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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129058767_129062425del | CA2573052078 | ClinVar | ||
| 3 | g.129060779_129062406del | CA2573052079 | GP9 | c.-210_*133del c.-84_*133del | ClinVar |
| 3 | g.129061712G>A | CA2667574760 | GP9 | c.-12-16G>A (n.-12-16G>A) | gnomAD v4 |
| 3 | g.129061712G>T | CA2667574761 | GP9 | c.-12-16G>T (n.-12-16G>T) | gnomAD v4 |
| 3 | g.129061713C>A | CA898688558 | GP9 | c.-12-15C>A (n.-12-15C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129061713C= | CA1401004619 | GP9 | c.-12-15C= (n.-12-15C=) | |
| 3 | g.129061714C>A | CA2667574762 | GP9 | c.-12-14C>A (n.-12-14C>A) | gnomAD v4 |
| 3 | g.129061714C>T | CA2667574763 | GP9 | c.-12-14C>T (n.-12-14C>T) | gnomAD v4 |
| 3 | g.129061715C= | CA1401004620 | GP9 | c.-12-13C= (n.-12-13C=) | |
| 3 | g.129061715C>G | CA1401004621 | GP9 | c.-12-13C>G (n.-12-13C>G) | dbSNP |
| 3 | g.129061716C>A | CA2758355597 | GP9 | c.-12-12C>A (n.-12-12C>A) | |
| 3 | g.129061716C= | CA1401004622 | GP9 | c.-12-12C= (n.-12-12C=) | |
| 3 | g.129061716C>T | CA546191229 | GP9 | c.-12-12C>T (n.-12-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061722_129061723del | CA2577892326 | GP9 | c.-12-6_-12-5del (n.-12-6_-12-5del) | gnomAD v4 |
| 3 | g.129061717del | CA2577892327 | GP9 | c.-12-11del (n.-12-11del) | |
| 3 | g.129061717T>A | CA546191231 | GP9 | c.-12-11T>A (n.-12-11T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061717T>C | CA2667574764 | GP9 | c.-12-11T>C (n.-12-11T>C) | gnomAD v4 |
| 3 | g.129061717T>G | CA546191232 | GP9 | c.-12-11T>G (n.-12-11T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061717T= | CA1401004623 | GP9 | c.-12-11T= (n.-12-11T=) | |
| 3 | g.129061718C>A | CA2667574765 | GP9 | c.-12-10C>A (n.-12-10C>A) | gnomAD v4 |
| 3 | g.129061719T>C | CA2667574766 | GP9 | c.-12-9T>C (n.-12-9T>C) | gnomAD v4 |
| 3 | g.129061720C>A | CA2667574767 | GP9 | c.-12-8C>A (n.-12-8C>A) | gnomAD v4 |
| 3 | g.129061722C>A | CA2667574768 | GP9 | c.-12-6C>A (n.-12-6C>A) | gnomAD v4 |
| 3 | g.129061724G>A | CA2667574769 | GP9 | c.-12-4G>A (n.-12-4G>A) | gnomAD v4 |
| 3 | g.129061724G>C | CA1401004625 | GP9 | c.-12-4G>C (n.-12-4G>C) | dbSNP gnomAD v4 |
| 3 | g.129061724G= | CA1401004624 | GP9 | c.-12-4G= (n.-12-4G=) | |
| 3 | g.129061724G>T | CA546191233 | GP9 | c.-12-4G>T (n.-12-4G>T) | dbSNP gnomAD v2 |
| 3 | g.129061725C>A | CA2667574770 | GP9 | c.-12-3C>A (n.-12-3C>A) | gnomAD v4 |
| 3 | g.129061725C= | CA1401004626 | GP9 | c.-12-3C= (n.-12-3C=) | |
| 3 | g.129061725C>G | CA2602616 | GP9 | c.-12-3C>G (n.-12-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129061725C>T | CA2667574771 | GP9 | c.-12-3C>T (n.-12-3C>T) | gnomAD v4 |
