12 | g.91055450del | CA2620149234 | KERA | c.835del (p.Arg279GlufsTer19)
| gnomAD v4 |
12 | g.91055448G>A | CA481306394 | KERA | c.834C>T (p.Pro278=)
| gnomAD v4 |
12 | g.91055448G>C | CA481306396 | KERA | c.834C>G (p.Pro278=)
| |
12 | g.91055448G>T | CA481306395 | KERA | c.834C>A (p.Pro278=)
| |
12 | g.91055449G>A | CA386013253 | KERA | c.833C>T (p.Pro278Leu)
| dbSNP |
12 | g.91055449G>C | CA386013254 | KERA | c.833C>G (p.Pro278Arg)
| |
12 | g.91055449G= | CA2054259620 | KERA | c.833C= (p.Pro278=)
| |
12 | g.91055449G>T | CA386013255 | KERA | c.833C>A (p.Pro278His)
| |
12 | g.91055450G>A | CA6716497 | KERA | c.832C>T (p.Pro278Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.91055450G>C | CA386013256 | KERA | c.832C>G (p.Pro278Ala)
| |
12 | g.91055450G= | CA2054259621 | KERA | c.832C= (p.Pro278=)
| |
12 | g.91055450G>T | CA386013257 | KERA | c.832C>A (p.Pro278Thr)
| |
12 | g.91055451A>C | CA481306398 | KERA | c.831T>G (p.Val277=)
| |
12 | g.91055451A>G | CA481306399 | KERA | c.831T>C (p.Val277=)
| |
12 | g.91055451A>T | CA481306400 | KERA | c.831T>A (p.Val277=)
| |
12 | g.91055452A>C | CA386013258 | KERA | c.830T>G (p.Val277Gly)
| |
12 | g.91055452A>G | CA386013259 | KERA | c.830T>C (p.Val277Ala)
| |
12 | g.91055452A>T | CA386013260 | KERA | c.830T>A (p.Val277Asp)
| |
12 | g.91055453C>A | CA6716499 | KERA | c.829G>T (p.Val277Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055453C= | CA2054259622 | KERA | c.829G= (p.Val277=)
| |
12 | g.91055453C>G | CA386013261 | KERA | c.829G>C (p.Val277Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055453C>T | CA6716498 | KERA | c.829G>A (p.Val277Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055454C>A | CA6716500 | KERA | c.828G>T (p.Lys276Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055454C= | CA2054259623 | KERA | c.828G= (p.Lys276=)
| |
12 | g.91055454C>G | CA6716502 | KERA | c.828G>C (p.Lys276Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055454C>T | CA6716501 | KERA | c.828G>A (p.Lys276=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055455T>A | CA386013262 | KERA | c.827A>T (p.Lys276Met)
| |
12 | g.91055455T>C | CA386013263 | KERA | c.827A>G (p.Lys276Arg)
| |
12 | g.91055455T>G | CA386013264 | KERA | c.827A>C (p.Lys276Thr)
| |
12 | g.91055456T>A | CA386013265 | KERA | c.826A>T (p.Lys276Ter)
| |
12 | g.91055456T>C | CA386013266 | KERA | c.826A>G (p.Lys276Glu)
| gnomAD v4 |
12 | g.91055456T>G | CA386013267 | KERA | c.826A>C (p.Lys276Gln)
| |
12 | g.91055457T>A | CA481306407 | KERA | c.825A>T (p.Thr275=)
| |
12 | g.91055457T>C | CA481306405 | KERA | c.825A>G (p.Thr275=)
| |
12 | g.91055457T>G | CA481306406 | KERA | c.825A>C (p.Thr275=)
| |
12 | g.91055458G>A | CA386013268 | KERA | c.824C>T (p.Thr275Ile)
| gnomAD v4 |
12 | g.91055458G>C | CA386013269 | KERA | c.824C>G (p.Thr275Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.91055458G= | CA2054259624 | KERA | c.824C= (p.Thr275=)
| |
12 | g.91055458G>T | CA386013270 | KERA | c.824C>A (p.Thr275Lys)
| COSMIC |
12 | g.91055459T>A | CA386013271 | KERA | c.823A>T (p.Thr275Ser)
| |
12 | g.91055459T>C | CA386013273 | KERA | c.823A>G (p.Thr275Ala)
| |
12 | g.91055459T>G | CA386013272 | KERA | c.823A>C (p.Thr275Pro)
| gnomAD v4 |
12 | g.91055460G>A | CA481306417 | KERA | c.822C>T (p.Leu274=)
| dbSNP |
12 | g.91055460G>C | CA481306418 | KERA | c.822C>G (p.Leu274=)
