| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7674213_7674962del | CA645588534 | TP53 | c.564_745del c.168_349del c.447_628del c.87_268del n.564_745del n.531_712del | COSMIC COSMIC COSMIC |
| 17 | g.7674797_7674852del | CA891842248 | TP53 | c.672+7_672+62del (p.=) c.276+7_276+62del (p.=) c.555+7_555+62del (p.=) c.195+7_195+62del (p.=) n.672+7_672+62del (p.=) n.935_990del c.393+7_393+62del (p.=) n.67+201_67+256del n.639+7_639+62del (p.=) | |
| 17 | g.7674804C>T | CA001962 | TP53 | c.672+55G>A (p.=) c.276+55G>A (p.=) c.555+55G>A (p.=) c.195+55G>A (p.=) n.672+55G>A (p.=) n.983G>A c.393+55G>A (p.=) n.67+249G>A n.639+55G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674805C>T | CA001970 | TP53 | c.672+54G>A (p.=) c.276+54G>A (p.=) c.555+54G>A (p.=) c.195+54G>A (p.=) n.672+54G>A (p.=) n.982G>A c.393+54G>A (p.=) n.67+248G>A n.639+54G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674807C>T | CA001977 | TP53 | c.672+52G>A (p.=) c.276+52G>A (p.=) c.555+52G>A (p.=) c.195+52G>A (p.=) n.672+52G>A (p.=) n.980G>A c.393+52G>A (p.=) n.67+246G>A n.639+52G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674809G>A | CA287488273 | TP53 | c.672+50C>T (p.=) c.276+50C>T (p.=) c.555+50C>T (p.=) c.195+50C>T (p.=) n.672+50C>T (p.=) n.978C>T c.393+50C>T (p.=) n.67+244C>T n.639+50C>T (p.=) | dbSNP gnomAD |
| 17 | g.7674810A>G | CA001985 | TP53 | c.672+49T>C (p.=) c.276+49T>C (p.=) c.555+49T>C (p.=) c.195+49T>C (p.=) n.672+49T>C (p.=) n.977T>C c.393+49T>C (p.=) n.67+243T>C n.639+49T>C (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674811C>A | CA001992 | TP53 | c.672+48G>T (p.=) c.276+48G>T (p.=) c.555+48G>T (p.=) c.195+48G>T (p.=) n.672+48G>T (p.=) n.976G>T c.393+48G>T (p.=) n.67+242G>T n.639+48G>T (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674811C>T | CA001993 | TP53 | c.672+48G>A (p.=) c.276+48G>A (p.=) c.555+48G>A (p.=) c.195+48G>A (p.=) n.672+48G>A (p.=) n.976G>A c.393+48G>A (p.=) n.67+242G>A n.639+48G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674814C>T | CA624865040 | TP53 | c.672+45G>A (p.=) c.276+45G>A (p.=) c.555+45G>A (p.=) c.195+45G>A (p.=) n.672+45G>A (p.=) n.973G>A c.393+45G>A (p.=) n.67+239G>A n.639+45G>A (p.=) | gnomAD |
| 17 | g.7674818C>A | CA002005 | TP53 | c.672+41G>T (p.=) c.276+41G>T (p.=) c.555+41G>T (p.=) c.195+41G>T (p.=) n.672+41G>T (p.=) n.969G>T c.393+41G>T (p.=) n.67+235G>T n.639+41G>T (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674818C>G | CA624865041 | TP53 | c.672+41G>C (p.=) c.276+41G>C (p.=) c.555+41G>C (p.=) c.195+41G>C (p.=) n.672+41G>C (p.=) n.969G>C c.393+41G>C (p.=) n.67+235G>C n.639+41G>C (p.=) | gnomAD |