| 3 | g.129061726A>G | CA2667574772 | GP9 | c.-12-2A>G (n.-12-2A>G) | gnomAD v4 |
| 3 | g.129061727G>A | CA2577892328 | GP9 | c.-12-1G>A (n.-12-1G>A) | gnomAD v4 |
| 3 | g.129061727G>T | CA2667574773 | GP9 | c.-12-1G>T (n.-12-1G>T) | gnomAD v4 |
| 3 | g.129061728C>A | CA2667574774 | GP9 | c.-12C>A (n.-12C>A) | gnomAD v4 |
| 3 | g.129061728C= | CA1401004627 | GP9 | c.-12C= (n.-12C=) | |
| 3 | g.129061728C>T | CA546191236 | GP9 | c.-12C>T (n.-12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061729C= | CA1401004628 | GP9 | c.-11C= (n.-11C=) | |
| 3 | g.129061729C>T | CA546191237 | GP9 | c.-11C>T (n.-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061736_129061746del | CA658760370 | GP9 | c.-4_7del | |
| 3 | g.129061732C>A | CA2667574776 | GP9 | c.-8C>A (n.-8C>A) | gnomAD v4 |
| 3 | g.129061732C>T | CA2667574775 | GP9 | c.-8C>T (n.-8C>T) | gnomAD v4 |
| 3 | g.129061733C>A | CA2667574777 | GP9 | c.-7C>A (n.-7C>A) | gnomAD v4 |
| 3 | g.129061734T>C | CA2667574778 | GP9 | c.-6T>C (n.-6T>C) | gnomAD v4 |
| 3 | g.129061735G>A | CA2602617 | GP9 | c.-5G>A (n.-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061735G= | CA1401004629 | GP9 | c.-5G= (n.-5G=) | |
| 3 | g.129061735G>T | CA2667574779 | GP9 | c.-5G>T (n.-5G>T) | gnomAD v4 |
| 3 | g.129061736T>C | CA2667574780 | GP9 | c.-4T>C (n.-4T>C) | gnomAD v4 |
| 3 | g.129061737C>A | CA2667574781 | GP9 | c.-3C>A (n.-3C>A) | gnomAD v4 |
| 3 | g.129061738C>A | CA2667574782 | GP9 | c.-2C>A (n.-2C>A) | gnomAD v4 |
| 3 | g.129061738C= | CA1401004630 | GP9 | c.-2C= (n.-2C=) | |
| 3 | g.129061738C>G | CA2602618 | GP9 | c.-2C>G (n.-2C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129061738_129061739insT | CA648619112 | GP9 | c.-2_-1insT (n.-2_-1insT) | COSMIC |
| 3 | g.129061739C>A | CA2667574783 | GP9 | c.-1C>A (n.-1C>A) | gnomAD v4 |
| 3 | g.129061739C= | CA1401004631 | GP9 | c.-1C= (n.-1C=) | |
| 3 | g.129061739C>G | CA1401004632 | GP9 | c.-1C>G (n.-1C>G) | dbSNP gnomAD v4 |
| 3 | g.129061739C>T | CA2602619 | GP9 | c.-1C>T (n.-1C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061740A>C | CA354446186 | GP9 | c.1A>C (p.Met1Leu) | |
| 3 | g.129061740A>G | CA354446188 | GP9 | c.1A>G (p.Met1Val) | |
| 3 | g.129061740A>T | CA354446190 | GP9 | c.1A>T (p.Met1Leu) | |
| 3 | g.129061741T>A | CA354446194 | GP9 | c.2T>A (p.Met1Lys) | |
| 3 | g.129061741T>C | CA354446195 | GP9 | c.2T>C (p.Met1Thr) | ClinVar |
| 3 | g.129061741T>G | CA354446197 | GP9 | c.2T>G (p.Met1Arg) | |
| 3 | g.129061747_129061750dup | CA2580616532 | GP9 | c.8_11dup (p.Trp4CysfsTer?) | ClinVar |
| 3 | g.129061747_129061750del | CA2577892329 | GP9 | c.8_11del (p.Ala3GlyfsTer?) | |