| |
12 | g.91055460G>T | CA481306420 | KERA | c.822C>A (p.Leu274=)
| |
12 | g.91055461A>C | CA386013274 | KERA | c.821T>G (p.Leu274Arg)
| |
12 | g.91055461A>G | CA386013275 | KERA | c.821T>C (p.Leu274Pro)
| |
12 | g.91055461A>T | CA386013276 | KERA | c.821T>A (p.Leu274His)
| gnomAD v4 |
12 | g.91055462G>A | CA386013277 | KERA | c.820C>T (p.Leu274Phe)
| |
12 | g.91055462G>C | CA386013278 | KERA | c.820C>G (p.Leu274Val)
| |
12 | g.91055462G>T | CA386013279 | KERA | c.820C>A (p.Leu274Ile)
| |
12 | g.91055463T>A | CA386013280 | KERA | c.819A>T (p.Gln273His)
| |
12 | g.91055463T>C | CA241201216 | KERA | c.819A>G (p.Gln273=)
| dbSNP gnomAD v4 |
12 | g.91055463T>G | CA386013281 | KERA | c.819A>C (p.Gln273His)
| |
12 | g.91055463T= | CA2054259625 | KERA | c.819A= (p.Gln273=)
| |
12 | g.91055464T>A | CA386013282 | KERA | c.818A>T (p.Gln273Leu)
| |
12 | g.91055464T>C | CA386013284 | KERA | c.818A>G (p.Gln273Arg)
| |
12 | g.91055464T>G | CA386013283 | KERA | c.818A>C (p.Gln273Pro)
| |
12 | g.91055465G>A | CA386013285 | KERA | c.817C>T (p.Gln273Ter)
| |
12 | g.91055465G>C | CA386013287 | KERA | c.817C>G (p.Gln273Glu)
| |
12 | g.91055465G>T | CA386013286 | KERA | c.817C>A (p.Gln273Lys)
| |
12 | g.91055466A= | CA2054259626 | KERA | c.816T= (p.Asn272=)
| |
12 | g.91055466A>C | CA386013288 | KERA | c.816T>G (p.Asn272Lys)
| |
12 | g.91055466A>G | CA481306430 | KERA | c.816T>C (p.Asn272=)
| |
12 | g.91055466A>T | CA386013289 | KERA | c.816T>A (p.Asn272Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055467T>A | CA386013290 | KERA | c.815A>T (p.Asn272Ile)
| |
12 | g.91055467T>C | CA386013291 | KERA | c.815A>G (p.Asn272Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055467T>G | CA386013292 | KERA | c.815A>C (p.Asn272Thr)
| |
12 | g.91055467T= | CA2054259627 | KERA | c.815A= (p.Asn272=)
| |
12 | g.91055468T>A | CA386013293 | KERA | c.814A>T (p.Asn272Tyr)
| |
12 | g.91055468T>C | CA386013294 | KERA | c.814A>G (p.Asn272Asp)
| gnomAD v4 |
12 | g.91055468T>G | CA386013295 | KERA | c.814A>C (p.Asn272His)
| |
12 | g.91055469G>A | CA481306435 | KERA | c.813C>T (p.His271=)
| gnomAD v4 |
12 | g.91055469G>C | CA386013296 | KERA | c.813C>G (p.His271Gln)
| |
12 | g.91055469G>T | CA386013297 | KERA | c.813C>A (p.His271Gln)
| |
12 | g.91055470T>A | CA386013300 | KERA | c.812A>T (p.His271Leu)
| |
12 | g.91055470T>C | CA386013298 | KERA | c.812A>G (p.His271Arg)
| gnomAD v4 |
12 | g.91055470T>G | CA386013299 | KERA | c.812A>C (p.His271Pro)
| |
12 | g.91055471G>A | CA386013301 | KERA | c.811C>T (p.His271Tyr)
| |
12 | g.91055471G>C | CA386013302 | KERA | c.811C>G (p.His271Asp)
| |
12 | g.91055471G>T | CA386013303 | KERA | c.811C>A (p.His271Asn)
| |
12 | g.91055472C>A | CA6716504 | KERA | c.810G>T (p.Ser270=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055472C= | CA2054259628 | KERA | c.810G= (p.Ser270=)
| |
12 | g.91055472C>G | CA481306440 | KERA | c.810G>C (p.Ser270=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055472C>T | CA6716503 | KERA | c.810G>A (p.Ser270=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055473G>A | CA6716505 | KERA | c.809C>T (p.Ser270Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.91055473G>C | CA386013304 | KERA | c.809C>G (p.Ser270Trp)
| dbSNP |
12 | g.91055473G= | CA2054259629 | KERA | c.809C= (p.Ser270=)
| |
12 | g.91055473G>T | CA386013305 | KERA | c.809C>A (p.Ser270Ter)
