
2 | g.25161561T>C | CA425353549 | POMC | c.324A>G (p.Ser108=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161561T>G | CA425353548 | POMC | c.324A>C (p.Ser108=)
| |
2 | g.25161561T= | CA1239227792 | POMC | c.324A= (p.Ser108=)
| |
2 | g.25161562G>A | CA43684786 | POMC | c.323C>T (p.Ser108Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161562G>C | CA346067303 | POMC | c.323C>G (p.Ser108Ter)
| gnomAD v4 |
2 | g.25161562G= | CA1239227796 | POMC | c.323C= (p.Ser108=)
| |
2 | g.25161562G>T | CA346067304 | POMC | c.323C>A (p.Ser108Ter)
| dbSNP gnomAD v4 |
2 | g.25161563A>C | CA346067307 | POMC | c.322T>G (p.Ser108Ala)
| |
2 | g.25161563A>G | CA346067306 | POMC | c.322T>C (p.Ser108Pro)
| |
2 | g.25161563A>T | CA346067305 | POMC | c.322T>A (p.Ser108Thr)
| |
2 | g.25161564G>A | CA425353555 | POMC | c.321C>T (p.Val107=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161564G>C | CA425353557 | POMC | c.321C>G (p.Val107=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161564G= | CA1239227800 | POMC | c.321C= (p.Val107=)
| |
2 | g.25161564G>T | CA425353560 | POMC | c.321C>A (p.Val107=)
| |
2 | g.25161565A>C | CA346067308 | POMC | c.320T>G (p.Val107Gly)
| |
2 | g.25161565A>G | CA346067309 | POMC | c.320T>C (p.Val107Ala)
| gnomAD v4 |
2 | g.25161565A>T | CA346067310 | POMC | c.320T>A (p.Val107Asp)
| |
2 | g.25161566C>A | CA346067311 | POMC | c.319G>T (p.Val107Phe)
| gnomAD v4 |
2 | g.25161566C>G | CA346067312 | POMC | c.319G>C (p.Val107Leu)
| |
2 | g.25161566C>T | CA346067313 | POMC | c.319G>A (p.Val107Ile)
| gnomAD v4 |
2 | g.25161567G>A | CA43684789 | POMC | c.318C>T (p.Asp106=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161567G>C | CA346067314 | POMC | c.318C>G (p.Asp106Glu)
| dbSNP gnomAD v4 |
2 | g.25161567G= | CA1239227804 | POMC | c.318C= (p.Asp106=)
| |
2 | g.25161567G>T | CA346067315 | POMC | c.318C>A (p.Asp106Glu)
| gnomAD v4 |
2 | g.25161568T>A | CA346067316 | POMC | c.317A>T (p.Asp106Val)
| |
2 | g.25161568T>C | CA346067317 | POMC | c.317A>G (p.Asp106Gly)
| |
2 | g.25161568T>G | CA346067318 | POMC | c.317A>C (p.Asp106Ala)
| |
2 | g.25161568_25161572del | CA2658163200 | POMC | c.313_317del (p.Glu105ArgfsTer12)
| gnomAD v4 |
2 | g.25161569C>A | CA346067319 | POMC | c.316G>T (p.Asp106Tyr)
| |
2 | g.25161569C= | CA1239227809 | POMC | c.316G= (p.Asp106=)
| |
2 | g.25161569C>G | CA346067320 | POMC | c.316G>C (p.Asp106His)
| |
2 | g.25161569C>T | CA1555320 | POMC | c.316G>A (p.Asp106Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161570C>A | CA346067321 | POMC | c.315G>T (p.Glu105Asp)
| gnomAD v4 |
2 | g.25161570C= | CA1239227811 | POMC | c.315G= (p.Glu105=)
| |
2 | g.25161570C>G | CA346067322 | POMC | c.315G>C (p.Glu105Asp)
| |
2 | g.25161570C>T | CA425353571 | POMC | c.315G>A (p.Glu105=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161571T>A | CA346067323 | POMC | c.314A>T (p.Glu105Val)
| |
2 | g.25161571T>C | CA1555321 | POMC | c.314A>G (p.Glu105Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161571T>G | CA346067324 | POMC | c.314A>C (p.Glu105Ala)
| |
2 | g.25161571T= | CA1239227815 | POMC | c.314A= (p.Glu105=)
| |
2 | g.25161572C>A | CA256767 | POMC | c.313G>T (p.Glu105Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161572C= | CA1239227835 | POMC | c.313G= (p.Glu105=)
| |
2 | g.25161572C>G | CA346067325 | POMC | c.313G>C (p.Glu105Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161572C>T | CA43684814 | POMC | c.313G>A (p.Glu105Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161573G>A | CA43684818 | POMC | c.312C>T (p.Arg104=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161573G>C | CA425353578 | POMC | c.312C>G (p.Arg104=)
| gnomAD v4 |
2 | g.25161573G= | CA1239227844 | POMC | c.312C= (p.Arg104=)
| |
2 | g.25161573G>T | CA425353579 | POMC | c.312C>A (p.Arg104=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161573_25161589delinsGCGCTTCTGCCCTGCGC | CA1239227846 | POMC | c.296_312delinsGCGCAGGGCAGAAGCGC (p.Gly99=)
| |
2 | g.25161574C>A | CA346067326 | POMC | c.311G>T (p.Arg104Leu)
| gnomAD v4 |
2 | g.25161574C= | CA1239227851 | POMC | c.311G= (p.Arg104=)
| |
2 | g.25161574C>G | CA346067327 | POMC | c.311G>C (p.Arg104Pro)
| |
2 | g.25161574C>T | CA43684823 | POMC | c.311G>A (p.Arg104His)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161578_25161593del | CA1239227850 | POMC | c.296_311del (p.Gly99AlafsTer?)