| 3 | g.129061742G>A | CA354446206 | GP9 | c.3G>A (p.Met1Ile) | |
| 3 | g.129061742G>C | CA354446208 | GP9 | c.3G>C (p.Met1Ile) | |
| 3 | g.129061742G>T | CA354446209 | GP9 | c.3G>T (p.Met1Ile) | |
| 3 | g.129061743C>A | CA354446210 | GP9 | c.4C>A (p.Pro2Thr) | gnomAD v4 |
| 3 | g.129061743C>G | CA354446211 | GP9 | c.4C>G (p.Pro2Ala) | |
| 3 | g.129061743C>T | CA354446212 | GP9 | c.4C>T (p.Pro2Ser) | gnomAD v4 |
| 3 | g.129061744C>A | CA354446216 | GP9 | c.5C>A (p.Pro2His) | |
| 3 | g.129061744C= | CA1401004633 | GP9 | c.5C= (p.Pro2=) | |
| 3 | g.129061744C>G | CA354446219 | GP9 | c.5C>G (p.Pro2Arg) | |
| 3 | g.129061744C>T | CA2602620 | GP9 | c.5C>T (p.Pro2Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129061745T>A | CA435591442 | GP9 | c.6T>A (p.Pro2=) | |
| 3 | g.129061745T>C | CA435591445 | GP9 | c.6T>C (p.Pro2=) | dbSNP |
| 3 | g.129061745T>G | CA435591443 | GP9 | c.6T>G (p.Pro2=) | |
| 3 | g.129061746G>A | CA354446222 | GP9 | c.7G>A (p.Ala3Thr) | |
| 3 | g.129061746G>C | CA354446226 | GP9 | c.7G>C (p.Ala3Pro) | |
| 3 | g.129061746G>T | CA354446229 | GP9 | c.7G>T (p.Ala3Ser) | gnomAD v4 |
| 3 | g.129061747C>A | CA354446233 | GP9 | c.8C>A (p.Ala3Asp) | gnomAD v4 |
| 3 | g.129061747C>G | CA354446235 | GP9 | c.8C>G (p.Ala3Gly) | |
| 3 | g.129061747C>T | CA354446237 | GP9 | c.8C>T (p.Ala3Val) | |
| 3 | g.129061748C>A | CA2602621 | GP9 | c.9C>A (p.Ala3=) | dbSNP ExAC gnomAD v2 |
| 3 | g.129061748C= | CA1401004634 | GP9 | c.9C= (p.Ala3=) | |
| 3 | g.129061748C>G | CA435591451 | GP9 | c.9C>G (p.Ala3=) | |
| 3 | g.129061748C>T | CA435591453 | GP9 | c.9C>T (p.Ala3=) | |
| 3 | g.129061749T>A | CA354446244 | GP9 | c.10T>A (p.Trp4Arg) | |
| 3 | g.129061749T>C | CA354446247 | GP9 | c.10T>C (p.Trp4Arg) | gnomAD v4 |
| 3 | g.129061749T>G | CA354446249 | GP9 | c.10T>G (p.Trp4Gly) | |
| 3 | g.129061750G>A | CA354446253 | GP9 | c.11G>A (p.Trp4Ter) | |
| 3 | g.129061750G>C | CA354446255 | GP9 | c.11G>C (p.Trp4Ser) | |
| 3 | g.129061750G>T | CA354446258 | GP9 | c.11G>T (p.Trp4Leu) | |
| 3 | g.129061753del | CA2667574784 | GP9 | c.14del (p.Gly5GlufsTer?) | gnomAD v4 |
| 3 | g.129061751G>A | CA354446262 | GP9 | c.12G>A (p.Trp4Ter) | |
| 3 | g.129061751G>C | CA354446272 | GP9 | c.12G>C (p.Trp4Cys) | |
| 3 | g.129061751G>T | CA354446268 | GP9 | c.12G>T (p.Trp4Cys) | |
| 3 | g.129061752G>A | CA354446276 | GP9 | c.13G>A (p.Gly5Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061752G>C | CA354446285 | GP9 | c.13G>C (p.Gly5Arg) | dbSNP |
| 3 | g.129061752G= | CA1401004635 | GP9 | c.13G= (p.Gly5=) | |
| 3 | g.129061752G>T | CA354446278 | GP9 | c.13G>T (p.Gly5Ter) | |