| |
12 | g.91055474A= | CA2054259630 | KERA | c.808T= (p.Ser270=)
| |
12 | g.91055474A>C | CA241201223 | KERA | c.808T>G (p.Ser270Ala)
| dbSNP |
12 | g.91055474A>G | CA386013307 | KERA | c.808T>C (p.Ser270Pro)
| |
12 | g.91055474A>T | CA386013306 | KERA | c.808T>A (p.Ser270Thr)
| |
12 | g.91055475C>A | CA481306447 | KERA | c.807G>T (p.Leu269=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055475C= | CA2054259631 | KERA | c.807G= (p.Leu269=)
| |
12 | g.91055475C>G | CA481306448 | KERA | c.807G>C (p.Leu269=)
| |
12 | g.91055475C>T | CA241201233 | KERA | c.807G>A (p.Leu269=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055476A>C | CA386013308 | KERA | c.806T>G (p.Leu269Arg)
| |
12 | g.91055476A>G | CA386013309 | KERA | c.806T>C (p.Leu269Pro)
| |
12 | g.91055476A>T | CA386013310 | KERA | c.806T>A (p.Leu269Gln)
| |
12 | g.91055477G>A | CA481306450 | KERA | c.805C>T (p.Leu269=)
| |
12 | g.91055477G>C | CA386013311 | KERA | c.805C>G (p.Leu269Val)
| |
12 | g.91055477G>T | CA386013312 | KERA | c.805C>A (p.Leu269Met)
| |
12 | g.91055478T>A | CA386013313 | KERA | c.804A>T (p.Gln268His)
| dbSNP |
12 | g.91055478T>C | CA241201239 | KERA | c.804A>G (p.Gln268=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055478T>G | CA386013314 | KERA | c.804A>C (p.Gln268His)
| |
12 | g.91055478T= | CA2054259632 | KERA | c.804A= (p.Gln268=)
| |
12 | g.91055479T>A | CA386013315 | KERA | c.803A>T (p.Gln268Leu)
| |
12 | g.91055479T>C | CA386013316 | KERA | c.803A>G (p.Gln268Arg)
| |
12 | g.91055479T>G | CA386013317 | KERA | c.803A>C (p.Gln268Pro)
| |
12 | g.91055480G>A | CA386013318 | KERA | c.802C>T (p.Gln268Ter)
| |
12 | g.91055480G>C | CA386013320 | KERA | c.802C>G (p.Gln268Glu)
| |
12 | g.91055480G>T | CA386013319 | KERA | c.802C>A (p.Gln268Lys)
| |
12 | g.91055481A>C | CA481306458 | KERA | c.801T>G (p.Leu267=)
| |
12 | g.91055481A>G | CA481306459 | KERA | c.801T>C (p.Leu267=)
| COSMIC |
12 | g.91055481A>T | CA481306461 | KERA | c.801T>A (p.Leu267=)
| |
12 | g.91055482A>C | CA386013321 | KERA | c.800T>G (p.Leu267Arg)
| |
12 | g.91055482A>G | CA386013322 | KERA | c.800T>C (p.Leu267Pro)
| |
12 | g.91055482A>T | CA386013323 | KERA | c.800T>A (p.Leu267His)
| |
12 | g.91055483G>A | CA241201245 | KERA | c.799C>T (p.Leu267Phe)
| dbSNP gnomAD v4 |
12 | g.91055483G>C | CA386013324 | KERA | c.799C>G (p.Leu267Val)
| gnomAD v4 |
12 | g.91055483G= | CA2054259633 | KERA | c.799C= (p.Leu267=)
| |
12 | g.91055483G>T | CA386013325 | KERA | c.799C>A (p.Leu267Ile)
| gnomAD v4 |
12 | g.91055484A>C | CA386013326 | KERA | c.798T>G (p.Asp266Glu)
| |
12 | g.91055484A>G | CA481306468 | KERA | c.798T>C (p.Asp266=)
| gnomAD v4 |
12 | g.91055484A>T | CA386013327 | KERA | c.798T>A (p.Asp266Glu)
| |
12 | g.91055485T>A | CA386013328 | KERA | c.797A>T (p.Asp266Val)
| |
12 | g.91055485T>C | CA6716506 | KERA | c.797A>G (p.Asp266Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055485T>G | CA386013329 | KERA | c.797A>C (p.Asp266Ala)
| |
12 | g.91055485T= | CA2054259634 | KERA | c.797A= (p.Asp266=)
| |
12 | g.91055486C>A | CA386013330 | KERA | c.796G>T (p.Asp266Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055486C= | CA2054259635 | KERA | c.796G= (p.Asp266=)
| |
12 | g.91055486C>G | CA386013331 | KERA | c.796G>C (p.Asp266His)
| |
12 | g.91055486C>T | CA386013332 | KERA | c.796G>A (p.Asp266Asn)