| dbSNP gnomAD v4 |
2 | g.25161574_25161635del | CA2658163201 | POMC | c.250_311del (p.Trp84ArgfsTer14)
| gnomAD v4 |
2 | g.25161575G>A | CA1555323 | POMC | c.310C>T (p.Arg104Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161575G>C | CA1555322 | POMC | c.310C>G (p.Arg104Gly)
| dbSNP ExAC gnomAD v4 |
2 | g.25161575G= | CA1239227858 | POMC | c.310C= (p.Arg104=)
| |
2 | g.25161575G>T | CA346067328 | POMC | c.310C>A (p.Arg104Ser)
| ClinVar gnomAD v4 |
2 | g.25161576C>A | CA346067329 | POMC | c.309G>T (p.Lys103Asn)
| gnomAD v4 |
2 | g.25161576C>G | CA346067330 | POMC | c.309G>C (p.Lys103Asn)
| |
2 | g.25161576C>T | CA425353585 | POMC | c.309G>A (p.Lys103=)
| |
2 | g.25161577T>A | CA346067331 | POMC | c.308A>T (p.Lys103Met)
| |
2 | g.25161577T>C | CA346067332 | POMC | c.308A>G (p.Lys103Arg)
| |
2 | g.25161577T>G | CA346067333 | POMC | c.308A>C (p.Lys103Thr)
| |
2 | g.25161578T>A | CA346067334 | POMC | c.307A>T (p.Lys103Ter)
| |
2 | g.25161578T>C | CA346067335 | POMC | c.307A>G (p.Lys103Glu)
| |
2 | g.25161578T>G | CA346067336 | POMC | c.307A>C (p.Lys103Gln)
| dbSNP |
2 | g.25161578T= | CA1239227864 | POMC | c.307A= (p.Lys103=)
| |
2 | g.25161579C>A | CA346067337 | POMC | c.306G>T (p.Gln102His)
| gnomAD v4 |
2 | g.25161579C= | CA1239227870 | POMC | c.306G= (p.Gln102=)
| |
2 | g.25161579C>G | CA346067338 | POMC | c.306G>C (p.Gln102His)
| |
2 | g.25161579C>T | CA425353591 | POMC | c.306G>A (p.Gln102=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161584_25161599dup | CA767173506 | POMC | c.291_306dup (p.Lys103GlnfsTer21)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161580T>A | CA346067339 | POMC | c.305A>T (p.Gln102Leu)
| gnomAD v4 |
2 | g.25161580T>C | CA346067340 | POMC | c.305A>G (p.Gln102Arg)
| gnomAD v4 |
2 | g.25161580T>G | CA346067341 | POMC | c.305A>C (p.Gln102Pro)
| dbSNP |
2 | g.25161580T= | CA1239227876 | POMC | c.305A= (p.Gln102=)
| |
2 | g.25161581G>A | CA346067342 | POMC | c.304C>T (p.Gln102Ter)
| gnomAD v4 |
2 | g.25161581G>C | CA346067343 | POMC | c.304C>G (p.Gln102Glu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161581G= | CA1239227883 | POMC | c.304C= (p.Gln102=)
| |
2 | g.25161581G>T | CA346067344 | POMC | c.304C>A (p.Gln102Lys)
| gnomAD v4 |
2 | g.25161581_25161582delinsGC | CA1239227881 | POMC | c.303_304delinsGC (p.Gly101=)
| |
2 | g.25161582C>A | CA425353596 | POMC | c.303G>T (p.Gly101=)
| |
2 | g.25161582C= | CA1239227887 | POMC | c.303G= (p.Gly101=)
| |
2 | g.25161582C>G | CA425353595 | POMC | c.303G>C (p.Gly101=)
| |
2 | g.25161582C>T | CA425353594 | POMC | c.303G>A (p.Gly101=)
| dbSNP gnomAD v4 |
2 | g.25161584del | CA531760852 | POMC | c.303del (p.Gln102ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161583C>A | CA346067346 | POMC | c.302G>T (p.Gly101Val)
| gnomAD v4 |
2 | g.25161583C>G | CA346067347 | POMC | c.302G>C (p.Gly101Ala)
| |
2 | g.25161583C>T | CA346067345 | POMC | c.302G>A (p.Gly101Glu)
| gnomAD v4 |
2 | g.25161583_25161584insGTGCGCCG | CA2749203940 | POMC | c.301_302insCGGCGCAC (p.Gly101AlafsTer?)
