20 | g.10673463_10673483del | CA2695229364 | JAG1 | c.53_73del (p.Leu18_Leu24del)
| |
20 | g.10673464_10673469delinsACAGG | CA2695229365 | JAG1 | c.62_67delinsCCTGT (p.Leu21ProfsTer25)
| |
20 | g.10673469A= | CA2349895568 | JAG1 | c.62T= (p.Leu21=)
| |
20 | g.10673469A>C | CA408244120 | JAG1 | c.62T>G (p.Leu21Arg)
| |
20 | g.10673469A>G | CA10577625 | JAG1 | c.62T>C (p.Leu21Pro)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673469A>T | CA408244118 | JAG1 | c.62T>A (p.Leu21His)
| |
20 | g.10673470G>A | CA408244124 | JAG1 | c.61C>T (p.Leu21Phe)
| gnomAD v4 |
20 | g.10673470G>C | CA408244126 | JAG1 | c.61C>G (p.Leu21Val)
| ClinVar |
20 | g.10673470G>T | CA408244127 | JAG1 | c.61C>A (p.Leu21Ile)
| gnomAD v4 |
20 | g.10673471del | CA2651919444 | JAG1 | c.60del (p.Leu21SerfsTer25)
| gnomAD v4 |
20 | g.10673471C>A | CA509663277 | JAG1 | c.60G>T (p.Leu20=)
| gnomAD v4 |
20 | g.10673471C>G | CA509663279 | JAG1 | c.60G>C (p.Leu20=)
| gnomAD v4 |
20 | g.10673471C>T | CA509663281 | JAG1 | c.60G>A (p.Leu20=)
| gnomAD v4 |
20 | g.10673472A= | CA2349895569 | JAG1 | c.59T= (p.Leu20=)
| |
20 | g.10673472A>C | CA408244130 | JAG1 | c.59T>G (p.Leu20Arg)
| |
20 | g.10673472A>G | CA408244132 | JAG1 | c.59T>C (p.Leu20Pro)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673472A>T | CA408244134 | JAG1 | c.59T>A (p.Leu20Gln)
| |
20 | g.10673473G>A | CA509663286 | JAG1 | c.58C>T (p.Leu20=)
| gnomAD v4 |
20 | g.10673473G>C | CA408244136 | JAG1 | c.58C>G (p.Leu20Val)
| gnomAD v4 |
20 | g.10673473G>T | CA408244138 | JAG1 | c.58C>A (p.Leu20Met)
| gnomAD v4 |
20 | g.10673475del | CA2815265202 | JAG1 | c.58del (p.Leu20CysfsTer26)
| |
20 | g.10673474G>A | CA509663294 | JAG1 | c.57C>T (p.Ala19=)
| dbSNP gnomAD v4 |
20 | g.10673474G>C | CA509663292 | JAG1 | c.57C>G (p.Ala19=)
| |
20 | g.10673474G= | CA2349895570 | JAG1 | c.57C= (p.Ala19=)
| |
20 | g.10673474G>T | CA509663290 | JAG1 | c.57C>A (p.Ala19=)
| gnomAD v4 |
20 | g.10673475G>A | CA10606198 | JAG1 | c.56C>T (p.Ala19Val)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673475G>C | CA408244143 | JAG1 | c.56C>G (p.Ala19Gly)
| |
20 | g.10673475G= | CA2349895571 | JAG1 | c.56C= (p.Ala19=)
| |
20 | g.10673475G>T | CA408244145 | JAG1 | c.56C>A (p.Ala19Asp)
| gnomAD v4 |
20 | g.10673476C>A | CA408244150 | JAG1 | c.55G>T (p.Ala19Ser)
| gnomAD v4 |
20 | g.10673476C>G | CA408244146 | JAG1 | c.55G>C (p.Ala19Pro)
| gnomAD v4 |
20 | g.10673476C>T | CA408244148 | JAG1 | c.55G>A (p.Ala19Thr)
| gnomAD v4 |
20 | g.10673477G>A | CA9765232 | JAG1 | c.54C>T (p.Leu18=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673477G>C | CA509663302 | JAG1 | c.54C>G (p.Leu18=)
| |
20 | g.10673477G= | CA2349895572 | JAG1 | c.54C= (p.Leu18=)
| |
20 | g.10673477G>T | CA509663304 | JAG1 | c.54C>A (p.Leu18=)
| gnomAD v4 |
20 | g.10673478A>C | CA408244154 | JAG1 | c.53T>G (p.Leu18Arg)
| ClinVar |
20 | g.10673478A>G | CA408244156 | JAG1 | c.53T>C (p.Leu18Pro)
| gnomAD v4 |
20 | g.10673478A>T | CA408244158 | JAG1 | c.53T>A (p.Leu18His)
| gnomAD v4 |
20 | g.10673479G>A | CA408244161 | JAG1 | c.52C>T (p.Leu18Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673479G>C | CA408244163 | JAG1 | c.52C>G (p.Leu18Val)
| |
20 | g.10673479G= | CA2349895573 | JAG1 | c.52C= (p.Leu18=)
| |
20 | g.10673479G>T | CA408244165 | JAG1 | c.52C>A (p.Leu18Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673480del | CA2651919445 | JAG1 | c.51del (p.Leu18SerfsTer28)
| gnomAD v4 |