| |
12 | g.91055487T>A | CA481306475 | KERA | c.795A>T (p.Leu265=)
| |
12 | g.91055487T>C | CA481306476 | KERA | c.795A>G (p.Leu265=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055487T>G | CA481306477 | KERA | c.795A>C (p.Leu265=)
| |
12 | g.91055487T= | CA2054259636 | KERA | c.795A= (p.Leu265=)
| |
12 | g.91055488A= | CA2054259637 | KERA | c.794T= (p.Leu265=)
| |
12 | g.91055488A>C | CA386013333 | KERA | c.794T>G (p.Leu265Arg)
| |
12 | g.91055488A>G | CA6716507 | KERA | c.794T>C (p.Leu265Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055488A>T | CA386013334 | KERA | c.794T>A (p.Leu265Gln)
| |
12 | g.91055489G>A | CA481306478 | KERA | c.793C>T (p.Leu265=)
| |
12 | g.91055489G>C | CA386013335 | KERA | c.793C>G (p.Leu265Val)
| |
12 | g.91055489G>T | CA386013336 | KERA | c.793C>A (p.Leu265Ile)
| |
12 | g.91055490A= | CA2054259638 | KERA | c.792T= (p.Ile264=)
| |
12 | g.91055490A>C | CA386013337 | KERA | c.792T>G (p.Ile264Met)
| |
12 | g.91055490A>G | CA481306480 | KERA | c.792T>C (p.Ile264=)
| |
12 | g.91055490A>T | CA6716508 | KERA | c.792T>A (p.Ile264=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055491A>C | CA386013338 | KERA | c.791T>G (p.Ile264Ser)
| |
12 | g.91055491A>G | CA386013339 | KERA | c.791T>C (p.Ile264Thr)
| |
12 | g.91055491A>T | CA386013340 | KERA | c.791T>A (p.Ile264Asn)
| |
12 | g.91055492T>A | CA386013341 | KERA | c.790A>T (p.Ile264Phe)
| |
12 | g.91055492T>C | CA6716509 | KERA | c.790A>G (p.Ile264Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055492T>G | CA386013342 | KERA | c.790A>C (p.Ile264Leu)
| |
12 | g.91055492T= | CA2054259639 | KERA | c.790A= (p.Ile264=)
| |
12 | g.91055493T>A | CA481306483 | KERA | c.789A>T (p.Ser263=)
| |
12 | g.91055493T>C | CA481306484 | KERA | c.789A>G (p.Ser263=)
| |
12 | g.91055493T>G | CA481306486 | KERA | c.789A>C (p.Ser263=)
| |
12 | g.91055497_91055499del | CA2620149235 | KERA | c.787_789del (p.Ser263del)
| gnomAD v4 |
12 | g.91055494G>A | CA241201269 | KERA | c.788C>T (p.Ser263Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055494G>C | CA386013343 | KERA | c.788C>G (p.Ser263Ter)
| |
12 | g.91055494G= | CA2054259640 | KERA | c.788C= (p.Ser263=)
| |
12 | g.91055494G>T | CA386013344 | KERA | c.788C>A (p.Ser263Ter)
| |
12 | g.91055495A>C | CA386013345 | KERA | c.787T>G (p.Ser263Ala)
| |
12 | g.91055495A>G | CA386013346 | KERA | c.787T>C (p.Ser263Pro)
| |
12 | g.91055495A>T | CA386013347 | KERA | c.787T>A (p.Ser263Thr)
| |
12 | g.91055496T>A | CA6716510 | KERA | c.786A>T (p.Ser262=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055496T>C | CA481306490 | KERA | c.786A>G (p.Ser262=)
| dbSNP gnomAD v4 |
12 | g.91055496T>G | CA481306491 | KERA | c.786A>C (p.Ser262=)
| |
12 | g.91055496T= | CA2054259641 | KERA | c.786A= (p.Ser262=)
| |
12 | g.91055497G>A | CA386013348 | KERA | c.785C>T (p.Ser262Leu)
| |
12 | g.91055497G>C | CA386013349 | KERA | c.785C>G (p.Ser262Ter)
| |
12 | g.91055497G>T | CA386013350 | KERA | c.785C>A (p.Ser262Ter)
| |
12 | g.91055498A>C | CA386013351 | KERA | c.784T>G (p.Ser262Ala)
| |
12 | g.91055498A>G | CA386013353 | KERA | c.784T>C (p.Ser262Pro)
| |
12 | g.91055498A>T | CA386013352 | KERA | c.784T>A (p.Ser262Thr)
| |
12 | g.91055499T>A | CA481306496 | KERA | c.783A>T (p.Val261=)
| |
12 | g.91055499T>C | CA481306493 | KERA | c.783A>G (p.Val261=)
| |