| 3 | g.129061753G>A | CA354446287 | GP9 | c.14G>A (p.Gly5Glu) | gnomAD v4 |
| 3 | g.129061753G>C | CA354446290 | GP9 | c.14G>C (p.Gly5Ala) | |
| 3 | g.129061753G>T | CA354446291 | GP9 | c.14G>T (p.Gly5Val) | |
| 3 | g.129061754A>C | CA435591476 | GP9 | c.15A>C (p.Gly5=) | |
| 3 | g.129061754A>G | CA435591479 | GP9 | c.15A>G (p.Gly5=) | |
| 3 | g.129061754A>T | CA435591478 | GP9 | c.15A>T (p.Gly5=) | |
| 3 | g.129061755G>A | CA354446296 | GP9 | c.16G>A (p.Ala6Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061755G>C | CA354446299 | GP9 | c.16G>C (p.Ala6Pro) | dbSNP gnomAD v4 |
| 3 | g.129061755G= | CA1401004636 | GP9 | c.16G= (p.Ala6=) | |
| 3 | g.129061755G>T | CA354446305 | GP9 | c.16G>T (p.Ala6Ser) | gnomAD v4 |
| 3 | g.129061756C>A | CA354446309 | GP9 | c.17C>A (p.Ala6Asp) | gnomAD v4 |
| 3 | g.129061756C= | CA1401004637 | GP9 | c.17C= (p.Ala6=) | |
| 3 | g.129061756C>G | CA354446312 | GP9 | c.17C>G (p.Ala6Gly) | |
| 3 | g.129061756C>T | CA2602622 | GP9 | c.17C>T (p.Ala6Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129061757C>A | CA435591488 | GP9 | c.18C>A (p.Ala6=) | |
| 3 | g.129061757C= | CA1401004638 | GP9 | c.18C= (p.Ala6=) | |
| 3 | g.129061757C>G | CA435591489 | GP9 | c.18C>G (p.Ala6=) | |
| 3 | g.129061757C>T | CA2602623 | GP9 | c.18C>T (p.Ala6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061758C>A | CA354446320 | GP9 | c.19C>A (p.Leu7Met) | |
| 3 | g.129061758C>G | CA354446323 | GP9 | c.19C>G (p.Leu7Val) | |
| 3 | g.129061758C>T | CA435591493 | GP9 | c.19C>T (p.Leu7=) | |
| 3 | g.129061759T>A | CA354446333 | GP9 | c.20T>A (p.Leu7Gln) | |
| 3 | g.129061759T>C | CA123183 | GP9 | c.20T>C (p.Leu7Pro) | ClinVar dbSNP |
| 3 | g.129061759T>G | CA354446330 | GP9 | c.20T>G (p.Leu7Arg) | |
| 3 | g.129061759T= | CA1401004639 | GP9 | c.20T= (p.Leu7=) | |
| 3 | g.129061760G>A | CA435591501 | GP9 | c.21G>A (p.Leu7=) | |
| 3 | g.129061760G>C | CA435591496 | GP9 | c.21G>C (p.Leu7=) | |
| 3 | g.129061760G>T | CA435591497 | GP9 | c.21G>T (p.Leu7=) | |
| 3 | g.129061761T>A | CA354446341 | GP9 | c.22T>A (p.Phe8Ile) | |
| 3 | g.129061761T>C | CA354446344 | GP9 | c.22T>C (p.Phe8Leu) | |
| 3 | g.129061761T>G | CA354446351 | GP9 | c.22T>G (p.Phe8Val) | |
| 3 | g.129061762T>A | CA354446360 | GP9 | c.23T>A (p.Phe8Tyr) | |
| 3 | g.129061762T>C | CA354446361 | GP9 | c.23T>C (p.Phe8Ser) | |
| 3 | g.129061762T>G | CA354446362 | GP9 | c.23T>G (p.Phe8Cys) | |
| 3 | g.129061763C>A | CA354446364 | GP9 | c.24C>A (p.Phe8Leu) | dbSNP gnomAD v4 |
| 3 | g.129061763C= | CA1401004640 | GP9 | c.24C= (p.Phe8=) | |
| 3 | g.129061763C>G | CA2602624 | GP9 | c.24C>G (p.Phe8Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061763C>T | CA435591508 | GP9 | c.24C>T (p.Phe8=) | gnomAD v4 COSMIC |