20 | g.10673480C>A | CA509663311 | JAG1 | c.51G>T (p.Leu17=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673480C= | CA2349895574 | JAG1 | c.51G= (p.Leu17=)
| |
20 | g.10673480C>G | CA509663314 | JAG1 | c.51G>C (p.Leu17=)
| |
20 | g.10673480C>T | CA311357560 | JAG1 | c.51G>A (p.Leu17=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673481A>C | CA408244168 | JAG1 | c.50T>G (p.Leu17Arg)
| |
20 | g.10673481A>G | CA408244171 | JAG1 | c.50T>C (p.Leu17Pro)
| gnomAD v4 |
20 | g.10673481A>T | CA408244173 | JAG1 | c.50T>A (p.Leu17Gln)
| |
20 | g.10673482G>A | CA509663318 | JAG1 | c.49C>T (p.Leu17=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.10673482G>C | CA408244176 | JAG1 | c.49C>G (p.Leu17Val)
| |
20 | g.10673482G= | CA2349895575 | JAG1 | c.49C= (p.Leu17=)
| |
20 | g.10673482G>T | CA408244178 | JAG1 | c.49C>A (p.Leu17Met)
| gnomAD v4 |
20 | g.10673483G>A | CA509663325 | JAG1 | c.48C>T (p.Leu16=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673483G>C | CA509663323 | JAG1 | c.48C>G (p.Leu16=)
| |
20 | g.10673483G= | CA2349895576 | JAG1 | c.48C= (p.Leu16=)
| |
20 | g.10673483G>T | CA311357562 | JAG1 | c.48C>A (p.Leu16=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.10673484A>C | CA408244185 | JAG1 | c.47T>G (p.Leu16Arg)
| |
20 | g.10673484A>G | CA408244183 | JAG1 | c.47T>C (p.Leu16Pro)
| gnomAD v4 |
20 | g.10673484A>T | CA408244181 | JAG1 | c.47T>A (p.Leu16His)
| gnomAD v4 |
20 | g.10673485G>A | CA408244187 | JAG1 | c.46C>T (p.Leu16Phe)
| gnomAD v4 |
20 | g.10673485G>C | CA408244189 | JAG1 | c.46C>G (p.Leu16Val)
| |
20 | g.10673485G>T | CA408244191 | JAG1 | c.46C>A (p.Leu16Ile)
| gnomAD v4 |
20 | g.10673486G>A | CA509663333 | JAG1 | c.45C>T (p.Ser15=)
| gnomAD v4 |
20 | g.10673486G>C | CA408244193 | JAG1 | c.45C>G (p.Ser15Arg)
| |
20 | g.10673486G>T | CA408244195 | JAG1 | c.45C>A (p.Ser15Arg)
| gnomAD v4 |
20 | g.10673488_10673498del | CA2695229367 | JAG1 | c.35_45del (p.Arg12ProfsTer?)
| |
20 | g.10673487C>A | CA408244198 | JAG1 | c.44G>T (p.Ser15Ile)
| gnomAD v4 |
20 | g.10673487C= | CA2349895577 | JAG1 | c.44G= (p.Ser15=)
| |
20 | g.10673487C>G | CA408244200 | JAG1 | c.44G>C (p.Ser15Thr)
| |
20 | g.10673487C>T | CA408244202 | JAG1 | c.44G>A (p.Ser15Asn)
| dbSNP |
20 | g.10673488T>A | CA408244204 | JAG1 | c.43A>T (p.Ser15Cys)
| |
20 | g.10673488T>C | CA408244207 | JAG1 | c.43A>G (p.Ser15Gly)
| gnomAD v4 |
20 | g.10673488T>G | CA408244209 | JAG1 | c.43A>C (p.Ser15Arg)
| |
20 | g.10673489del | CA2651919446 | JAG1 | c.43del (p.Ser15AlafsTer?)
| gnomAD v4 |
20 | g.10673489T>A | CA509663342 | JAG1 | c.42A>T (p.Leu14=)
| gnomAD v4 |
20 | g.10673489T>C | CA509663344 | JAG1 | c.42A>G (p.Leu14=)
| ClinVar gnomAD v4 |
20 | g.10673489T>G | CA509663345 | JAG1 | c.42A>C (p.Leu14=)
| |
20 | g.10673489_10673490delinsTA | CA2349895578 | JAG1 | c.41_42delinsTA (p.Leu14=)
| |
20 | g.10673490del | CA913190402 | JAG1 | c.41del (p.Leu14GlnfsTer?)
| ClinVar dbSNP |
20 | g.10673490A>C | CA408244212 | JAG1 | c.41T>G (p.Leu14Arg)
| |
20 | g.10673490A>G | CA408244214 | JAG1 | c.41T>C (p.Leu14Pro)
| gnomAD v4 COSMIC COSMIC |
20 | g.10673490A>T | CA408244216 | JAG1 | c.41T>A (p.Leu14Gln)
| gnomAD v4 |
20 | g.10673491G>A | CA509663348 | JAG1 | c.40C>T (p.Leu14=)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673491G>C | CA408244218 | JAG1 | c.40C>G (p.Leu14Val)
| |
20 | g.10673491G= | CA2349895579 | JAG1 | c.40C= (p.Leu14=)
| |
20 | g.10673491G>T | CA408244220 | JAG1 | c.40C>A (p.Leu14Ile)
| gnomAD v4 |
20 | g.10673495dup | CA2651919448 | JAG1 | c.40dup (p.Leu14ProfsTer?)