12 | g.91055499T>G | CA481306495 | KERA | c.783A>C (p.Val261=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055499T= | CA2054259642 | KERA | c.783A= (p.Val261=)
| |
12 | g.91055500A= | CA2054259643 | KERA | c.782T= (p.Val261=)
| |
12 | g.91055500A>C | CA386013354 | KERA | c.782T>G (p.Val261Gly)
| |
12 | g.91055500A>G | CA386013355 | KERA | c.782T>C (p.Val261Ala)
| dbSNP COSMIC |
12 | g.91055500A>T | CA386013356 | KERA | c.782T>A (p.Val261Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055501C>A | CA386013357 | KERA | c.781G>T (p.Val261Leu)
| |
12 | g.91055501C>G | CA386013358 | KERA | c.781G>C (p.Val261Leu)
| |
12 | g.91055501C>T | CA386013359 | KERA | c.781G>A (p.Val261Ile)
| gnomAD v4 |
12 | g.91055502A= | CA2054259644 | KERA | c.780T= (p.Asp260=)
| |
12 | g.91055502A>C | CA386013360 | KERA | c.780T>G (p.Asp260Glu)
| dbSNP |
12 | g.91055502A>G | CA481306501 | KERA | c.780T>C (p.Asp260=)
| |
12 | g.91055502A>T | CA386013361 | KERA | c.780T>A (p.Asp260Glu)
| |
12 | g.91055503T>A | CA386013362 | KERA | c.779A>T (p.Asp260Val)
| dbSNP |
12 | g.91055503T>C | CA386013363 | KERA | c.779A>G (p.Asp260Gly)
| dbSNP |
12 | g.91055503T>G | CA386013364 | KERA | c.779A>C (p.Asp260Ala)
| |
12 | g.91055503T= | CA2054259645 | KERA | c.779A= (p.Asp260=)
| |
12 | g.91055505_91055512del | CA2695217070 | KERA | c.772_779del (p.Gly258CysfsTer30)
| |
12 | g.91055504C>A | CA6716511 | KERA | c.778G>T (p.Asp260Tyr)
| dbSNP ExAC |
12 | g.91055504C= | CA2054259646 | KERA | c.778G= (p.Asp260=)
| |
12 | g.91055504C>G | CA386013365 | KERA | c.778G>C (p.Asp260His)
| gnomAD v4 |
12 | g.91055504C>T | CA386013366 | KERA | c.778G>A (p.Asp260Asn)
| |
12 | g.91055505A= | CA2054259647 | KERA | c.777T= (p.Phe259=)
| |
12 | g.91055505A>C | CA386013367 | KERA | c.777T>G (p.Phe259Leu)
| dbSNP |
12 | g.91055505A>G | CA6716512 | KERA | c.777T>C (p.Phe259=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055505A>T | CA386013368 | KERA | c.777T>A (p.Phe259Leu)
| |
12 | g.91055506A>C | CA386013369 | KERA | c.776T>G (p.Phe259Cys)
| |
12 | g.91055506A>G | CA386013370 | KERA | c.776T>C (p.Phe259Ser)
| |
12 | g.91055506A>T | CA386013371 | KERA | c.776T>A (p.Phe259Tyr)
| |
12 | g.91055507A>C | CA386013372 | KERA | c.775T>G (p.Phe259Val)
| |
12 | g.91055507A>G | CA386013373 | KERA | c.775T>C (p.Phe259Leu)
| |
12 | g.91055507A>T | CA386013374 | KERA | c.775T>A (p.Phe259Ile)
| gnomAD v4 |
12 | g.91055508T>A | CA481306510 | KERA | c.774A>T (p.Gly258=)
| |
12 | g.91055508T>C | CA481306511 | KERA | c.774A>G (p.Gly258=)
| |
12 | g.91055508T>G | CA481306512 | KERA | c.774A>C (p.Gly258=)
| |
12 | g.91055509C>A | CA386013377 | KERA | c.773G>T (p.Gly258Val)
| |
12 | g.91055509C>G | CA386013375 | KERA | c.773G>C (p.Gly258Ala)
| |
12 | g.91055509C>T | CA386013376 | KERA | c.773G>A (p.Gly258Glu)
| gnomAD v4 |
12 | g.91055510C>A | CA386013378 | KERA | c.772G>T (p.Gly258Ter)
| |
12 | g.91055510C= | CA2054259648 | KERA | c.772G= (p.Gly258=)
| |
12 | g.91055510C>G | CA386013379 | KERA | c.772G>C (p.Gly258Arg)
| |
12 | g.91055510C>T | CA386013380 | KERA | c.772G>A (p.Gly258Arg)
| dbSNP |
12 | g.91055511T>A | CA386013381 | KERA | c.771A>T (p.Arg257Ser)
| |
12 | g.91055511T>C | CA481306518 | KERA | c.771A>G (p.Arg257=)
| |
12 | g.91055511T>G | CA386013382 | KERA | c.771A>C (p.Arg257Ser)
| |
12 | g.91055512C>A | CA386013383 | KERA | c.770G>T (p.Arg257Ile)