| 3 | g.129061764C>A | CA354446367 | GP9 | c.25C>A (p.Leu9Met) | |
| 3 | g.129061764C>G | CA354446369 | GP9 | c.25C>G (p.Leu9Val) | |
| 3 | g.129061764C>T | CA435766460 | GP9 | c.25C>T (p.Leu9=) | |
| 3 | g.129061765T>A | CA354446375 | GP9 | c.26T>A (p.Leu9Gln) | |
| 3 | g.129061765T>C | CA354446374 | GP9 | c.26T>C (p.Leu9Pro) | |
| 3 | g.129061765T>G | CA354446373 | GP9 | c.26T>G (p.Leu9Arg) | |
| 3 | g.129061766G>A | CA435766464 | GP9 | c.27G>A (p.Leu9=) | gnomAD v4 |
| 3 | g.129061766G>C | CA435766465 | GP9 | c.27G>C (p.Leu9=) | |
| 3 | g.129061766G>T | CA435766466 | GP9 | c.27G>T (p.Leu9=) | gnomAD v4 |
| 3 | g.129061767C>A | CA354446378 | GP9 | c.28C>A (p.Leu10Ile) | gnomAD v4 |
| 3 | g.129061767C>G | CA354446380 | GP9 | c.28C>G (p.Leu10Val) | |
| 3 | g.129061767C>T | CA354446382 | GP9 | c.28C>T (p.Leu10Phe) | gnomAD v4 |
| 3 | g.129061768T>A | CA354446384 | GP9 | c.29T>A (p.Leu10His) | |
| 3 | g.129061768T>C | CA354446387 | GP9 | c.29T>C (p.Leu10Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061768T>G | CA354446389 | GP9 | c.29T>G (p.Leu10Arg) | |
| 3 | g.129061768T= | CA1401004641 | GP9 | c.29T= (p.Leu10=) | |
| 3 | g.129061769C>A | CA435766471 | GP9 | c.30C>A (p.Leu10=) | |
| 3 | g.129061769C>G | CA435766473 | GP9 | c.30C>G (p.Leu10=) | ClinVar dbSNP |
| 3 | g.129061769C>T | CA435766472 | GP9 | c.30C>T (p.Leu10=) | |
| 3 | g.129061770T>A | CA354446392 | GP9 | c.31T>A (p.Trp11Arg) | |
| 3 | g.129061770T>C | CA354446395 | GP9 | c.31T>C (p.Trp11Arg) | |
| 3 | g.129061770T>G | CA354446397 | GP9 | c.31T>G (p.Trp11Gly) | |
| 3 | g.129061771G>A | CA354446399 | GP9 | c.32G>A (p.Trp11Ter) | |
| 3 | g.129061771G>C | CA354446401 | GP9 | c.32G>C (p.Trp11Ser) | |
| 3 | g.129061771G>T | CA354446403 | GP9 | c.32G>T (p.Trp11Leu) | gnomAD v4 |
| 3 | g.129061772G>A | CA354446409 | GP9 | c.33G>A (p.Trp11Ter) | |
| 3 | g.129061772G>C | CA354446405 | GP9 | c.33G>C (p.Trp11Cys) | |
| 3 | g.129061772G>T | CA354446407 | GP9 | c.33G>T (p.Trp11Cys) | |
| 3 | g.129061773G>A | CA82552115 | GP9 | c.34G>A (p.Ala12Thr) | dbSNP |
| 3 | g.129061773G>C | CA354446412 | GP9 | c.34G>C (p.Ala12Pro) | |
| 3 | g.129061773G= | CA1401004642 | GP9 | c.34G= (p.Ala12=) | |
| 3 | g.129061773G>T | CA354446414 | GP9 | c.34G>T (p.Ala12Ser) | gnomAD v4 |
| 3 | g.129061774C>A | CA354446417 | GP9 | c.35C>A (p.Ala12Asp) | |
| 3 | g.129061774C>G | CA354446419 | GP9 | c.35C>G (p.Ala12Gly) | |
| 3 | g.129061774C>T | CA354446420 | GP9 | c.35C>T (p.Ala12Val) | |
| 3 | g.129061775C>A | CA435766491 | GP9 | c.36C>A (p.Ala12=) | |
| 3 | g.129061775C>G | CA435766489 | GP9 | c.36C>G (p.Ala12=) | |