| gnomAD v4 |
20 | g.10673495del | CA2651919447 | JAG1 | c.40del (p.Leu14Ter)
| gnomAD v4 |
20 | g.10673492G>A | CA509663353 | JAG1 | c.39C>T (p.Pro13=)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673492G>C | CA509663355 | JAG1 | c.39C>G (p.Pro13=)
| |
20 | g.10673492G>T | CA509663357 | JAG1 | c.39C>A (p.Pro13=)
| gnomAD v4 |
20 | g.10673493G>A | CA408244223 | JAG1 | c.38C>T (p.Pro13Leu)
| dbSNP gnomAD v4 |
20 | g.10673493G>C | CA408244225 | JAG1 | c.38C>G (p.Pro13Arg)
| |
20 | g.10673493G= | CA2349895580 | JAG1 | c.38C= (p.Pro13=)
| |
20 | g.10673493G>T | CA408244228 | JAG1 | c.38C>A (p.Pro13His)
| ClinVar gnomAD v4 |
20 | g.10673494G>A | CA408244231 | JAG1 | c.37C>T (p.Pro13Ser)
| gnomAD v4 |
20 | g.10673494G>C | CA408244233 | JAG1 | c.37C>G (p.Pro13Ala)
| |
20 | g.10673494G>T | CA408244235 | JAG1 | c.37C>A (p.Pro13Thr)
| gnomAD v4 |
20 | g.10673495G>A | CA509663364 | JAG1 | c.36C>T (p.Arg12=)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673495G>C | CA509663366 | JAG1 | c.36C>G (p.Arg12=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673495G= | CA2349895581 | JAG1 | c.36C= (p.Arg12=)
| |
20 | g.10673495G>T | CA10604710 | JAG1 | c.36C>A (p.Arg12=)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673495_10673501delinsTCCCGAGT | CA2695229368 | JAG1 | c.30_36delinsACTCGGGA (p.Gly11LeufsTer?)
| |
20 | g.10673496C>A | CA311357565 | JAG1 | c.35G>T (p.Arg12Leu)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673496C= | CA2349895582 | JAG1 | c.35G= (p.Arg12=)
| |
20 | g.10673496C>G | CA408244242 | JAG1 | c.35G>C (p.Arg12Pro)
| gnomAD v4 |
20 | g.10673496C>T | CA408244243 | JAG1 | c.35G>A (p.Arg12His)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673496_10673497insACA | CA2815265203 | JAG1 | c.34_35insTGT (p.Arg12delinsLeuCys)
| |
20 | g.10673497G>A | CA408244247 | JAG1 | c.34C>T (p.Arg12Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673497G>C | CA408244249 | JAG1 | c.34C>G (p.Arg12Gly)
| |
20 | g.10673497G= | CA2349895583 | JAG1 | c.34C= (p.Arg12=)
| |
20 | g.10673497G>T | CA408244250 | JAG1 | c.34C>A (p.Arg12Ser)
| gnomAD v4 |
20 | g.10673498C>A | CA509663374 | JAG1 | c.33G>T (p.Gly11=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673498C= | CA2349895584 | JAG1 | c.33G= (p.Gly11=)
| |
20 | g.10673498C>G | CA509663376 | JAG1 | c.33G>C (p.Gly11=)
| gnomAD v4 |
20 | g.10673498C>T | CA509663377 | JAG1 | c.33G>A (p.Gly11=)
| gnomAD v4 |
20 | g.10673500del | CA2651919449 | JAG1 | c.33del (p.Arg12AlafsTer3)
| gnomAD v4 |
20 | g.10673499C>A | CA408244254 | JAG1 | c.32G>T (p.Gly11Val)
| gnomAD v4 |
20 | g.10673499C>G | CA408244256 | JAG1 | c.32G>C (p.Gly11Ala)
| |
20 | g.10673499C>T | CA408244252 | JAG1 | c.32G>A (p.Gly11Glu)
| gnomAD v4 |
20 | g.10673500C>A | CA408244261 | JAG1 | c.31G>T (p.Gly11Trp)
| gnomAD v4 |
20 | g.10673500C= | CA2349895585 | JAG1 | c.31G= (p.Gly11=)
| |
20 | g.10673500C>G | CA9765233 | JAG1 | c.31G>C (p.Gly11Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.10673500C>T | CA408244263 | JAG1 | c.31G>A (p.Gly11Arg)
| gnomAD v4 |
20 | g.10673500_10673501delinsCG | CA2349895586 | JAG1 | c.30_31delinsCG (p.Ser10=)
| |
20 | g.10673501G>A | CA509663385 | JAG1 | c.30C>T (p.Ser10=)
| gnomAD v4 |
20 | g.10673501G>C | CA509663389 | JAG1 | c.30C>G (p.Ser10=)
| dbSNP gnomAD v4 |
20 | g.10673501G>T | CA509663387 | JAG1 | c.30C>A (p.Ser10=)
| gnomAD v4 |
20 | g.10673502del | CA913190403 | JAG1 | c.30del (p.Arg12AlafsTer3)
| ClinVar dbSNP |
20 | g.10673503_10673522del | CA1015388089 | JAG1 | c.11_30del (p.Pro4ArgfsTer?)