| |
2 | g.25161584C>A | CA346067349 | POMC | c.301G>T (p.Gly101Trp)
| gnomAD v4 |
2 | g.25161584C>G | CA346067348 | POMC | c.301G>C (p.Gly101Arg)
| gnomAD v4 |
2 | g.25161584C>T | CA346067350 | POMC | c.301G>A (p.Gly101Arg)
| gnomAD v4 |
2 | g.25161585T>A | CA425353602 | POMC | c.300A>T (p.Ala100=)
| |
2 | g.25161585T>C | CA425353603 | POMC | c.300A>G (p.Ala100=)
| gnomAD v4 |
2 | g.25161585T>G | CA425353604 | POMC | c.300A>C (p.Ala100=)
| |
2 | g.25161585T= | CA1239227891 | POMC | c.300A= (p.Ala100=)
| |
2 | g.25161585_25161586insTC | CA531760853 | POMC | c.299_300insGA (p.Gly101LysfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161586G>A | CA346067351 | POMC | c.299C>T (p.Ala100Val)
| |
2 | g.25161586G>C | CA1555324 | POMC | c.299C>G (p.Ala100Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161586G= | CA1239227897 | POMC | c.299C= (p.Ala100=)
| |
2 | g.25161586G>T | CA43684842 | POMC | c.299C>A (p.Ala100Glu)
| dbSNP gnomAD v4 |
2 | g.25161586_25161587insGCCGCTGCT | CA645515100 | POMC | c.298_299insAGCAGCGGC (p.Ala100delinsGluGlnArgPro)
| COSMIC |
2 | g.25161587C>A | CA346067352 | POMC | c.298G>T (p.Ala100Ser)
| dbSNP gnomAD v4 |
2 | g.25161587C= | CA1239227908 | POMC | c.298G= (p.Ala100=)
| |
2 | g.25161587C>G | CA346067353 | POMC | c.298G>C (p.Ala100Pro)
| |
2 | g.25161587C>T | CA1555328 | POMC | c.298G>A (p.Ala100Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161587_25161596delinsCGCCGCTGCT | CA1239227917 | POMC | c.289_298delinsAGCAGCGGCG (p.Ser97=)
| |
2 | g.25161587_25161588insT | CA43684874 | POMC | c.297_298insA (p.Ala100SerfsTer19)
| ClinVar dbSNP |
2 | g.25161587_25161588insCGCTGCT | CA1028505401 | POMC | c.297_298insAGCAGCG (p.Ala100SerfsTer21)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161587_25161588insACCGCTGCT | CA2576693514 | POMC | c.297_298insAGCAGCGGT (p.Gly99_Ala100insSerSerGly)
| |
2 | g.25161588G>A | CA425353615 | POMC | c.297C>T (p.Gly99=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161588G>C | CA425353614 | POMC | c.297C>G (p.Gly99=)
| dbSNP |
2 | g.25161588G= | CA1239227957 | POMC | c.297C= (p.Gly99=)
| |
2 | g.25161588G>T | CA1555329 | POMC | c.297C>A (p.Gly99=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161588_25161589delinsGC | CA1239227965 | POMC | c.296_297delinsGC (p.Gly99=)
| |
2 | g.25161590_25161591insACTGCTGCC | CA1239227959 | POMC | c.297_298insAGCAGTGGC (p.Gly99_Ala100insSerSerGly)
| dbSNP |
2 | g.25161596_25161597insTCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163202 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGAAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGly)
| gnomAD v4 |
2 | g.25161598_25161599insTGCCGCTGCTGC | CA2594344357 | POMC | c.297_298insAGCAGCAGCGGC (p.Gly99_Ala100insSerSerSerGly)
| gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA531760854 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA1555327 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA1028505387 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA1028505394 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA531760857 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA531760856 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGATGCCGCTGCTGCCGCTGCTGC | CA2749203941 | POMC | c.297_298insATCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insIleSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA531760855 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA1028505393 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA1028505392 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | CA1028505391 | POMC | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161599_25161607dup | CA208377 | POMC | c.289_297dup (p.Gly99_Ala100insSerSerGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25161590_25161607dup | CA1555326 | POMC | c.280_297dup (p.Gly99_Ala100insSerSerGlySerSerGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161599_25161607del | CA1555325 | POMC | c.289_297del (p.Ser97_Gly99del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161588_25161589insGCCGCTGCT | CA645515101 | POMC | c.296_297insAGCAGCGGC (p.Gly99_Ala100insAlaAlaAla)
| COSMIC |
2 | g.25161589C>A | CA346067355 | POMC | c.296G>T (p.Gly99Val)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161589C= | CA1239228003 | POMC | c.296G= (p.Gly99=)
| |
2 | g.25161589C>G | CA346067354 | POMC | c.296G>C (p.Gly99Ala)
| |
2 | g.25161589C>T | CA346067356 | POMC | c.296G>A (p.Gly99Asp)
| dbSNP |
2 | g.25161590del | CA531760858 | POMC | c.296del (p.Gly99AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161596_25161597insACCGCTGCT | CA1239228001 | POMC | c.296_297insTAGCAGCGG (p.Gly99_Ala100insSerSerGly)
| dbSNP gnomAD v4 |