| 3 | g.129061775C>T | CA435766490 | GP9 | c.36C>T (p.Ala12=) | gnomAD v4 |
| 3 | g.129061776A>C | CA354446423 | GP9 | c.37A>C (p.Thr13Pro) | |
| 3 | g.129061776A>G | CA354446424 | GP9 | c.37A>G (p.Thr13Ala) | gnomAD v4 COSMIC |
| 3 | g.129061776A>T | CA354446425 | GP9 | c.37A>T (p.Thr13Ser) | |
| 3 | g.129061777C>A | CA354446428 | GP9 | c.38C>A (p.Thr13Lys) | |
| 3 | g.129061777C= | CA1401004643 | GP9 | c.38C= (p.Thr13=) | |
| 3 | g.129061777C>G | CA354446430 | GP9 | c.38C>G (p.Thr13Arg) | |
| 3 | g.129061777C>T | CA354446432 | GP9 | c.38C>T (p.Thr13Ile) | dbSNP gnomAD v2 |
| 3 | g.129061778A= | CA1401004644 | GP9 | c.39A= (p.Thr13=) | |
| 3 | g.129061778A>C | CA435766498 | GP9 | c.39A>C (p.Thr13=) | |
| 3 | g.129061778A>G | CA435766496 | GP9 | c.39A>G (p.Thr13=) | gnomAD v4 |
| 3 | g.129061778A>T | CA435766499 | GP9 | c.39A>T (p.Thr13=) | dbSNP |
| 3 | g.129061779G>A | CA354446435 | GP9 | c.40G>A (p.Ala14Thr) | |
| 3 | g.129061779G>C | CA354446436 | GP9 | c.40G>C (p.Ala14Pro) | |
| 3 | g.129061779G>T | CA354446434 | GP9 | c.40G>T (p.Ala14Ser) | |
| 3 | g.129061780C>A | CA354446441 | GP9 | c.41C>A (p.Ala14Glu) | gnomAD v4 |
| 3 | g.129061780C= | CA1401004645 | GP9 | c.41C= (p.Ala14=) | |
| 3 | g.129061780C>G | CA354446438 | GP9 | c.41C>G (p.Ala14Gly) | |
| 3 | g.129061780C>T | CA2602625 | GP9 | c.41C>T (p.Ala14Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129061781A>C | CA435766503 | GP9 | c.42A>C (p.Ala14=) | |
| 3 | g.129061781A>G | CA435766507 | GP9 | c.42A>G (p.Ala14=) | |
| 3 | g.129061781A>T | CA435766505 | GP9 | c.42A>T (p.Ala14=) | |
| 3 | g.129061782G>A | CA354446442 | GP9 | c.43G>A (p.Glu15Lys) | |
| 3 | g.129061782G>C | CA354446444 | GP9 | c.43G>C (p.Glu15Gln) | |
| 3 | g.129061782G>T | CA354446446 | GP9 | c.43G>T (p.Glu15Ter) | gnomAD v4 |
| 3 | g.129061783del | CA2703971117 | GP9 | c.44del (p.Glu15GlyfsTer?) | dbSNP |
| 3 | g.129061783A>C | CA354446448 | GP9 | c.44A>C (p.Glu15Ala) | |
| 3 | g.129061783A>G | CA354446450 | GP9 | c.44A>G (p.Glu15Gly) | |
| 3 | g.129061783A>T | CA354446452 | GP9 | c.44A>T (p.Glu15Val) | |
| 3 | g.129061784G>A | CA435766510 | GP9 | c.45G>A (p.Glu15=) | gnomAD v4 |
| 3 | g.129061784G>C | CA354446454 | GP9 | c.45G>C (p.Glu15Asp) | |
| 3 | g.129061784G>T | CA354446456 | GP9 | c.45G>T (p.Glu15Asp) | |
| 3 | g.129061785G>A | CA354446457 | GP9 | c.46G>A (p.Ala16Thr) | |
| 3 | g.129061785G>C | CA354446458 | GP9 | c.46G>C (p.Ala16Pro) | |
| 3 | g.129061785G>T | CA354446460 | GP9 | c.46G>T (p.Ala16Ser) | COSMIC |
| 3 | g.129061786C>A | CA354446466 | GP9 | c.47C>A (p.Ala16Asp) | |
| 3 | g.129061786C= | CA1401004646 | GP9 | c.47C= (p.Ala16=) | |
| 3 | g.129061786C>G | CA354446462 | GP9 | c.47C>G (p.Ala16Gly) | |
