2 | g.25161573_25161589delinsGCGCTTCTGCCCTGCGC | CA1239227846 | POMC | c.296_312delinsGCGCAGGGCAGAAGCGC (p.Gly99=)
| |
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.25161584_25161599dup | CA767173506 | POMC | c.291_306dup (p.Lys103GlnfsTer21)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161584del | CA531760852 | POMC | c.303del (p.Gln102ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
2 | g.25161634C>A | CA346067454 | POMC | c.251G>T (p.Trp84Leu)
| |
2 | g.25161634C= | CA1239228257 | POMC | c.251G= (p.Trp84=)
| |
2 | g.25161634C>G | CA346067455 | POMC | c.251G>C (p.Trp84Ser)
| |
2 | g.25161634C>T | CA1555347 | POMC | c.251G>A (p.Trp84Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161635A= | CA1239228270 | POMC | c.250T= (p.Trp84=)
| |
2 | g.25161635A>C | CA346067456 | POMC | c.250T>G (p.Trp84Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161635A>G | CA1555348 | POMC | c.250T>C (p.Trp84Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161635A>T | CA346067457 | POMC | c.250T>A (p.Trp84Arg)
| |
2 | g.25161636G>A | CA425179920 | POMC | c.249C>T (p.Arg83=)
| gnomAD v4 |
2 | g.25161636G>C | CA425179922 | POMC | c.249C>G (p.Arg83=)
| |
2 | g.25161636G>T | CA425179923 | POMC | c.249C>A (p.Arg83=)
| |
2 | g.25161637C>A | CA346067458 | POMC | c.248G>T (p.Arg83Leu)
| gnomAD v4 |
2 | g.25161637C= | CA1239228284 | POMC | c.248G= (p.Arg83=)
| |
2 | g.25161637C>G | CA346067459 | POMC | c.248G>C (p.Arg83Pro)
| |
2 | g.25161637C>T | CA43684950 | POMC | c.248G>A (p.Arg83His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161638G>A | CA346067462 | POMC | c.247C>T (p.Arg83Cys)
| |
2 | g.25161638G>C | CA346067461 | POMC | c.247C>G (p.Arg83Gly)
| |
2 | g.25161638G>T | CA346067460 | POMC | c.247C>A (p.Arg83Ser)
| |
2 | g.25161639G>A | CA425179931 | POMC | c.246C>T (p.Phe82=)
| dbSNP gnomAD v4 |
2 | g.25161639G>C | CA346067463 | POMC | c.246C>G (p.Phe82Leu)
| |
2 | g.25161639G>T | CA346067464 | POMC | c.246C>A (p.Phe82Leu)
| gnomAD v4 |
2 | g.25161640A>C | CA346067465 | POMC | c.245T>G (p.Phe82Cys)
| |
2 | g.25161640A>G | CA346067466 | POMC | c.245T>C (p.Phe82Ser)
| gnomAD v4 |
2 | g.25161640A>T | CA346067467 | POMC | c.245T>A (p.Phe82Tyr)
| |
2 | g.25161641A= | CA1239228290 | POMC | c.244T= (p.Phe82=)
| |
2 | g.25161641A>C | CA1555349 | POMC | c.244T>G (p.Phe82Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161641A>G | CA346067468 | POMC | c.244T>C (p.Phe82Leu)
| |
2 | g.25161641A>T | CA346067469 | POMC | c.244T>A (p.Phe82Ile)
| |
2 | g.25161642G>A | CA1555350 | POMC | c.243C>T (p.His81=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161642G>C | CA346067470 | POMC | c.243C>G (p.His81Gln)
| |
2 | g.25161642G= | CA1239228303 | POMC | c.243C= (p.His81=)
| |