| |
12 | g.91055512C>G | CA386013384 | KERA | c.770G>C (p.Arg257Thr)
| |
12 | g.91055512C>T | CA386013385 | KERA | c.770G>A (p.Arg257Lys)
| gnomAD v4 |
12 | g.91055513T>A | CA386013386 | KERA | c.769A>T (p.Arg257Ter)
| |
12 | g.91055513T>C | CA386013387 | KERA | c.769A>G (p.Arg257Gly)
| gnomAD v4 |
12 | g.91055513T>G | CA481306523 | KERA | c.769A>C (p.Arg257=)
| |
12 | g.91055513_91055514del | CA2620149236 | KERA | c.768_769del (p.Gly258IlefsTer2)
| gnomAD v4 |
12 | g.91055514T>A | CA481306524 | KERA | c.768A>T (p.Ser256=)
| |
12 | g.91055514T>C | CA481306526 | KERA | c.768A>G (p.Ser256=)
| gnomAD v4 |
12 | g.91055514T>G | CA481306527 | KERA | c.768A>C (p.Ser256=)
| gnomAD v4 |
12 | g.91055515G>A | CA386013388 | KERA | c.767C>T (p.Ser256Leu)
| COSMIC |
12 | g.91055515G>C | CA6716514 | KERA | c.767C>G (p.Ser256Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055515G= | CA2054259649 | KERA | c.767C= (p.Ser256=)
| |
12 | g.91055515G>T | CA6716513 | KERA | c.767C>A (p.Ser256Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055516A= | CA2054259650 | KERA | c.766T= (p.Ser256=)
| |
12 | g.91055516A>C | CA386013389 | KERA | c.766T>G (p.Ser256Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055516A>G | CA386013391 | KERA | c.766T>C (p.Ser256Pro)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055516A>T | CA386013390 | KERA | c.766T>A (p.Ser256Thr)
| |
12 | g.91055517T>A | CA481306534 | KERA | c.765A>T (p.Pro255=)
| |
12 | g.91055517T>C | CA481306535 | KERA | c.765A>G (p.Pro255=)
| |
12 | g.91055517T>G | CA481306536 | KERA | c.765A>C (p.Pro255=)
| |
12 | g.91055518G>A | CA386013392 | KERA | c.764C>T (p.Pro255Leu)
| |
12 | g.91055518G>C | CA386013393 | KERA | c.764C>G (p.Pro255Arg)
| |
12 | g.91055518G>T | CA386013394 | KERA | c.764C>A (p.Pro255Gln)
| |
12 | g.91055519G>A | CA386013395 | KERA | c.763C>T (p.Pro255Ser)
| |
12 | g.91055519G>C | CA386013396 | KERA | c.763C>G (p.Pro255Ala)
| |
12 | g.91055519G>T | CA386013397 | KERA | c.763C>A (p.Pro255Thr)
| |
12 | g.91055520G>A | CA481306539 | KERA | c.762C>T (p.Leu254=)
| gnomAD v4 |
12 | g.91055520G>C | CA481306540 | KERA | c.762C>G (p.Leu254=)
| |
12 | g.91055520G>T | CA481306543 | KERA | c.762C>A (p.Leu254=)
| |
12 | g.91055521A= | CA2054259651 | KERA | c.761T= (p.Leu254=)
| |
12 | g.91055521A>C | CA386013398 | KERA | c.761T>G (p.Leu254Arg)
| dbSNP gnomAD v4 |
12 | g.91055521A>G | CA386013399 | KERA | c.761T>C (p.Leu254Pro)
| COSMIC |
12 | g.91055521A>T | CA386013400 | KERA | c.761T>A (p.Leu254His)
| |
12 | g.91055522G>A | CA6716515 | KERA | c.760C>T (p.Leu254Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055522G>C | CA386013401 | KERA | c.760C>G (p.Leu254Val)
| |
12 | g.91055522G= | CA2054259652 | KERA | c.760C= (p.Leu254=)
| |
12 | g.91055522G>T | CA386013402 | KERA | c.760C>A (p.Leu254Ile)
| dbSNP |
12 | g.91055523A>C | CA481306550 | KERA | c.759T>G (p.Gly253=)
| |
12 | g.91055523A>G | CA481306551 | KERA | c.759T>C (p.Gly253=)
| |
12 | g.91055523A>T | CA481306552 | KERA | c.759T>A (p.Gly253=)
| gnomAD v4 |
12 | g.91055524C>A | CA386013403 | KERA | c.758G>T (p.Gly253Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055524C= | CA2054259654 | KERA | c.758G= (p.Gly253=)
| |
12 | g.91055524C>G | CA386013404 | KERA | c.758G>C (p.Gly253Ala)
| |
12 | g.91055524C>T | CA241201288 | KERA | c.758G>A (p.Gly253Asp)