| 17 | g.7674819C>A | CA645588690 | TP53 | c.672+40G>T (p.=) c.276+40G>T (p.=) c.555+40G>T (p.=) c.195+40G>T (p.=) n.672+40G>T (p.=) n.968G>T c.393+40G>T (p.=) n.67+234G>T n.639+40G>T (p.=) | COSMIC |
| 17 | g.7674821T>A | CA002012 | TP53 | c.672+38A>T (p.=) c.276+38A>T (p.=) c.555+38A>T (p.=) c.195+38A>T (p.=) n.672+38A>T (p.=) n.966A>T c.393+38A>T (p.=) n.67+232A>T n.639+38A>T (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674822A>G | CA624865042 | TP53 | c.672+37T>C (p.=) c.276+37T>C (p.=) c.555+37T>C (p.=) c.195+37T>C (p.=) n.672+37T>C (p.=) n.965T>C c.393+37T>C (p.=) n.67+231T>C n.639+37T>C (p.=) | gnomAD |
| 17 | g.7674822A>T | CA002020 | TP53 | c.672+37T>A (p.=) c.276+37T>A (p.=) c.555+37T>A (p.=) c.195+37T>A (p.=) n.672+37T>A (p.=) n.965T>A c.393+37T>A (p.=) n.67+231T>A n.639+37T>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674822_7674861del | CA645588691 | TP53 | c.669_672+36del c.273_276+36del c.552_555+36del c.192_195+36del n.669_672+36del n.925_964del c.390_393+36del n.67+191_67+230del n.636_639+36del | COSMIC |
| 17 | g.7674823A>C | CA981210304 | TP53 | c.672+36T>G (p.=) c.276+36T>G (p.=) c.555+36T>G (p.=) c.195+36T>G (p.=) n.672+36T>G (p.=) n.964T>G c.393+36T>G (p.=) n.67+230T>G n.639+36T>G (p.=) | |
| 17 | g.7674823A>G | CA002027 | TP53 | c.672+36T>C (p.=) c.276+36T>C (p.=) c.555+36T>C (p.=) c.195+36T>C (p.=) n.672+36T>C (p.=) n.964T>C c.393+36T>C (p.=) n.67+230T>C n.639+36T>C (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674824C>A | CA000327 | TP53 | c.672+35G>T (p.=) c.276+35G>T (p.=) c.555+35G>T (p.=) c.195+35G>T (p.=) n.672+35G>T (p.=) n.963G>T c.393+35G>T (p.=) n.67+229G>T n.639+35G>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.7674824C>T | CA624865043 | TP53 | c.672+35G>A (p.=) c.276+35G>A (p.=) c.555+35G>A (p.=) c.195+35G>A (p.=) n.672+35G>A (p.=) n.963G>A c.393+35G>A (p.=) n.67+229G>A n.639+35G>A (p.=) | gnomAD |
| 17 | g.7674825C>G | CA002041 | TP53 | c.672+34G>C (p.=) c.276+34G>C (p.=) c.555+34G>C (p.=) c.195+34G>C (p.=) n.672+34G>C (p.=) n.962G>C c.393+34G>C (p.=) n.67+228G>C n.639+34G>C (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674825C>T | CA002039 | TP53 | c.672+34G>A (p.=) c.276+34G>A (p.=) c.555+34G>A (p.=) c.195+34G>A (p.=) n.672+34G>A (p.=) n.962G>A c.393+34G>A (p.=) n.67+228G>A n.639+34G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674827C>A | CA645588692 | TP53 | c.672+32G>T (p.=) c.276+32G>T (p.=) c.555+32G>T (p.=) c.195+32G>T (p.=) n.672+32G>T (p.=) n.960G>T c.393+32G>T (p.=) n.67+226G>T n.639+32G>T (p.=) | COSMIC |
| 17 | g.7674828T>C | CA000325 | TP53 | c.672+31A>G (p.=) c.276+31A>G (p.=) c.555+31A>G (p.=) c.195+31A>G (p.=) n.672+31A>G (p.=) n.959A>G c.393+31A>G (p.=) n.67+225A>G n.639+31A>G (p.=) | ClinVar dbSNP ExAC gnomAD COSMIC |