2 | g.25161642G>T | CA346067471 | POMC | c.243C>A (p.His81Gln)
| |
2 | g.25161643T>A | CA346067472 | POMC | c.242A>T (p.His81Leu)
| gnomAD v4 |
2 | g.25161643T>C | CA346067473 | POMC | c.242A>G (p.His81Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161643T>G | CA346067474 | POMC | c.242A>C (p.His81Pro)
| |
2 | g.25161643T= | CA1239228307 | POMC | c.242A= (p.His81=)
| |
2 | g.25161644G>A | CA346067477 | POMC | c.241C>T (p.His81Tyr)
| gnomAD v4 |
2 | g.25161644G>C | CA346067475 | POMC | c.241C>G (p.His81Asp)
| |
2 | g.25161644G>T | CA346067476 | POMC | c.241C>A (p.His81Asn)
| |
2 | g.25161645G>A | CA425179951 | POMC | c.240C>T (p.Gly80=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161645G>C | CA425179952 | POMC | c.240C>G (p.Gly80=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161645G= | CA1239228312 | POMC | c.240C= (p.Gly80=)
| |
2 | g.25161645G>T | CA425179954 | POMC | c.240C>A (p.Gly80=)
| |
2 | g.25161646C>A | CA346067478 | POMC | c.239G>T (p.Gly80Val)
| gnomAD v4 |
2 | g.25161646C>G | CA346067479 | POMC | c.239G>C (p.Gly80Ala)
| |
2 | g.25161646C>T | CA346067480 | POMC | c.239G>A (p.Gly80Asp)
| gnomAD v4 |
2 | g.25161647C>A | CA346067481 | POMC | c.238G>T (p.Gly80Cys)
| gnomAD v4 |
2 | g.25161647C= | CA1239228319 | POMC | c.238G= (p.Gly80=)
| |
2 | g.25161647C>G | CA346067482 | POMC | c.238G>C (p.Gly80Arg)
| |
2 | g.25161647C>T | CA346067483 | POMC | c.238G>A (p.Gly80Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161648C>A | CA346067484 | POMC | c.237G>T (p.Met79Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C= | CA1239228323 | POMC | c.237G= (p.Met79=)
| |
2 | g.25161648C>G | CA346067485 | POMC | c.237G>C (p.Met79Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C>T | CA346067486 | POMC | c.237G>A (p.Met79Ile)
| gnomAD v4 |
2 | g.25161649A>C | CA346067487 | POMC | c.236T>G (p.Met79Arg)
| |
2 | g.25161649A>G | CA346067488 | POMC | c.236T>C (p.Met79Thr)
| |
2 | g.25161649A>T | CA346067489 | POMC | c.236T>A (p.Met79Lys)
| |
2 | g.25161649_25161662del | CA2576693518 | POMC | c.223_236del (p.Arg75GlyfsTer?)
| |
2 | g.25161650T>A | CA346067492 | POMC | c.235A>T (p.Met79Leu)
| |
2 | g.25161650T>C | CA346067491 | POMC | c.235A>G (p.Met79Val)
| |
2 | g.25161650T>G | CA346067490 | POMC | c.235A>C (p.Met79Leu)
| |
2 | g.25161651G>A | CA425179972 | POMC | c.234C>T (p.Val78=)
| |
2 | g.25161651G>C | CA425179973 | POMC | c.234C>G (p.Val78=)
| |
2 | g.25161651G= | CA1239228327 | POMC | c.234C= (p.Val78=)
| |
2 | g.25161651G>T | CA425179975 | POMC | c.234C>A (p.Val78=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161652A>C | CA346067495 | POMC | c.233T>G (p.Val78Gly)
| gnomAD v4 |
2 | g.25161652A>G | CA346067493 | POMC | c.233T>C (p.Val78Ala)
| |
2 | g.25161652A>T | CA346067494 | POMC | c.233T>A (p.Val78Asp)