| dbSNP |
12 | g.91055525_91055528del | CA2620149237 | KERA | c.755_758del (p.Glu252ValfsTer13)
| gnomAD v4 |
12 | g.91055524_91055534delinsCCCTCATCTGA | CA2054259653 | KERA | c.748_758delinsTCAGATGAGGG (p.Ser250=)
| |
12 | g.91055525C>A | CA386013405 | KERA | c.757G>T (p.Gly253Cys)
| |
12 | g.91055525C>G | CA386013406 | KERA | c.757G>C (p.Gly253Arg)
| gnomAD v4 |
12 | g.91055525C>T | CA386013407 | KERA | c.757G>A (p.Gly253Ser)
| |
12 | g.91055526_91055535del | CA2054259655 | KERA | c.748_757del (p.Ser250ValfsTer13)
| dbSNP |
12 | g.91055526C>A | CA386013408 | KERA | c.756G>T (p.Glu252Asp)
| |
12 | g.91055526C= | CA2054259656 | KERA | c.756G= (p.Glu252=)
| |
12 | g.91055526C>G | CA386013409 | KERA | c.756G>C (p.Glu252Asp)
| |
12 | g.91055526C>T | CA241201298 | KERA | c.756G>A (p.Glu252=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055527T>A | CA386013410 | KERA | c.755A>T (p.Glu252Val)
| |
12 | g.91055527T>C | CA386013411 | KERA | c.755A>G (p.Glu252Gly)
| |
12 | g.91055527T>G | CA386013412 | KERA | c.755A>C (p.Glu252Ala)
| |
12 | g.91055528C>A | CA386013413 | KERA | c.754G>T (p.Glu252Ter)
| |
12 | g.91055528C= | CA2054259657 | KERA | c.754G= (p.Glu252=)
| |
12 | g.91055528C>G | CA386013415 | KERA | c.754G>C (p.Glu252Gln)
| |
12 | g.91055528C>T | CA386013414 | KERA | c.754G>A (p.Glu252Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055529A>C | CA386013416 | KERA | c.753T>G (p.Asp251Glu)
| |
12 | g.91055529A>G | CA481306568 | KERA | c.753T>C (p.Asp251=)
| gnomAD v4 |
12 | g.91055529A>T | CA386013417 | KERA | c.753T>A (p.Asp251Glu)
| |
12 | g.91055530T>A | CA386013418 | KERA | c.752A>T (p.Asp251Val)
| |
12 | g.91055530T>C | CA386013419 | KERA | c.752A>G (p.Asp251Gly)
| |
12 | g.91055530T>G | CA386013420 | KERA | c.752A>C (p.Asp251Ala)
| |
12 | g.91055530_91055535del | CA2620149238 | KERA | c.747_752del (p.Ser250_Asp251del)
| gnomAD v4 |
12 | g.91055531C>A | CA386013421 | KERA | c.751G>T (p.Asp251Tyr)
| COSMIC |
12 | g.91055531C= | CA2054259658 | KERA | c.751G= (p.Asp251=)
| |
12 | g.91055531C>G | CA386013422 | KERA | c.751G>C (p.Asp251His)
| COSMIC |
12 | g.91055531C>T | CA386013423 | KERA | c.751G>A (p.Asp251Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055532T>A | CA481306570 | KERA | c.750A>T (p.Ser250=)
| |
12 | g.91055532T>C | CA481306573 | KERA | c.750A>G (p.Ser250=)
| |
12 | g.91055532T>G | CA481306571 | KERA | c.750A>C (p.Ser250=)
| |
12 | g.91055533G>A | CA386013424 | KERA | c.749C>T (p.Ser250Leu)
| |
12 | g.91055533G>C | CA386013426 | KERA | c.749C>G (p.Ser250Ter)
| dbSNP |
12 | g.91055533G= | CA2054259659 | KERA | c.749C= (p.Ser250=)
| |
12 | g.91055533G>T | CA386013425 | KERA | c.749C>A (p.Ser250Ter)
| |
12 | g.91055534A= | CA2054259660 | KERA | c.748T= (p.Ser250=)
| |
12 | g.91055534A>C | CA386013427 | KERA | c.748T>G (p.Ser250Ala)
| |
12 | g.91055534A>G | CA386013429 | KERA | c.748T>C (p.Ser250Pro)
| dbSNP gnomAD v4 |
12 | g.91055534A>T | CA386013428 | KERA | c.748T>A (p.Ser250Thr)
| |
12 | g.91055535C>A | CA481306577 | KERA | c.747G>T (p.Leu249=)
| dbSNP |
12 | g.91055535C= | CA2054259661 | KERA | c.747G= (p.Leu249=)
| |
12 | g.91055535C>G | CA481306578 | KERA | c.747G>C (p.Leu249=)
| |
12 | g.91055535C>T | CA481306579 | KERA | c.747G>A (p.Leu249=)
| |
12 | g.91055536A>C | CA386013430 | KERA | c.746T>G (p.Leu249Arg)
| |