| gnomAD v3 gnomAD v4 |
20 | g.10673502G>A | CA408244266 | JAG1 | c.29C>T (p.Ser10Phe)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673502G>C | CA408244271 | JAG1 | c.29C>G (p.Ser10Cys)
| |
20 | g.10673502G= | CA2349895587 | JAG1 | c.29C= (p.Ser10=)
| |
20 | g.10673502G>T | CA408244268 | JAG1 | c.29C>A (p.Ser10Tyr)
| gnomAD v4 |
20 | g.10673503A>C | CA408244273 | JAG1 | c.28T>G (p.Ser10Ala)
| |
20 | g.10673503A>G | CA408244275 | JAG1 | c.28T>C (p.Ser10Pro)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673503A>T | CA408244277 | JAG1 | c.28T>A (p.Ser10Thr)
| |
20 | g.10673504C>A | CA509663397 | JAG1 | c.27G>T (p.Arg9=)
| gnomAD v4 |
20 | g.10673504C= | CA2349895588 | JAG1 | c.27G= (p.Arg9=)
| |
20 | g.10673504C>G | CA509663399 | JAG1 | c.27G>C (p.Arg9=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673504C>T | CA9765234 | JAG1 | c.27G>A (p.Arg9=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673505C>A | CA408244281 | JAG1 | c.26G>T (p.Arg9Leu)
| dbSNP gnomAD v4 |
20 | g.10673505C= | CA2349895589 | JAG1 | c.26G= (p.Arg9=)
| |
20 | g.10673505C>G | CA408244283 | JAG1 | c.26G>C (p.Arg9Pro)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673505C>T | CA408244284 | JAG1 | c.26G>A (p.Arg9Gln)
| dbSNP gnomAD v4 |
20 | g.10673506G>A | CA408244287 | JAG1 | c.25C>T (p.Arg9Trp)
| gnomAD v4 |
20 | g.10673506G>C | CA408244289 | JAG1 | c.25C>G (p.Arg9Gly)
| |
20 | g.10673506G>T | CA509663407 | JAG1 | c.25C>A (p.Arg9=)
| |
20 | g.10673506_10673536delinsGGCCGCGCGTCCGTGGGGAACGCATCGCTGC | CA2349895590 | JAG1 | c.-6_25delinsGCAGCGATGCGTTCCCCACGGACGCGCGGCC
| |
20 | g.10673507G>A | CA509663414 | JAG1 | c.24C>T (p.Gly8=)
| gnomAD v4 |
20 | g.10673507G>C | CA509663409 | JAG1 | c.24C>G (p.Gly8=)
| gnomAD v4 |
20 | g.10673507G>T | CA509663412 | JAG1 | c.24C>A (p.Gly8=)
| gnomAD v4 |
20 | g.10673515_10673544dup | CA2651919450 | JAG1 | c.-6_24dup (p.Gly8_Arg9insAlaAlaMetArgSerProArgThrArgGly)
| gnomAD v4 |
20 | g.10673515_10673544del | CA322383 | JAG1 | c.-6_24del
| ClinVar dbSNP |
20 | g.10673508C>A | CA408244294 | JAG1 | c.23G>T (p.Gly8Val)
| gnomAD v4 |
20 | g.10673508C= | CA2349895591 | JAG1 | c.23G= (p.Gly8=)
| |
20 | g.10673508C>G | CA408244295 | JAG1 | c.23G>C (p.Gly8Ala)
| gnomAD v4 |
20 | g.10673508C>T | CA311357573 | JAG1 | c.23G>A (p.Gly8Asp)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673509C>A | CA408244299 | JAG1 | c.22G>T (p.Gly8Cys)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.10673509C= | CA2349895592 | JAG1 | c.22G= (p.Gly8=)
| |
20 | g.10673509C>G | CA408244304 | JAG1 | c.22G>C (p.Gly8Arg)
| |
20 | g.10673509C>T | CA408244302 | JAG1 | c.22G>A (p.Gly8Ser)
| gnomAD v4 |
20 | g.10673510G>A | CA509663421 | JAG1 | c.21C>T (p.Arg7=)
| dbSNP gnomAD v4 |
20 | g.10673510G>C | CA509663423 | JAG1 | c.21C>G (p.Arg7=)
| |
20 | g.10673510G= | CA2349895593 | JAG1 | c.21C= (p.Arg7=)
| |
20 | g.10673510G>T | CA509663424 | JAG1 | c.21C>A (p.Arg7=)
| gnomAD v4 |
20 | g.10673511C>A | CA408244306 | JAG1 | c.20G>T (p.Arg7Leu)
| gnomAD v4 |
20 | g.10673511C>G | CA408244307 | JAG1 | c.20G>C (p.Arg7Pro)
| |
20 | g.10673511C>T | CA408244309 | JAG1 | c.20G>A (p.Arg7His)
| ClinVar gnomAD v4 |
20 | g.10673512G>A | CA311357576 | JAG1 | c.19C>T (p.Arg7Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673512G>C | CA408244312 | JAG1 | c.19C>G (p.Arg7Gly)
| |
20 | g.10673512G= | CA2349895594 | JAG1 | c.19C= (p.Arg7=)
| |
20 | g.10673512G>T | CA408244314 | JAG1 | c.19C>A (p.Arg7Ser)
| gnomAD v4 |