| |
2 | g.25161653C>A | CA346067496 | POMC | c.232G>T (p.Val78Phe)
| gnomAD v4 |
2 | g.25161653C>G | CA346067497 | POMC | c.232G>C (p.Val78Leu)
| |
2 | g.25161653C>T | CA346067498 | POMC | c.232G>A (p.Val78Ile)
| gnomAD v4 |
2 | g.25161654G>A | CA1555351 | POMC | c.231C>T (p.Tyr77=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161654G>C | CA346067499 | POMC | c.231C>G (p.Tyr77Ter)
| |
2 | g.25161654G= | CA1239228329 | POMC | c.231C= (p.Tyr77=)
| |
2 | g.25161654G>T | CA346067500 | POMC | c.231C>A (p.Tyr77Ter)
| gnomAD v4 |
2 | g.25161655T>A | CA346067501 | POMC | c.230A>T (p.Tyr77Phe)
| |
2 | g.25161655T>C | CA346067502 | POMC | c.230A>G (p.Tyr77Cys)
| gnomAD v4 |
2 | g.25161655T>G | CA346067503 | POMC | c.230A>C (p.Tyr77Ser)
| |
2 | g.25161656A>C | CA346067504 | POMC | c.229T>G (p.Tyr77Asp)
| gnomAD v4 |
2 | g.25161656A>G | CA346067505 | POMC | c.229T>C (p.Tyr77His)
| |
2 | g.25161656A>T | CA346067506 | POMC | c.229T>A (p.Tyr77Asn)
| |
2 | g.25161657C>A | CA346067507 | POMC | c.228G>T (p.Lys76Asn)
| |
2 | g.25161657C= | CA1239228333 | POMC | c.228G= (p.Lys76=)
| |
2 | g.25161657C>G | CA346067508 | POMC | c.228G>C (p.Lys76Asn)
| |
2 | g.25161657C>T | CA425179991 | POMC | c.228G>A (p.Lys76=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161658T>A | CA346067509 | POMC | c.227A>T (p.Lys76Met)
| |
2 | g.25161658T>C | CA346067510 | POMC | c.227A>G (p.Lys76Arg)
| |
2 | g.25161658T>G | CA346067511 | POMC | c.227A>C (p.Lys76Thr)
| |
2 | g.25161659T>A | CA346067512 | POMC | c.226A>T (p.Lys76Ter)
| |
2 | g.25161659T>C | CA346067513 | POMC | c.226A>G (p.Lys76Glu)
| |
2 | g.25161659T>G | CA43684965 | POMC | c.226A>C (p.Lys76Gln)
| dbSNP gnomAD v4 |
2 | g.25161659T= | CA1239228334 | POMC | c.226A= (p.Lys76=)
| |
2 | g.25161659_25161660delinsTC | CA1239228335 | POMC | c.225_226delinsGA (p.Arg75=)
| |
2 | g.25161660C>A | CA425180001 | POMC | c.225G>T (p.Arg75=)
| |
2 | g.25161660C= | CA1239228339 | POMC | c.225G= (p.Arg75=)
| |
2 | g.25161660C>G | CA425180002 | POMC | c.225G>C (p.Arg75=)
| |
2 | g.25161660C>T | CA1555352 | POMC | c.225G>A (p.Arg75=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161661del | CA913189932 | POMC | c.225del (p.Lys76SerfsTer?)
| ClinVar dbSNP |
2 | g.25161661C>A | CA346067514 | POMC | c.224G>T (p.Arg75Leu)
| |
2 | g.25161661C>G | CA346067515 | POMC | c.224G>C (p.Arg75Pro)
| |
2 | g.25161661C>T | CA346067516 | POMC | c.224G>A (p.Arg75Gln)
| gnomAD v4 |
2 | g.25161662G>A | CA346067517 | POMC | c.223C>T (p.Arg75Trp)
| |
2 | g.25161662G>C | CA346067518 | POMC | c.223C>G (p.Arg75Gly)
| gnomAD v4 |
2 | g.25161662G>T | CA425180009 | POMC | c.223C>A (p.Arg75=)
| gnomAD v4 |
2 | g.25161666dup | CA2586968733 | POMC | c.223dup (p.Arg75ProfsTer?)