2 | g.25161590C>A | CA346067357 | POMC | c.295G>T (p.Gly99Cys)
| |
2 | g.25161590C= | CA1239228005 | POMC | c.295G= (p.Gly99=)
| |
2 | g.25161590C>G | CA346067359 | POMC | c.295G>C (p.Gly99Arg)
| |
2 | g.25161590C>T | CA346067358 | POMC | c.295G>A (p.Gly99Ser)
| gnomAD v4 |
2 | g.25161597_25161598insTCGCTGCTG | CA2699004435 | POMC | c.295_296insACAGCAGCG (p.Ser98_Gly99insAspSerSer)
| dbSNP |
2 | g.25161591G>A | CA43684888 | POMC | c.294C>T (p.Ser98=)
| dbSNP gnomAD v4 |
2 | g.25161591G>C | CA346067360 | POMC | c.294C>G (p.Ser98Arg)
| |
2 | g.25161591G= | CA1239228011 | POMC | c.294C= (p.Ser98=)
| |
2 | g.25161591G>T | CA346067361 | POMC | c.294C>A (p.Ser98Arg)
| gnomAD v4 |
2 | g.25161598_25161599insAGCTGCTGC | CA1239228010 | POMC | c.294_295insTGCAGCAGC (p.Ser98_Gly99insCysSerSer)
| dbSNP |
2 | g.25161598_25161599insTGCTGCTGC | CA2698825094 | POMC | c.294_295insAGCAGCAGC (p.Ser98_Gly99insSerSerSer)
| dbSNP |
2 | g.25161593_25161598dup | CA2576693515 | POMC | c.289_294dup (p.Ser98_Gly99insSerSer)
| |
2 | g.25161596_25161598del | CA2576693516 | POMC | c.292_294del (p.Ser98del)
| gnomAD v4 |
2 | g.25161599_25161610dup | CA2658163203 | POMC | c.283_294dup (p.Ser98_Gly99insSerGlySerSer)
| gnomAD v4 |
2 | g.25161599_25161610del | CA2576693517 | POMC | c.283_294del (p.Ser95_Ser98del)
| |
2 | g.25161592C>A | CA346067362 | POMC | c.293G>T (p.Ser98Ile)
| |
2 | g.25161592C>G | CA346067364 | POMC | c.293G>C (p.Ser98Thr)
| gnomAD v4 |
2 | g.25161592C>T | CA346067363 | POMC | c.293G>A (p.Ser98Asn)
| gnomAD v4 |
2 | g.25161592_25161593insCGCTGCCTC | CA891862731 | POMC | c.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly)
| ClinVar dbSNP |
2 | g.25161593T>A | CA346067365 | POMC | c.292A>T (p.Ser98Cys)
| |
2 | g.25161593T>C | CA346067366 | POMC | c.292A>G (p.Ser98Gly)
| dbSNP |
2 | g.25161593T>G | CA346067367 | POMC | c.292A>C (p.Ser98Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161593T= | CA1239228024 | POMC | c.292A= (p.Ser98=)
| |
2 | g.25161593_25161599delinsTGCTGCC | CA1239228026 | POMC | c.286_292delinsGGCAGCA (p.Gly96=)
| |
2 | g.25161594G>A | CA1555330 | POMC | c.291C>T (p.Ser97=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161594G>C | CA346067368 | POMC | c.291C>G (p.Ser97Arg)
| |
2 | g.25161594G= | CA1239228037 | POMC | c.291C= (p.Ser97=)
| |
2 | g.25161594G>T | CA346067369 | POMC | c.291C>A (p.Ser97Arg)
| gnomAD v4 |
2 | g.25161599_25161604dup | CA1239228035 | POMC | c.286_291dup (p.Ser97_Ser98insGlySer)
| dbSNP gnomAD v4 |
2 | g.25161599_25161604del | CA1239228034 | POMC | c.286_291del (p.Gly96_Ser97del)
| dbSNP |
2 | g.25161607_25161608insCGCTGCCGCTGCTGC | CA1239228036 | POMC | c.291_292insGGCAGCAGCGGCAGC (p.Ser97_Ser98insGlySerSerGlySer)
| dbSNP |
2 | g.25161595C>A | CA346067370 | POMC | c.290G>T (p.Ser97Ile)
| gnomAD v4 |
2 | g.25161595C= | CA1239228042 | POMC | c.290G= (p.Ser97=)
| |
2 | g.25161595C>G | CA346067371 | POMC | c.290G>C (p.Ser97Thr)
| gnomAD v4 |
2 | g.25161595C>T | CA1555331 | POMC | c.290G>A (p.Ser97Asn)
| dbSNP ExAC gnomAD v4 |
2 | g.25161596T>A | CA346067372 | POMC | c.289A>T (p.Ser97Cys)
| |
2 | g.25161596T>C | CA346067373 | POMC | c.289A>G (p.Ser97Gly)
| dbSNP |
2 | g.25161596T>G | CA1555332 | POMC | c.289A>C (p.Ser97Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161596T= | CA1239228048 | POMC | c.289A= (p.Ser97=)
| |
2 | g.25161603_25161604insTTGCCGCTG | CA2699004454 | POMC | c.289_290insACAGCGGCA (p.Gly96_Ser97insAsnSerGly)
| dbSNP |
2 | g.25161607_25161608insCGCTGCTGCTGCTGTTGCCGCTGCTGC | CA2658163204 | POMC | c.289_290insACAGCAGCAGCAGCGGCAGCAGCGGCA (p.Gly96_Ser97insAsnSerSerSerSerGlySerSerGly)
| gnomAD v4 |
2 | g.25161599_25161616dup | CA1239228046 | POMC | c.272_289dup (p.Gly96_Ser97insAsnSerSerSerSerGly)
| dbSNP |
2 | g.25161597G>A | CA425353625 | POMC | c.288C>T (p.Gly96=)
| gnomAD v4 |
2 | g.25161597G>C | CA425353623 | POMC | c.288C>G (p.Gly96=)
| |
2 | g.25161597G>T | CA425353624 | POMC | c.288C>A (p.Gly96=)
| |
2 | g.25161598C>A | CA346067376 | POMC | c.287G>T (p.Gly96Val)
| |
2 | g.25161598C= | CA1239228056 | POMC | c.287G= (p.Gly96=)
| |
2 | g.25161598C>G | CA346067374 | POMC | c.287G>C (p.Gly96Ala)
| |
2 | g.25161598C>T | CA346067375 | POMC | c.287G>A (p.Gly96Asp)
| gnomAD v4 |
2 | g.25161599C>A | CA1555334 | POMC | c.286G>T (p.Gly96Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161599C= | CA1239228063 | POMC | c.286G= (p.Gly96=)
| |
2 | g.25161599C>G | CA346067377 | POMC | c.286G>C (p.Gly96Arg)
| gnomAD v4 |
2 | g.25161599C>T | CA1555335 | POMC | c.286G>A (p.Gly96Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161599_25161602delinsCGCT | CA1239228067 | POMC | c.283_286delinsAGCG (p.Ser95=)
| |