20 | g.10673513C>A | CA509663432 | JAG1 | c.18G>T (p.Thr6=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673513C= | CA2349895595 | JAG1 | c.18G= (p.Thr6=)
| |
20 | g.10673513C>G | CA509663434 | JAG1 | c.18G>C (p.Thr6=)
| ClinVar |
20 | g.10673513C>T | CA311357579 | JAG1 | c.18G>A (p.Thr6=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673514G>A | CA408244318 | JAG1 | c.17C>T (p.Thr6Met)
| gnomAD v4 |
20 | g.10673514G>C | CA408244320 | JAG1 | c.17C>G (p.Thr6Arg)
| |
20 | g.10673514G= | CA2349895596 | JAG1 | c.17C= (p.Thr6=)
| |
20 | g.10673514G>T | CA408244321 | JAG1 | c.17C>A (p.Thr6Lys)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673515T>A | CA408244328 | JAG1 | c.16A>T (p.Thr6Ser)
| gnomAD v4 |
20 | g.10673515T>C | CA408244325 | JAG1 | c.16A>G (p.Thr6Ala)
| gnomAD v4 |
20 | g.10673515T>G | CA408244323 | JAG1 | c.16A>C (p.Thr6Pro)
| |
20 | g.10673516C>A | CA509663445 | JAG1 | c.15G>T (p.Arg5=)
| gnomAD v4 |
20 | g.10673516C>G | CA509663442 | JAG1 | c.15G>C (p.Arg5=)
| |
20 | g.10673516C>T | CA509663443 | JAG1 | c.15G>A (p.Arg5=)
| |
20 | g.10673517C>A | CA408244331 | JAG1 | c.14G>T (p.Arg5Leu)
| gnomAD v4 |
20 | g.10673517C= | CA2349895597 | JAG1 | c.14G= (p.Arg5=)
| |
20 | g.10673517C>G | CA408244333 | JAG1 | c.14G>C (p.Arg5Pro)
| gnomAD v4 |
20 | g.10673517C>T | CA311357581 | JAG1 | c.14G>A (p.Arg5Gln)
| dbSNP gnomAD v4 |
20 | g.10673518del | CA2815265204 | JAG1 | c.13del (p.Arg5GlyfsTer10)
| |
20 | g.10673518G>A | CA408244337 | JAG1 | c.13C>T (p.Arg5Trp)
| gnomAD v4 |
20 | g.10673518G>C | CA408244339 | JAG1 | c.13C>G (p.Arg5Gly)
| |
20 | g.10673518G>T | CA509663451 | JAG1 | c.13C>A (p.Arg5=)
| dbSNP gnomAD v4 |
20 | g.10673519T>A | CA509663454 | JAG1 | c.12A>T (p.Pro4=)
| gnomAD v4 |
20 | g.10673519T>C | CA509663455 | JAG1 | c.12A>G (p.Pro4=)
| gnomAD v4 |
20 | g.10673519T>G | CA509663457 | JAG1 | c.12A>C (p.Pro4=)
| |
20 | g.10673519T= | CA2349895598 | JAG1 | c.12A= (p.Pro4=)
| |
20 | g.10673520G>A | CA408244347 | JAG1 | c.11C>T (p.Pro4Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673520G>C | CA408244345 | JAG1 | c.11C>G (p.Pro4Arg)
| |
20 | g.10673520G= | CA2349895600 | JAG1 | c.11C= (p.Pro4=)
| |
20 | g.10673520G>T | CA408244343 | JAG1 | c.11C>A (p.Pro4Gln)
| gnomAD v4 |
20 | g.10673523dup | CA2349895599 | JAG1 | c.11dup (p.Arg5ThrfsTer?)
| dbSNP |
20 | g.10673523del | CA2651919451 | JAG1 | c.11del (p.Pro4HisfsTer11)
| ClinVar gnomAD v4 |
20 | g.10673521G>A | CA408244348 | JAG1 | c.10C>T (p.Pro4Ser)
| ClinVar gnomAD v4 |
20 | g.10673521G>C | CA408244349 | JAG1 | c.10C>G (p.Pro4Ala)
| gnomAD v4 |
20 | g.10673521G>T | CA408244350 | JAG1 | c.10C>A (p.Pro4Thr)
| gnomAD v4 |
20 | g.10673522G>A | CA509663466 | JAG1 | c.9C>T (p.Ser3=)
| gnomAD v4 |
20 | g.10673522G>C | CA509663464 | JAG1 | c.9C>G (p.Ser3=)
| |
20 | g.10673522G>T | CA509663468 | JAG1 | c.9C>A (p.Ser3=)
| gnomAD v4 |
20 | g.10673524_10673558del | CA2695229369 | JAG1 | c.-26_9del
| |
20 | g.10673523G>A | CA408244351 | JAG1 | c.8C>T (p.Ser3Phe)
| gnomAD v4 |
20 | g.10673523G>C | CA408244352 | JAG1 | c.8C>G (p.Ser3Cys)
| gnomAD v4 |
20 | g.10673523G= | CA2349895601 | JAG1 | c.8C= (p.Ser3=)
| |
20 | g.10673523G>T | CA408244353 | JAG1 | c.8C>A (p.Ser3Tyr)
| gnomAD v3 gnomAD v4 |
20 | g.10673524A>C | CA408244356 | JAG1 | c.7T>G (p.Ser3Ala)
| |
20 | g.10673524A>G | CA408244355 | JAG1 | c.7T>C (p.Ser3Pro)
| gnomAD v4 |
20 | g.10673524A>T | CA408244354 | JAG1 | c.7T>A (p.Ser3Thr)
| |
20 | g.10673525dup | CA324684 | JAG1 | c.7dup (p.Ser3PhefsTer?)