| |
2 | g.25161663G>A | CA425180013 | POMC | c.222C>T (p.Pro74=)
| gnomAD v4 |
2 | g.25161663G>C | CA425180012 | POMC | c.222C>G (p.Pro74=)
| |
2 | g.25161663G>T | CA425180015 | POMC | c.222C>A (p.Pro74=)
| gnomAD v4 |
2 | g.25161663_25161678delinsGGGGTTCTCGGTCAGA | CA1239228340 | POMC | c.207_222delinsTCTGACCGAGAACCCC (p.Pro69=)
| |
2 | g.25161664G>A | CA346067520 | POMC | c.221C>T (p.Pro74Leu)
| gnomAD v4 |
2 | g.25161664G>C | CA346067521 | POMC | c.221C>G (p.Pro74Arg)
| |
2 | g.25161664G= | CA1239228342 | POMC | c.221C= (p.Pro74=)
| |
2 | g.25161664G>T | CA346067519 | POMC | c.221C>A (p.Pro74His)
| ClinVar dbSNP gnomAD v4 |
2 | g.25161666_25161680del | CA767173809 | POMC | c.207_221del (p.Leu70_Pro74del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161665G>A | CA346067522 | POMC | c.220C>T (p.Pro74Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161665G>C | CA346067524 | POMC | c.220C>G (p.Pro74Ala)
| |
2 | g.25161665G= | CA1239228344 | POMC | c.220C= (p.Pro74=)
| |
2 | g.25161665G>T | CA346067523 | POMC | c.220C>A (p.Pro74Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161666G>A | CA425180023 | POMC | c.219C>T (p.Asn73=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161666G>C | CA346067525 | POMC | c.219C>G (p.Asn73Lys)
| |
2 | g.25161666G= | CA1239228345 | POMC | c.219C= (p.Asn73=)
| |
2 | g.25161666G>T | CA346067526 | POMC | c.219C>A (p.Asn73Lys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161667T>A | CA346067527 | POMC | c.218A>T (p.Asn73Ile)
| |
2 | g.25161667T>C | CA346067528 | POMC | c.218A>G (p.Asn73Ser)
| |
2 | g.25161667T>G | CA346067529 | POMC | c.218A>C (p.Asn73Thr)
| dbSNP |
2 | g.25161668T>A | CA346067530 | POMC | c.217A>T (p.Asn73Tyr)
| |
2 | g.25161668T>C | CA346067531 | POMC | c.217A>G (p.Asn73Asp)
| gnomAD v4 |
2 | g.25161668T>G | CA346067532 | POMC | c.217A>C (p.Asn73His)
| |
2 | g.25161669C>A | CA43684979 | POMC | c.216G>T (p.Glu72Asp)
| dbSNP gnomAD v4 |
2 | g.25161669C= | CA1239228348 | POMC | c.216G= (p.Glu72=)
| |
2 | g.25161669C>G | CA346067533 | POMC | c.216G>C (p.Glu72Asp)
| |
2 | g.25161669C>T | CA43684975 | POMC | c.216G>A (p.Glu72=)
| dbSNP gnomAD v2 |
2 | g.25161670T>A | CA346067536 | POMC | c.215A>T (p.Glu72Val)
| |
2 | g.25161670T>C | CA346067535 | POMC | c.215A>G (p.Glu72Gly)
| |
2 | g.25161670T>G | CA346067534 | POMC | c.215A>C (p.Glu72Ala)
| |
2 | g.25161671C>A | CA346067537 | POMC | c.214G>T (p.Glu72Ter)
| |
2 | g.25161671C>G | CA346067538 | POMC | c.214G>C (p.Glu72Gln)
| |
2 | g.25161671C>T | CA346067539 | POMC | c.214G>A (p.Glu72Lys)
| gnomAD v4 |
2 | g.25161672G>A | CA1555353 | POMC | c.213C>T (p.Thr71=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161672G>C | CA1555354 | POMC | c.213C>G (p.Thr71=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161672G= | CA1239228355 | POMC | c.213C= (p.Thr71=)
| |
2 | g.25161672G>T | CA425180041 | POMC | c.213C>A (p.Thr71=)
| dbSNP gnomAD v4 |
2 | g.25161673G>A | CA346067540 | POMC | c.212C>T (p.Thr71Ile)
| |
2 | g.25161673G>C | CA346067541 | POMC | c.212C>G (p.Thr71Ser)
| gnomAD v4 |
2 | g.25161673G>T | CA346067542 | POMC | c.212C>A (p.Thr71Asn)
| |
2 | g.25161674del | CA2658163236 | POMC | c.211del (p.Thr71ProfsTer?)