2 | g.25161599_25161613dup | CA531760864 | POMC | c.272_286dup (p.Ser95_Gly96insAspSerSerSerSer)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161600G>A | CA43684909 | POMC | c.285C>T (p.Ser95=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161600G>C | CA346067378 | POMC | c.285C>G (p.Ser95Arg)
| gnomAD v4 |
2 | g.25161600G= | CA1239228086 | POMC | c.285C= (p.Ser95=)
| |
2 | g.25161600G>T | CA346067379 | POMC | c.285C>A (p.Ser95Arg)
| gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCTGCTGC | CA2658163206 | POMC | c.285_286insAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerGlySerSer)
| gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCTGCTGCTGC | CA531760866 | POMC | c.285_286insAGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSer)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGC | CA1239228087 | POMC | c.285_286insAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerGlySerSerGlySerSer)
| dbSNP |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCTGCTGC | CA916493926 | POMC | c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC | CA531760867 | POMC | c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySerSer)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGC | CA1028505423 | POMC | c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSer)
| gnomAD v3 gnomAD v4 |
2 | g.25161610_25161612dup | CA767173635 | POMC | c.283_285dup (p.Ser95_Gly96insSer)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161612dup | CA2658163207 | POMC | c.280_285dup (p.Ser95_Gly96insSerSer)
| gnomAD v4 |
2 | g.25161604_25161612dup | CA1555333 | POMC | c.277_285dup (p.Ser95_Gly96insSerSerSer)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161610_25161612del | CA346067380 | POMC | c.283_285del (p.Ser95del)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161604_25161612del | CA2658163205 | POMC | c.277_285del (p.Ser93_Ser95del)
| gnomAD v4 |
2 | g.25161602_25161619dup | CA531760865 | POMC | c.268_285dup (p.Ser95_Gly96insArgAsnSerSerSerSer)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161601C>A | CA346067381 | POMC | c.284G>T (p.Ser95Ile)
| gnomAD v4 |
2 | g.25161601C= | CA1239228099 | POMC | c.284G= (p.Ser95=)
| |
2 | g.25161601C>G | CA346067382 | POMC | c.284G>C (p.Ser95Thr)
| |
2 | g.25161601C>T | CA1555336 | POMC | c.284G>A (p.Ser95Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161601_25161602delinsGG | CA2580066133 | POMC | c.283_284delinsCC (p.Ser95Pro)
| ClinVar |
2 | g.25161602_25161603insACT | CA2658163208 | POMC | c.284_285insTAG (p.Ser95_Gly96insSer)
| gnomAD v4 |
2 | g.25161602T>A | CA346067384 | POMC | c.283A>T (p.Ser95Cys)
| |
2 | g.25161602T>C | CA1555337 | POMC | c.283A>G (p.Ser95Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161602T>G | CA346067383 | POMC | c.283A>C (p.Ser95Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161602T= | CA1239228106 | POMC | c.283A= (p.Ser95=)
| |
2 | g.25161603G>A | CA1555338 | POMC | c.282C>T (p.Ser94=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161603G>C | CA346067385 | POMC | c.282C>G (p.Ser94Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161603G= | CA1239228119 | POMC | c.282C= (p.Ser94=)
| |
2 | g.25161603G>T | CA346067386 | POMC | c.282C>A (p.Ser94Arg)
| gnomAD v4 |
2 | g.25161603dup | CA916493927 | POMC | c.282dup (p.Ser95GlnfsTer24)
| dbSNP |
2 | g.25161607_25161608insCGCTGC | CA425179804 | POMC | c.282_283insGGCAGC (p.Ser94_Ser95insGlySer)
| gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCTGCTGTTGCGGCTGC | CA2658163209 | POMC | c.282_283insCGCAACAGCAGCAGCAGCGGCAGC (p.Ser94_Ser95insArgAsnSerSerSerSerGlySer)
| gnomAD v4 |
2 | g.25161605_25161619del | CA2658163210 | POMC | c.268_282del (p.Arg90_Ser94del)
| gnomAD v4 |
2 | g.25161603_25161604insA | CA916493930 | POMC | c.281_282insT (p.Ser95GlnfsTer24)
| dbSNP |
2 | g.25161604C>A | CA346067387 | POMC | c.281G>T (p.Ser94Ile)
| |
2 | g.25161604C= | CA1239228126 | POMC | c.281G= (p.Ser94=)
| |
2 | g.25161604C>G | CA346067388 | POMC | c.281G>C (p.Ser94Thr)
| |
2 | g.25161604C>T | CA346067389 | POMC | c.281G>A (p.Ser94Asn)
| dbSNP gnomAD v4 |
2 | g.25161604_25161605insCGCTAC | CA2658163211 | POMC | c.281_282insTAGCGG (p.Ser94_Ser95insSerGly)
| gnomAD v4 |
2 | g.25161605T>A | CA346067390 | POMC | c.280A>T (p.Ser94Cys)
| |
2 | g.25161605T>C | CA1555340 | POMC | c.280A>G (p.Ser94Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161605T>G | CA346067391 | POMC | c.280A>C (p.Ser94Arg)
| gnomAD v4 |
2 | g.25161605T= | CA1239228135 | POMC | c.280A= (p.Ser94=)
| |
2 | g.25161607_25161608insCGCTGCTGCTGCTGTTGC | CA916493931 | POMC | c.280_281insACAGCAGCAGCAGCGGCA (p.Ser93_Ser94insAsnSerSerSerSerGly)
| dbSNP |