| ClinVar dbSNP |
20 | g.10673525A>C | CA509663476 | JAG1 | c.6T>G (p.Arg2=)
| ClinVar |
20 | g.10673525A>G | CA509663477 | JAG1 | c.6T>C (p.Arg2=)
| gnomAD v4 |
20 | g.10673525A>T | CA509663479 | JAG1 | c.6T>A (p.Arg2=)
| |
20 | g.10673526C>A | CA311357585 | JAG1 | c.5G>T (p.Arg2Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673526C= | CA2349895602 | JAG1 | c.5G= (p.Arg2=)
| |
20 | g.10673526C>G | CA408244357 | JAG1 | c.5G>C (p.Arg2Pro)
| |
20 | g.10673526C>T | CA408244358 | JAG1 | c.5G>A (p.Arg2His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673527G>A | CA408244359 | JAG1 | c.4C>T (p.Arg2Cys)
| ClinVar gnomAD v4 |
20 | g.10673527G>C | CA311357589 | JAG1 | c.4C>G (p.Arg2Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673527G= | CA2349895603 | JAG1 | c.4C= (p.Arg2=)
| |
20 | g.10673527G>T | CA408244360 | JAG1 | c.4C>A (p.Arg2Ser)
| gnomAD v4 |
20 | g.10673527_10673528delinsAA | CA2695229370 | JAG1 | c.3_4delinsTT (p.Met1_Arg2delinsIleCys)
| |
20 | g.10673528C>A | CA408244361 | JAG1 | c.3G>T (p.Met1Ile)
| gnomAD v4 |
20 | g.10673528C= | CA2349895604 | JAG1 | c.3G= (p.Met1=)
| |
20 | g.10673528C>G | CA408244362 | JAG1 | c.3G>C (p.Met1Ile)
| |
20 | g.10673528C>T | CA322254 | JAG1 | c.3G>A (p.Met1Ile)
| ClinVar dbSNP |
20 | g.10673529A>C | CA408244365 | JAG1 | c.2T>G (p.Met1Arg)
| |
20 | g.10673529A>G | CA408244364 | JAG1 | c.2T>C (p.Met1Thr)
| gnomAD v4 |
20 | g.10673529A>T | CA408244363 | JAG1 | c.2T>A (p.Met1Lys)
| |
20 | g.10673530T>A | CA408244366 | JAG1 | c.1A>T (p.Met1Leu)
| |
20 | g.10673530T>C | CA408244368 | JAG1 | c.1A>G (p.Met1Val)
| |
20 | g.10673530T>G | CA408244367 | JAG1 | c.1A>C (p.Met1Leu)
| |
20 | g.10673531del | CA2651919452 | JAG1 | c.-1del (n.-1del)
| gnomAD v4 |
20 | g.10673531C>A | CA634455496 | JAG1 | c.-1G>T (n.-1G>T)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.10673531C= | CA2349895605 | JAG1 | c.-1G= (n.-1G=)
| |
20 | g.10673531C>T | CA741116571 | JAG1 | c.-1G>A (n.-1G>A)
| dbSNP gnomAD v4 |
20 | g.10673531_10673532insA | CA2815265205 | JAG1 | c.-2_-1insT (n.-2_-1insT)
| |
20 | g.10673532G>A | CA2651919453 | JAG1 | c.-2C>T (n.-2C>T)
| gnomAD v4 |
20 | g.10673532G>T | CA2651919454 | JAG1 | c.-2C>A (n.-2C>A)
| gnomAD v4 |
20 | g.10673533C>A | CA2651919455 | JAG1 | c.-3G>T (n.-3G>T)
| gnomAD v4 |
20 | g.10673533C>T | CA2651919456 | JAG1 | c.-3G>A (n.-3G>A)
| gnomAD v4 |
20 | g.10673534T>C | CA2651919457 | JAG1 | c.-4A>G (n.-4A>G)
| gnomAD v4 |
20 | g.10673534T>G | CA2651919458 | JAG1 | c.-4A>C (n.-4A>C)
| gnomAD v4 |
20 | g.10673534_10673541delinsTGCGCCGC | CA2349895606 | JAG1 | c.-11_-4delinsGCGGCGCA (n.-11_-4delinsGCGGCGCA)
| |
20 | g.10673535G>T | CA2651919459 | JAG1 | c.-5C>A (n.-5C>A)
| gnomAD v4 |
20 | g.10673543_10673549dup | CA741116574 | JAG1 | c.-11_-5dup (n.-11_-5dup)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673543_10673549del | CA311357594 | JAG1 | c.-11_-5del (n.-11_-5del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673536C>A | CA1139665909 | JAG1 | c.-6G>T (n.-6G>T)
| ClinVar dbSNP gnomAD v4 |
20 | g.10673536C= | CA2349895607 | JAG1 | c.-6G= (n.-6G=)
| |
20 | g.10673536C>T | CA2577338648 | JAG1 | c.-6G>A (n.-6G>A)
| gnomAD v4 |
20 | g.10673542_10673566del | CA2651919460 | JAG1 | c.-30_-6del (n.-30_-6del)
| gnomAD v4 |
20 | g.10673537G>A | CA2651919461 | JAG1 | c.-7C>T (n.-7C>T)
| gnomAD v4 |
20 | g.10673537G>T | CA2651919462 | JAG1 | c.-7C>A (n.-7C>A)
| gnomAD v4 |