| gnomAD v4 |
2 | g.25161674T>A | CA346067543 | POMC | c.211A>T (p.Thr71Ser)
| |
2 | g.25161674T>C | CA346067544 | POMC | c.211A>G (p.Thr71Ala)
| |
2 | g.25161674T>G | CA346067545 | POMC | c.211A>C (p.Thr71Pro)
| |
2 | g.25161675C>A | CA425180050 | POMC | c.210G>T (p.Leu70=)
| gnomAD v4 |
2 | g.25161675C>G | CA425180051 | POMC | c.210G>C (p.Leu70=)
| |
2 | g.25161675C>T | CA425180053 | POMC | c.210G>A (p.Leu70=)
| gnomAD v4 |
2 | g.25161676A= | CA1239228360 | POMC | c.209T= (p.Leu70=)
| |
2 | g.25161676A>C | CA346067547 | POMC | c.209T>G (p.Leu70Arg)
| gnomAD v4 |
2 | g.25161676A>G | CA346067548 | POMC | c.209T>C (p.Leu70Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161676A>T | CA346067546 | POMC | c.209T>A (p.Leu70Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161677G>A | CA425180059 | POMC | c.208C>T (p.Leu70=)
| |
2 | g.25161677G>C | CA346067549 | POMC | c.208C>G (p.Leu70Val)
| |
2 | g.25161677G>T | CA346067550 | POMC | c.208C>A (p.Leu70Met)
| gnomAD v4 |
2 | g.25161678A>C | CA425180063 | POMC | c.207T>G (p.Pro69=)
| gnomAD v4 |
2 | g.25161678A>G | CA425180064 | POMC | c.207T>C (p.Pro69=)
| gnomAD v4 |
2 | g.25161678A>T | CA425180066 | POMC | c.207T>A (p.Pro69=)
| |
2 | g.25161678_25161691del | CA2658163237 | POMC | c.194_207del (p.Gly65AlafsTer?)
| gnomAD v4 |
2 | g.25161679G>A | CA1555355 | POMC | c.206C>T (p.Pro69Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161679G>C | CA346067551 | POMC | c.206C>G (p.Pro69Arg)
| COSMIC |
2 | g.25161679G= | CA1239228363 | POMC | c.206C= (p.Pro69=)
| |
2 | g.25161679G>T | CA346067552 | POMC | c.206C>A (p.Pro69His)
| gnomAD v4 |
2 | g.25161680del | CA2586968734 | POMC | c.206del (p.Pro69LeufsTer2)
| |
2 | g.25161680G>A | CA346067553 | POMC | c.205C>T (p.Pro69Ser)
| |
2 | g.25161680G>C | CA346067554 | POMC | c.205C>G (p.Pro69Ala)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161680G= | CA1239228366 | POMC | c.205C= (p.Pro69=)
| |
2 | g.25161680G>T | CA346067555 | POMC | c.205C>A (p.Pro69Thr)
| gnomAD v4 |
2 | g.25161681C>A | CA346067556 | POMC | c.204G>T (p.Gln68His)
| gnomAD v4 |
2 | g.25161681C>G | CA346067557 | POMC | c.204G>C (p.Gln68His)
| gnomAD v4 |
2 | g.25161681C>T | CA425180075 | POMC | c.204G>A (p.Gln68=)
| |
2 | g.25161682T>A | CA346067558 | POMC | c.203A>T (p.Gln68Leu)
| |
2 | g.25161682T>C | CA346067559 | POMC | c.203A>G (p.Gln68Arg)
| |
2 | g.25161682T>G | CA346067560 | POMC | c.203A>C (p.Gln68Pro)
| gnomAD v4 |
2 | g.25161683G>A | CA346067563 | POMC | c.202C>T (p.Gln68Ter)
| gnomAD v4 |
2 | g.25161683G>C | CA346067562 | POMC | c.202C>G (p.Gln68Glu)
| |
2 | g.25161683G= | CA1239228370 | POMC | c.202C= (p.Gln68=)
| |
2 | g.25161683G>T | CA346067561 | POMC | c.202C>A (p.Gln68Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161684C>A | CA346067564 | POMC | c.201G>T (p.Glu67Asp)
| |
2 | g.25161684C= | CA1239228374 | POMC | c.201G= (p.Glu67=)
| |
2 | g.25161684C>G | CA1555356 | POMC | c.201G>C (p.Glu67Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161684C>T | CA425180079 | POMC | c.201G>A (p.Glu67=)
| dbSNP gnomAD v4 |