| 17 | g.7674829C>T | CA002059 | TP53 | c.672+30G>A (p.=) c.276+30G>A (p.=) c.555+30G>A (p.=) c.195+30G>A (p.=) n.672+30G>A (p.=) n.958G>A c.393+30G>A (p.=) n.67+224G>A n.639+30G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674833C>T | CA645588694 | TP53 | c.672+26G>A (p.=) c.276+26G>A (p.=) c.555+26G>A (p.=) c.195+26G>A (p.=) n.672+26G>A (p.=) n.954G>A c.393+26G>A (p.=) n.67+220G>A n.639+26G>A (p.=) | COSMIC |
| 17 | g.7674833_7674834delinsTT | CA645588693 | TP53 | c.672+25_672+26delinsAA (p.=) c.276+25_276+26delinsAA (p.=) c.555+25_555+26delinsAA (p.=) c.195+25_195+26delinsAA (p.=) n.672+25_672+26delinsAA (p.=) n.953_954delinsAA c.393+25_393+26delinsAA (p.=) n.67+219_67+220delinsAA n.639+25_639+26delinsAA (p.=) | COSMIC |
| 17 | g.7674834C>G | CA645588696 | TP53 | c.672+25G>C (p.=) c.276+25G>C (p.=) c.555+25G>C (p.=) c.195+25G>C (p.=) n.672+25G>C (p.=) n.953G>C c.393+25G>C (p.=) n.67+219G>C n.639+25G>C (p.=) | COSMIC |
| 17 | g.7674834C>T | CA645588695 | TP53 | c.672+25G>A (p.=) c.276+25G>A (p.=) c.555+25G>A (p.=) c.195+25G>A (p.=) n.672+25G>A (p.=) n.953G>A c.393+25G>A (p.=) n.67+219G>A n.639+25G>A (p.=) | COSMIC COSMIC |
| 17 | g.7674835A>G | CA624865044 | TP53 | c.672+24T>C (p.=) c.276+24T>C (p.=) c.555+24T>C (p.=) c.195+24T>C (p.=) n.672+24T>C (p.=) n.952T>C c.393+24T>C (p.=) n.67+218T>C n.639+24T>C (p.=) | gnomAD |
| 17 | g.7674835A>T | CA645588697 | TP53 | c.672+24T>A (p.=) c.276+24T>A (p.=) c.555+24T>A (p.=) c.195+24T>A (p.=) n.672+24T>A (p.=) n.952T>A c.393+24T>A (p.=) n.67+218T>A n.639+24T>A (p.=) | COSMIC |
| 17 | g.7674837_7674851del | CA624865045 | TP53 | c.672+7_672+21del (p.=) c.276+7_276+21del (p.=) c.555+7_555+21del (p.=) c.195+7_195+21del (p.=) n.672+7_672+21del (p.=) n.935_949del c.393+7_393+21del (p.=) n.67+201_67+215del n.639+7_639+21del (p.=) | ClinVar dbSNP gnomAD |
| 17 | g.7674838G>A | CA981210336 | TP53 | c.672+21C>T (p.=) c.276+21C>T (p.=) c.555+21C>T (p.=) c.195+21C>T (p.=) n.672+21C>T (p.=) n.949C>T c.393+21C>T (p.=) n.67+215C>T n.639+21C>T (p.=) | |
| 17 | g.7674838G>C | CA002066 | TP53 | c.672+21C>G (p.=) c.276+21C>G (p.=) c.555+21C>G (p.=) c.195+21C>G (p.=) n.672+21C>G (p.=) n.949C>G c.393+21C>G (p.=) n.67+215C>G n.639+21C>G (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674838_7674882del | CA645588698 | TP53 | c.649_672+21del c.253_276+21del c.532_555+21del c.172_195+21del n.649_672+21del n.905_949del c.370_393+21del n.67+171_67+215del n.616_639+21del | COSMIC |
| 17 | g.7674839A>T | CA287488288 | TP53 | c.672+20T>A (p.=) c.276+20T>A (p.=) c.555+20T>A (p.=) c.195+20T>A (p.=) n.672+20T>A (p.=) n.948T>A c.393+20T>A (p.=) n.67+214T>A n.639+20T>A (p.=) | dbSNP |