20 | g.10673538C>G | CA2651919464 | JAG1 | c.-8G>C (n.-8G>C)
| gnomAD v4 |
20 | g.10673538C>T | CA2651919465 | JAG1 | c.-8G>A (n.-8G>A)
| gnomAD v4 |
20 | g.10673539del | CA2651919463 | JAG1 | c.-8del (n.-8del)
| gnomAD v4 |
20 | g.10673539C>A | CA2349895609 | JAG1 | c.-9G>T (n.-9G>T)
| dbSNP gnomAD v4 |
20 | g.10673539C= | CA2349895608 | JAG1 | c.-9G= (n.-9G=)
| |
20 | g.10673539C>T | CA2651919466 | JAG1 | c.-9G>A (n.-9G>A)
| gnomAD v4 |
20 | g.10673540G>A | CA2651919467 | JAG1 | c.-10C>T (n.-10C>T)
| gnomAD v4 |
20 | g.10673540G>C | CA2651919468 | JAG1 | c.-10C>G (n.-10C>G)
| gnomAD v4 |
20 | g.10673540G>T | CA2651919469 | JAG1 | c.-10C>A (n.-10C>A)
| gnomAD v4 |
20 | g.10673541C>A | CA2651919470 | JAG1 | c.-11G>T (n.-11G>T)
| gnomAD v4 |
20 | g.10673541C>T | CA2651919471 | JAG1 | c.-11G>A (n.-11G>A)
| gnomAD v4 |
20 | g.10673542G>A | CA1015388122 | JAG1 | c.-12C>T (n.-12C>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673542G>C | CA311357598 | JAG1 | c.-12C>G (n.-12C>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673542G= | CA2349895610 | JAG1 | c.-12C= (n.-12C=)
| |
20 | g.10673542G>T | CA2651919473 | JAG1 | c.-12C>A (n.-12C>A)
| gnomAD v4 |
20 | g.10673542dup | CA2651919472 | JAG1 | c.-12dup (n.-12dup)
| gnomAD v4 |
20 | g.10673543C>A | CA2651919474 | JAG1 | c.-13G>T (n.-13G>T)
| gnomAD v4 |
20 | g.10673543C>T | CA2651919475 | JAG1 | c.-13G>A (n.-13G>A)
| gnomAD v4 |
20 | g.10673544G>A | CA2651919476 | JAG1 | c.-14C>T (n.-14C>T)
| gnomAD v4 |
20 | g.10673544G>T | CA2651919477 | JAG1 | c.-14C>A (n.-14C>A)
| gnomAD v4 |
20 | g.10673545C>T | CA2651919478 | JAG1 | c.-15G>A (n.-15G>A)
| gnomAD v4 |
20 | g.10673546C>A | CA2651919479 | JAG1 | c.-16G>T (n.-16G>T)
| gnomAD v4 |
20 | g.10673546C>T | CA2577338649 | JAG1 | c.-16G>A (n.-16G>A)
| |
20 | g.10673547G>A | CA2349895612 | JAG1 | c.-17C>T (n.-17C>T)
| dbSNP gnomAD v4 |
20 | g.10673547G>C | CA2651919480 | JAG1 | c.-17C>G (n.-17C>G)
| gnomAD v4 |
20 | g.10673547G= | CA2349895611 | JAG1 | c.-17C= (n.-17C=)
| |
20 | g.10673547G>T | CA2577338650 | JAG1 | c.-17C>A (n.-17C>A)
| gnomAD v4 |
20 | g.10673548C>T | CA2577338651 | JAG1 | c.-18G>A (n.-18G>A)
| gnomAD v4 |
20 | g.10673549G>A | CA2651919481 | JAG1 | c.-19C>T (n.-19C>T)
| gnomAD v4 |
20 | g.10673549G>T | CA2577338653 | JAG1 | c.-19C>A (n.-19C>A)
| gnomAD v4 |
20 | g.10673551del | CA2577338652 | JAG1 | c.-19del (n.-19del)
| |
20 | g.10673549_10673550insAT | CA2651919482 | JAG1 | c.-20_-19insAT (n.-20_-19insAT)
| gnomAD v4 |
20 | g.10673550G= | CA2349895613 | JAG1 | c.-20C= (n.-20C=)
| |
20 | g.10673550G>T | CA311357600 | JAG1 | c.-20C>A (n.-20C>A)
| dbSNP |
20 | g.10673551G>A | CA2651919484 | JAG1 | c.-21C>T (n.-21C>T)
| gnomAD v4 |
20 | g.10673551G>T | CA2651919483 | JAG1 | c.-21C>A (n.-21C>A)
| gnomAD v4 |
20 | g.10673552C>A | CA2651919485 | JAG1 | c.-22G>T (n.-22G>T)
| gnomAD v4 |
20 | g.10673552C= | CA2349895614 | JAG1 | c.-22G= (n.-22G=)
| |
20 | g.10673552C>G | CA2349895615 | JAG1 | c.-22G>C (n.-22G>C)
| dbSNP |
20 | g.10673552C>T | CA2577338654 | JAG1 | c.-22G>A (n.-22G>A)
| gnomAD v4 |
20 | g.10673554C>A | CA2651919486 | JAG1 | c.-24G>T (n.-24G>T)
| gnomAD v4 |
20 | g.10673554C= | CA2349895616 | JAG1 | c.-24G= (n.-24G=)
| |
20 | g.10673554C>T | CA741116581 | JAG1 | c.-24G>A (n.-24G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673555T>A | CA2651919487 | JAG1 | c.-25A>T (n.-25A>T)
| gnomAD v4 |
20 | g.10673555T>C | CA2561916346 | JAG1 | c.-25A>G (n.-25A>G)
| |