2 | g.25161608_25161616dup | CA1555339 | POMC | c.272_280dup (p.Ser93_Ser94insAsnSerSer)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161606G>A | CA425179814 | POMC | c.279C>T (p.Ser93=)
| gnomAD v4 |
2 | g.25161606G>C | CA346067392 | POMC | c.279C>G (p.Ser93Arg)
| |
2 | g.25161606G>T | CA346067393 | POMC | c.279C>A (p.Ser93Arg)
| gnomAD v4 |
2 | g.25161607_25161608insCGC | CA531358424 | POMC | c.279_280insGGC (p.Ser93_Ser94insGly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCCGC | CA2698797720 | POMC | c.279_280insGGCAGCGGC (p.Ser93_Ser94insGlySerGly)
| dbSNP |
2 | g.25161607_25161608insCGCTGCGGC | CA2658163212 | POMC | c.279_280insCGCAGCGGC (p.Ser93_Ser94insArgSerGly)
| gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGC | CA1028505444 | POMC | c.279_280insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Ser93_Ser94insGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCAGC | CA1028505445 | POMC | c.279_280insTGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Ser93_Ser94insCysSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
| gnomAD v3 gnomAD v4 |
2 | g.25161607C>A | CA346067396 | POMC | c.278G>T (p.Ser93Ile)
| |
2 | g.25161607C= | CA1239228140 | POMC | c.278G= (p.Ser93=)
| |
2 | g.25161607C>G | CA346067394 | POMC | c.278G>C (p.Ser93Thr)
| |
2 | g.25161607C>T | CA346067395 | POMC | c.278G>A (p.Ser93Asn)
| gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTAC | CA2658163213 | POMC | c.278_279insTAGCAGCGG (p.Ser93_Ser94insSerSerGly)
| gnomAD v4 |
2 | g.25161607_25161608insCGCTGCTGA | CA1239228145 | POMC | c.277_278insTCAGCAGCG (p.Ser93delinsIleSerSerGly)
| dbSNP gnomAD v4 |
2 | g.25161608T>A | CA346067397 | POMC | c.277A>T (p.Ser93Cys)
| gnomAD v4 |
2 | g.25161608T>C | CA1555341 | POMC | c.277A>G (p.Ser93Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161608T>G | CA346067398 | POMC | c.277A>C (p.Ser93Arg)
| |
2 | g.25161608T= | CA1239228146 | POMC | c.277A= (p.Ser93=)
| |
2 | g.25161609G>A | CA425179824 | POMC | c.276C>T (p.Ser92=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161609G>C | CA346067399 | POMC | c.276C>G (p.Ser92Arg)
| dbSNP |
2 | g.25161609G= | CA1239228149 | POMC | c.276C= (p.Ser92=)
| |
2 | g.25161609G>T | CA346067400 | POMC | c.276C>A (p.Ser92Arg)
| |
2 | g.25161612_25161613insCCGCTG | CA531358426 | POMC | c.276_277insGGCAGC (p.Ser92_Ser93insGlySer)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161612_25161613insCCGCTGCTGCCGCTG | CA2658163215 | POMC | c.276_277insGGCAGCAGCGGCAGC (p.Ser92_Ser93insGlySerSerGlySer)
| gnomAD v4 |
2 | g.25161612_25161613insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA2658163216 | POMC | c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC (p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySer)
| gnomAD v4 |
2 | g.25161612_25161613insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA2658163214 | POMC | c.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC (p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySer)
| gnomAD v4 |
2 | g.25161610C>A | CA346067401 | POMC | c.275G>T (p.Ser92Ile)
| gnomAD v4 |
2 | g.25161610C>G | CA346067402 | POMC | c.275G>C (p.Ser92Thr)
| |
2 | g.25161610C>T | CA346067403 | POMC | c.275G>A (p.Ser92Asn)
| gnomAD v4 |
2 | g.25161610_25161611insCGCTGCTGCTCC | CA1028505456 | POMC | c.275_276insGAGCAGCAGCGG (p.Ser92delinsArgSerSerSerGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161611T>A | CA346067404 | POMC | c.274A>T (p.Ser92Cys)
| |
2 | g.25161611T>C | CA346067405 | POMC | c.274A>G (p.Ser92Gly)
| dbSNP gnomAD v4 |
2 | g.25161611T>G | CA346067406 | POMC | c.274A>C (p.Ser92Arg)
| |
2 | g.25161611T= | CA1239228155 | POMC | c.274A= (p.Ser92=)
| |
2 | g.25161612G>A | CA1555342 | POMC | c.273C>T (p.Asn91=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161612G>C | CA346067408 | POMC | c.273C>G (p.Asn91Lys)
| gnomAD v4 |
2 | g.25161612G= | CA1239228160 | POMC | c.273C= (p.Asn91=)
| |
2 | g.25161612G>T | CA346067407 | POMC | c.273C>A (p.Asn91Lys)
| gnomAD v4 |
2 | g.25161612_25161613insCTGCCG | CA531358428 | POMC | c.273_274insGGCAGC (p.Asn91_Ser92insGlySer)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161612_25161613insCCGC | CA2658163217 | POMC | c.272_273insGCGG (p.Asn91LysfsTer29)
| gnomAD v4 |
2 | g.25161612_25161613insCTGCTT | CA531358432 | POMC | c.272_273insAAGCAG (p.Asn91delinsLysSerSer)
| gnomAD v2 |
2 | g.25161613T>A | CA346067409 | POMC | c.272A>T (p.Asn91Ile)
| |
2 | g.25161613T>C | CA1555343 | POMC | c.272A>G (p.Asn91Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161613T>G | CA346067410 | POMC | c.272A>C (p.Asn91Thr)
| |
2 | g.25161613T= | CA1239228165 | POMC | c.272A= (p.Asn91=)
| |
2 | g.25161613_25161614insGC | CA2658163218 | POMC | c.271_272insGC (p.Asn91SerfsTer?)