| 17 | g.7674840C>T | CA624865046 | TP53 | c.672+19G>A (p.=) c.276+19G>A (p.=) c.555+19G>A (p.=) c.195+19G>A (p.=) n.672+19G>A (p.=) n.947G>A c.393+19G>A (p.=) n.67+213G>A n.639+19G>A (p.=) | ClinVar gnomAD |
| 17 | g.7674841C>G | CA000324 | TP53 | c.672+18G>C (p.=) c.276+18G>C (p.=) c.555+18G>C (p.=) c.195+18G>C (p.=) n.672+18G>C (p.=) n.946G>C c.393+18G>C (p.=) n.67+212G>C n.639+18G>C (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.7674842C>A | CA645588699 | TP53 | c.672+17G>T (p.=) c.276+17G>T (p.=) c.555+17G>T (p.=) c.195+17G>T (p.=) n.672+17G>T (p.=) n.945G>T c.393+17G>T (p.=) n.67+211G>T n.639+17G>T (p.=) | COSMIC |
| 17 | g.7674842C>G | CA645588701 | TP53 | c.672+17G>C (p.=) c.276+17G>C (p.=) c.555+17G>C (p.=) c.195+17G>C (p.=) n.672+17G>C (p.=) n.945G>C c.393+17G>C (p.=) n.67+211G>C n.639+17G>C (p.=) | COSMIC |
| 17 | g.7674842C>T | CA645588700 | TP53 | c.672+17G>A (p.=) c.276+17G>A (p.=) c.555+17G>A (p.=) c.195+17G>A (p.=) n.672+17G>A (p.=) n.945G>A c.393+17G>A (p.=) n.67+211G>A n.639+17G>A (p.=) | COSMIC |
| 17 | g.7674843C>T | CA658683988 | TP53 | c.672+16G>A (p.=) c.276+16G>A (p.=) c.555+16G>A (p.=) c.195+16G>A (p.=) n.672+16G>A (p.=) n.944G>A c.393+16G>A (p.=) n.67+210G>A n.639+16G>A (p.=) | ClinVar |
| 17 | g.7674844A>C | CA16607853 | TP53 | c.672+15T>G (p.=) c.276+15T>G (p.=) c.555+15T>G (p.=) c.195+15T>G (p.=) n.672+15T>G (p.=) n.943T>G c.393+15T>G (p.=) n.67+209T>G n.639+15T>G (p.=) | ClinVar |
| 17 | g.7674844A>G | CA002079 | TP53 | c.672+15T>C (p.=) c.276+15T>C (p.=) c.555+15T>C (p.=) c.195+15T>C (p.=) n.672+15T>C (p.=) n.943T>C c.393+15T>C (p.=) n.67+209T>C n.639+15T>C (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.7674845G>A | CA645588702 | TP53 | c.672+14C>T (p.=) c.276+14C>T (p.=) c.555+14C>T (p.=) c.195+14C>T (p.=) n.672+14C>T (p.=) n.942C>T c.393+14C>T (p.=) n.67+208C>T n.639+14C>T (p.=) | COSMIC |
| 17 | g.7674845G>C | CA658683989 | TP53 | c.672+14C>G (p.=) c.276+14C>G (p.=) c.555+14C>G (p.=) c.195+14C>G (p.=) n.672+14C>G (p.=) n.942C>G c.393+14C>G (p.=) n.67+208C>G n.639+14C>G (p.=) | ClinVar |
| 17 | g.7674848G>A | CA645588703 | TP53 | c.672+11C>T (p.=) c.276+11C>T (p.=) c.555+11C>T (p.=) c.195+11C>T (p.=) n.672+11C>T (p.=) n.939C>T c.393+11C>T (p.=) n.67+205C>T n.639+11C>T (p.=) | COSMIC |
| 17 | g.7674850A>G | CA16607883 | TP53 | c.672+9T>C (p.=) c.276+9T>C (p.=) c.555+9T>C (p.=) c.195+9T>C (p.=) n.672+9T>C (p.=) n.937T>C c.393+9T>C (p.=) n.67+203T>C n.639+9T>C (p.=) | ClinVar |
| 17 | g.7674851A>C | CA002087 | TP53 | c.672+8T>G (p.=) c.276+8T>G (p.=) c.555+8T>G (p.=) c.195+8T>G (p.=) n.672+8T>G (p.=) n.936T>G c.393+8T>G (p.=) n.67+202T>G n.639+8T>G (p.=) | dbSNP ExAC gnomAD |