20 | g.10673556C>A | CA2577338655 | JAG1 | c.-26G>T (n.-26G>T)
| gnomAD v4 |
20 | g.10673556C= | CA2349895617 | JAG1 | c.-26G= (n.-26G=)
| |
20 | g.10673556C>T | CA634455497 | JAG1 | c.-26G>A (n.-26G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673557G>A | CA2651919488 | JAG1 | c.-27C>T (n.-27C>T)
| gnomAD v4 |
20 | g.10673557G>C | CA10652368 | JAG1 | c.-27C>G (n.-27C>G)
| ClinVar dbSNP |
20 | g.10673557G= | CA2349895618 | JAG1 | c.-27C= (n.-27C=)
| |
20 | g.10673557G>T | CA2651919489 | JAG1 | c.-27C>A (n.-27C>A)
| gnomAD v4 |
20 | g.10673558G>A | CA2577338656 | JAG1 | c.-28C>T (n.-28C>T)
| |
20 | g.10673558G>C | CA2577338657 | JAG1 | c.-28C>G (n.-28C>G)
| |
20 | g.10673558G>T | CA2651919490 | JAG1 | c.-28C>A (n.-28C>A)
| gnomAD v4 |
20 | g.10673559G>A | CA2651919491 | JAG1 | c.-29C>T (n.-29C>T)
| gnomAD v4 |
20 | g.10673559G>C | CA2349895620 | JAG1 | c.-29C>G (n.-29C>G)
| dbSNP |
20 | g.10673559G= | CA2349895619 | JAG1 | c.-29C= (n.-29C=)
| |
20 | g.10673560A= | CA2349895621 | JAG1 | c.-30T= (n.-30T=)
| |
20 | g.10673560A>G | CA2651919492 | JAG1 | c.-30T>C (n.-30T>C)
| gnomAD v4 |
20 | g.10673560A>T | CA2349895622 | JAG1 | c.-30T>A (n.-30T>A)
| dbSNP |
20 | g.10673561C>A | CA2651919495 | JAG1 | c.-31G>T (n.-31G>T)
| gnomAD v4 |
20 | g.10673561C>G | CA2651919493 | JAG1 | c.-31G>C (n.-31G>C)
| gnomAD v4 |
20 | g.10673561C>T | CA2651919494 | JAG1 | c.-31G>A (n.-31G>A)
| gnomAD v4 |
20 | g.10673561_10673569dup | CA2349895623 | JAG1 | c.-39_-31dup (n.-39_-31dup)
| dbSNP |
20 | g.10673567_10673569del | CA2651919496 | JAG1 | c.-33_-31del (n.-33_-31del)
| gnomAD v4 |
20 | g.10673562G>A | CA2651919499 | JAG1 | c.-32C>T (n.-32C>T)
| gnomAD v4 |
20 | g.10673562G>T | CA2651919500 | JAG1 | c.-32C>A (n.-32C>A)
| gnomAD v4 |
20 | g.10673564_10673587del | CA2651919497 | JAG1 | c.-55_-32del (n.-55_-32del)
| gnomAD v4 |
20 | g.10673569_10673595del | CA2651919498 | JAG1 | c.-58_-32del (n.-58_-32del)
| gnomAD v4 |
20 | g.10673563C>A | CA2651919501 | JAG1 | c.-33G>T (n.-33G>T)
| gnomAD v4 |
20 | g.10673563C>T | CA2651919502 | JAG1 | c.-33G>A (n.-33G>A)
| gnomAD v4 |
20 | g.10673564C= | CA2349895624 | JAG1 | c.-34G= (n.-34G=)
| |
20 | g.10673564C>T | CA2349895625 | JAG1 | c.-34G>A (n.-34G>A)
| dbSNP gnomAD v4 |
20 | g.10673564_10673565insAGT | CA2815265206 | JAG1 | c.-35_-34insACT (n.-35_-34insACT)
| |
20 | g.10673565del | CA2577338658 | JAG1 | c.-35del (n.-35del)
| |
20 | g.10673565G>A | CA634455498 | JAG1 | c.-35C>T (n.-35C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10673565G= | CA2349895626 | JAG1 | c.-35C= (n.-35C=)
| |
20 | g.10673565G>T | CA2651919503 | JAG1 | c.-35C>A (n.-35C>A)
| gnomAD v4 |
20 | g.10673566C>A | CA2651919504 | JAG1 | c.-36G>T (n.-36G>T)
| gnomAD v4 |
20 | g.10673566_10673567insA | CA2815265207 | JAG1 | c.-37_-36insT (n.-37_-36insT)
| |
20 | g.10673567C>A | CA2577338659 | JAG1 | c.-37G>T (n.-37G>T)
| gnomAD v4 |
20 | g.10673567C= | CA2349895627 | JAG1 | c.-37G= (n.-37G=)
| |
20 | g.10673567C>T | CA1015388129 | JAG1 | c.-37G>A (n.-37G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.10673568G>A | CA2651919505 | JAG1 | c.-38C>T (n.-38C>T)
| gnomAD v4 |
20 | g.10673568G>T | CA2577338660 | JAG1 | c.-38C>A (n.-38C>A)
| gnomAD v4 |
20 | g.10673572_10673574del | CA2651919506 | JAG1 | c.-40_-38del (n.-40_-38del)
| gnomAD v4 |
20 | g.10673569C>A | CA2815265208 | JAG1 | c.-39G>T (n.-39G>T)
| |
20 | g.10673569C>T | CA2651919507 | JAG1 | c.-39G>A (n.-39G>A)
| gnomAD v4 |