12 | g.91055536A>G | CA386013431 | KERA | c.746T>C (p.Leu249Pro)
| |
12 | g.91055536A>T | CA386013432 | KERA | c.746T>A (p.Leu249Gln)
| |
12 | g.91055537G>A | CA481306583 | KERA | c.745C>T (p.Leu249=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055537G>C | CA6716516 | KERA | c.745C>G (p.Leu249Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055537G= | CA2054259662 | KERA | c.745C= (p.Leu249=)
| |
12 | g.91055537G>T | CA386013433 | KERA | c.745C>A (p.Leu249Met)
| |
12 | g.91055538T>A | CA386013434 | KERA | c.744A>T (p.Lys248Asn)
| |
12 | g.91055538T>C | CA481306585 | KERA | c.744A>G (p.Lys248=)
| gnomAD v4 COSMIC |
12 | g.91055538T>G | CA386013435 | KERA | c.744A>C (p.Lys248Asn)
| |
12 | g.91055539T>A | CA386013436 | KERA | c.743A>T (p.Lys248Ile)
| |
12 | g.91055539T>C | CA386013437 | KERA | c.743A>G (p.Lys248Arg)
| gnomAD v4 |
12 | g.91055539T>G | CA6716517 | KERA | c.743A>C (p.Lys248Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055539T= | CA2054259663 | KERA | c.743A= (p.Lys248=)
| |
12 | g.91055540T>A | CA386013440 | KERA | c.742A>T (p.Lys248Ter)
| |
12 | g.91055540T>C | CA386013439 | KERA | c.742A>G (p.Lys248Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055540T>G | CA386013438 | KERA | c.742A>C (p.Lys248Gln)
| |
12 | g.91055540T= | CA2054259664 | KERA | c.742A= (p.Lys248=)
| |
12 | g.91055541G>A | CA6716519 | KERA | c.741C>T (p.Asn247=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055541G>C | CA386013441 | KERA | c.741C>G (p.Asn247Lys)
| |
12 | g.91055541G= | CA2054259665 | KERA | c.741C= (p.Asn247=)
| |
12 | g.91055541G>T | CA6716518 | KERA | c.741C>A (p.Asn247Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055542T>A | CA386013442 | KERA | c.740A>T (p.Asn247Ile)
| |
12 | g.91055542T>C | CA118319 | KERA | c.740A>G (p.Asn247Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055542T>G | CA386013443 | KERA | c.740A>C (p.Asn247Thr)
| |
12 | g.91055542T= | CA2054259666 | KERA | c.740A= (p.Asn247=)
| |
12 | g.91055543T>A | CA386013444 | KERA | c.739A>T (p.Asn247Tyr)
| |
12 | g.91055543T>C | CA386013445 | KERA | c.739A>G (p.Asn247Asp)
| ClinVar |
12 | g.91055543T>G | CA386013446 | KERA | c.739A>C (p.Asn247His)
| |
12 | g.91055544G>A | CA481306593 | KERA | c.738C>T (p.His246=)
| |
12 | g.91055544G>C | CA386013447 | KERA | c.738C>G (p.His246Gln)
| |
12 | g.91055544G>T | CA386013448 | KERA | c.738C>A (p.His246Gln)
| |
12 | g.91055545T>A | CA386013449 | KERA | c.737A>T (p.His246Leu)
| |
12 | g.91055545T>C | CA6716520 | KERA | c.737A>G (p.His246Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055545T>G | CA6716521 | KERA | c.737A>C (p.His246Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055545T= | CA2054259667 | KERA | c.737A= (p.His246=)
| |
12 | g.91055546G>A | CA386013450 | KERA | c.736C>T (p.His246Tyr)
| |
12 | g.91055546G>C | CA386013451 | KERA | c.736C>G (p.His246Asp)
| |
12 | g.91055546G>T | CA386013452 | KERA | c.736C>A (p.His246Asn)
| |
12 | g.91055547A>C | CA386013453 | KERA | c.735T>G (p.Asn245Lys)
| |
12 | g.91055547A>G | CA481306602 | KERA | c.735T>C (p.Asn245=)
| |
12 | g.91055547A>T | CA386013454 | KERA | c.735T>A (p.Asn245Lys)
| |
12 | g.91055548T>A | CA386013455 | KERA | c.734A>T (p.Asn245Ile)
| |
12 | g.91055548T>C | CA386013456 | KERA | c.734A>G (p.Asn245Ser)
| |
12 | g.91055548T>G | CA386013457 | KERA | c.734A>C (p.Asn245Thr)
| |