| gnomAD v4 |
2 | g.25161614T>A | CA346067411 | POMC | c.271A>T (p.Asn91Tyr)
| |
2 | g.25161614T>C | CA346067412 | POMC | c.271A>G (p.Asn91Asp)
| gnomAD v4 |
2 | g.25161614T>G | CA346067413 | POMC | c.271A>C (p.Asn91His)
| ClinVar |
2 | g.25161615G>A | CA425179850 | POMC | c.270C>T (p.Arg90=)
| gnomAD v4 |
2 | g.25161615G>C | CA425179846 | POMC | c.270C>G (p.Arg90=)
| |
2 | g.25161615G= | CA1239228174 | POMC | c.270C= (p.Arg90=)
| |
2 | g.25161615G>T | CA425179848 | POMC | c.270C>A (p.Arg90=)
| gnomAD v4 |
2 | g.25161616C>A | CA346067414 | POMC | c.269G>T (p.Arg90Leu)
| gnomAD v4 |
2 | g.25161616C= | CA1239228178 | POMC | c.269G= (p.Arg90=)
| |
2 | g.25161616C>G | CA346067415 | POMC | c.269G>C (p.Arg90Pro)
| gnomAD v4 |
2 | g.25161616C>T | CA346067416 | POMC | c.269G>A (p.Arg90His)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161616dup | CA531358435 | POMC | c.269dup (p.Asn91GlnfsTer28)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161616_25161617insT | CA531358437 | POMC | c.268_269insA (p.Arg90GlnfsTer29)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161617G>A | CA1555344 | POMC | c.268C>T (p.Arg90Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161617G>C | CA346067417 | POMC | c.268C>G (p.Arg90Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161617G= | CA1239228184 | POMC | c.268C= (p.Arg90=)
| |
2 | g.25161617G>T | CA346067418 | POMC | c.268C>A (p.Arg90Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161617_25161618insCTGTT | CA2658163219 | POMC | c.267_268insAACAG (p.Arg90AsnfsTer?)
| gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCT | CA2658163220 | POMC | c.267_268insAGCGGCAGCAG (p.Arg90SerfsTer?)
| gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCT | CA1028505487 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA531358438 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505485 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505474 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA531358439 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505482 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505481 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA2658163221 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| gnomAD v4 |
2 | g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505476 | POMC | c.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161618G>A | CA425179857 | POMC | c.267C>T (p.Arg89=)
| |
2 | g.25161618G>C | CA425179859 | POMC | c.267C>G (p.Arg89=)
| |
2 | g.25161618G>T | CA425179861 | POMC | c.267C>A (p.Arg89=)
| gnomAD v4 |
2 | g.25161619C>A | CA346067419 | POMC | c.266G>T (p.Arg89Leu)
| |
2 | g.25161619C= | CA1239228195 | POMC | c.266G= (p.Arg89=)
| |
2 | g.25161619C>G | CA346067420 | POMC | c.266G>C (p.Arg89Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161619C>T | CA346067421 | POMC | c.266G>A (p.Arg89His)
| gnomAD v4 COSMIC |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCT | CA2658163227 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer36)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCT | CA1028505498 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer37)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA2658163226 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer39)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163225 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer40)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA2658163222 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer42)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163224 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer43)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505497 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer45)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA1028505493 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer46)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505499 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer48)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA1028505495 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer49)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505492 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer57)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163223 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer58)
| gnomAD v4 |
2 | g.25161620G>A | CA346067425 | POMC | c.265C>T (p.Arg89Cys)
| gnomAD v4 COSMIC |
2 | g.25161620G>C | CA346067424 | POMC | c.265C>G (p.Arg89Gly)
| |
2 | g.25161620G= | CA1239228200 | POMC | c.265C= (p.Arg89=)
| |
2 | g.25161620G>T | CA346067423 | POMC | c.265C>A (p.Arg89Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161621dup | CA346067422 | POMC | c.265dup (p.Arg89ProfsTer30)
| dbSNP |
2 | g.25161621G>A | CA425179874 | POMC | c.264C>T (p.Gly88=)
| dbSNP gnomAD v4 |
2 | g.25161621G>C | CA425179871 | POMC | c.264C>G (p.Gly88=)
| gnomAD v4 |
2 | g.25161621G= | CA1239228204 | POMC | c.264C= (p.Gly88=)
| |
2 | g.25161621G>T | CA425179873 | POMC | c.264C>A (p.Gly88=)
| gnomAD v4 |
2 | g.25161622C>A | CA346067426 | POMC | c.263G>T (p.Gly88Val)
| |
2 | g.25161622C= | CA1239228208 | POMC | c.263G= (p.Gly88=)
| |
2 | g.25161622C>G | CA346067427 | POMC | c.263G>C (p.Gly88Ala)
| dbSNP |
2 | g.25161622C>T | CA346067428 | POMC | c.263G>A (p.Gly88Asp)
| |
2 | g.25161622_25161623insTG | CA531358440 | POMC | c.262_263insCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v2 |
2 | g.25161622_25161623insTGCCGCTGCTGCCG | CA2658163228 | POMC | c.262_263insCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTG | CA2658163229 | POMC | c.262_263insCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTG | CA2658163230 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCG | CA2658163231 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505510 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA1028505513 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA2658163232 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505515 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA1028505518 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA1028505521 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA2749203942 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA2749203943 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505523 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA1028505531 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505532 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA1028505536 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505537 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA1028505538 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA531358441 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA2658163233 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA2658163234 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA2658163235 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161623C>A | CA346067429 | POMC | c.262G>T (p.Gly88Cys)
| |
2 | g.25161623C= | CA1239228216 | POMC | c.262G= (p.Gly88=)
| |
2 | g.25161623C>G | CA346067430 | POMC | c.262G>C (p.Gly88Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161623C>T | CA346067431 | POMC | c.262G>A (p.Gly88Ser)
| dbSNP |
2 | g.25161624G>A | CA425179883 | POMC | c.261C>T (p.Phe87=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161624G>C | CA346067432 | POMC | c.261C>G (p.Phe87Leu)
| |
2 | g.25161624G= | CA1239228224 | POMC | c.261C= (p.Phe87=)
| |
2 | g.25161624G>T | CA1555345 | POMC | c.261C>A (p.Phe87Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161624_25161625delinsGA | CA1239228227 | POMC | c.260_261delinsTC (p.Phe87=)
| |
2 | g.25161625A>C | CA346067434 | POMC | c.260T>G (p.Phe87Cys)
| gnomAD v4 |
2 | g.25161625A>G | CA346067435 | POMC | c.260T>C (p.Phe87Ser)
| |
2 | g.25161625A>T | CA346067433 | POMC | c.260T>A (p.Phe87Tyr)
| |
2 | g.25161626del | CA767173724 | POMC | c.260del (p.Phe87SerfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161626A>C | CA346067436 | POMC | c.259T>G (p.Phe87Val)
| |
2 | g.25161626A>G | CA346067437 | POMC | c.259T>C (p.Phe87Leu)
| gnomAD v4 |
2 | g.25161626A>T | CA346067438 | POMC | c.259T>A (p.Phe87Ile)
| |
2 | g.25161627T>A | CA425179892 | POMC | c.258A>T (p.Arg86=)
| |
2 | g.25161627T>C | CA425179893 | POMC | c.258A>G (p.Arg86=)
| |
2 | g.25161627T>G | CA425179895 | POMC | c.258A>C (p.Arg86=)
| |
2 | g.25161628C>A | CA346067439 | POMC | c.257G>T (p.Arg86Leu)
| gnomAD v4 |
2 | g.25161628C= | CA1239228235 | POMC | c.257G= (p.Arg86=)
| |
2 | g.25161628C>G | CA346067440 | POMC | c.257G>C (p.Arg86Pro)
| gnomAD v4 |
2 | g.25161628C>T | CA346067441 | POMC | c.257G>A (p.Arg86Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161629G>A | CA346067442 | POMC | c.256C>T (p.Arg86Ter)
| dbSNP gnomAD v4 |
2 | g.25161629G>C | CA346067443 | POMC | c.256C>G (p.Arg86Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161629G= | CA1239228240 | POMC | c.256C= (p.Arg86=)
| |
2 | g.25161629G>T | CA425179901 | POMC | c.256C>A (p.Arg86=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161630G>A | CA425179904 | POMC | c.255C>T (p.Asp85=)
| dbSNP gnomAD v4 |
2 | g.25161630G>C | CA1555346 | POMC | c.255C>G (p.Asp85Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161630G= | CA1239228242 | POMC | c.255C= (p.Asp85=)
| |
2 | g.25161630G>T | CA346067444 | POMC | c.255C>A (p.Asp85Glu)
| |
2 | g.25161631T>A | CA346067445 | POMC | c.254A>T (p.Asp85Val)
| |
2 | g.25161631T>C | CA346067446 | POMC | c.254A>G (p.Asp85Gly)
| dbSNP gnomAD v4 |
2 | g.25161631T>G | CA346067447 | POMC | c.254A>C (p.Asp85Ala)
| |
2 | g.25161631T= | CA1239228244 | POMC | c.254A= (p.Asp85=)
| |
2 | g.25161632C>A | CA346067450 | POMC | c.253G>T (p.Asp85Tyr)
| gnomAD v4 |
2 | g.25161632C>G | CA346067449 | POMC | c.253G>C (p.Asp85His)
| |
2 | g.25161632C>T | CA346067448 | POMC | c.253G>A (p.Asp85Asn)
| |
2 | g.25161633C>A | CA346067451 | POMC | c.252G>T (p.Trp84Cys)
| |
2 | g.25161633C= | CA1239228249 | POMC | c.252G= (p.Trp84=)
| |
2 | g.25161633C>G | CA346067452 | POMC | c.252G>C (p.Trp84Cys)
| gnomAD v4 |
2 | g.25161633C>T | CA346067453 | POMC | c.252G>A (p.Trp84Ter)
| dbSNP gnomAD v2 gnomAD v4 |