| 3 | g.129061786C>T | CA354446464 | GP9 | c.47C>T (p.Ala16Val) | dbSNP gnomAD v2 |
| 3 | g.129061787C>A | CA435766515 | GP9 | c.48C>A (p.Ala16=) | |
| 3 | g.129061787C>G | CA435766516 | GP9 | c.48C>G (p.Ala16=) | |
| 3 | g.129061787C>T | CA435766517 | GP9 | c.48C>T (p.Ala16=) | gnomAD v4 |
| 3 | g.129061788A>C | CA354446468 | GP9 | c.49A>C (p.Thr17Pro) | |
| 3 | g.129061788A>G | CA354446469 | GP9 | c.49A>G (p.Thr17Ala) | |
| 3 | g.129061788A>T | CA354446471 | GP9 | c.49A>T (p.Thr17Ser) | |
| 3 | g.129061789C>A | CA354446473 | GP9 | c.50C>A (p.Thr17Asn) | |
| 3 | g.129061789C= | CA1401004647 | GP9 | c.50C= (p.Thr17=) | |
| 3 | g.129061789C>G | CA354446475 | GP9 | c.50C>G (p.Thr17Ser) | |
| 3 | g.129061789C>T | CA354446479 | GP9 | c.50C>T (p.Thr17Ile) | dbSNP gnomAD v2 |
| 3 | g.129061790C>A | CA435766523 | GP9 | c.51C>A (p.Thr17=) | |
| 3 | g.129061790C>G | CA435766522 | GP9 | c.51C>G (p.Thr17=) | |
| 3 | g.129061790C>T | CA435766524 | GP9 | c.51C>T (p.Thr17=) | |
| 3 | g.129061791A>C | CA354446482 | GP9 | c.52A>C (p.Lys18Gln) | |
| 3 | g.129061791A>G | CA354446484 | GP9 | c.52A>G (p.Lys18Glu) | |
| 3 | g.129061791A>T | CA354446486 | GP9 | c.52A>T (p.Lys18Ter) | |
| 3 | g.129061792A= | CA1401004648 | GP9 | c.53A= (p.Lys18=) | |
| 3 | g.129061792A>C | CA82552119 | GP9 | c.53A>C (p.Lys18Thr) | dbSNP |
| 3 | g.129061792A>G | CA354446487 | GP9 | c.53A>G (p.Lys18Arg) | |
| 3 | g.129061792A>T | CA354446489 | GP9 | c.53A>T (p.Lys18Met) | |
| 3 | g.129061793G>A | CA435766528 | GP9 | c.54G>A (p.Lys18=) | |
| 3 | g.129061793G>C | CA354446492 | GP9 | c.54G>C (p.Lys18Asn) | dbSNP gnomAD v4 |
| 3 | g.129061793G= | CA1401004649 | GP9 | c.54G= (p.Lys18=) | |
| 3 | g.129061793G>T | CA354446491 | GP9 | c.54G>T (p.Lys18Asn) | |
| 3 | g.129061794G>A | CA354446494 | GP9 | c.55G>A (p.Asp19Asn) | dbSNP gnomAD v4 COSMIC |
| 3 | g.129061794G>C | CA354446496 | GP9 | c.55G>C (p.Asp19His) | |
| 3 | g.129061794G= | CA1401004650 | GP9 | c.55G= (p.Asp19=) | |
| 3 | g.129061794G>T | CA354446497 | GP9 | c.55G>T (p.Asp19Tyr) | gnomAD v4 |
| 3 | g.129061795A= | CA1401004651 | GP9 | c.56A= (p.Asp19=) | |
| 3 | g.129061795A>C | CA354446499 | GP9 | c.56A>C (p.Asp19Ala) | |
| 3 | g.129061795A>G | CA2602626 | GP9 | c.56A>G (p.Asp19Gly) | dbSNP ExAC gnomAD v2 |
| 3 | g.129061795A>T | CA354446502 | GP9 | c.56A>T (p.Asp19Val) | |
| 3 | g.129061796C>A | CA354446503 | GP9 | c.57C>A (p.Asp19Glu) | |
| 3 | g.129061796C>G | CA354446504 | GP9 | c.57C>G (p.Asp19Glu) | |
| 3 | g.129061796C>T | CA435766529 | GP9 | c.57C>T (p.Asp19=) | |
| 3 | g.129061797T>A | CA354446506 | GP9 | c.58T>A (p.Cys20Ser) | gnomAD v4 |
| 3 | g.129061797T>C | CA354446507 | GP9 | c.58T>C (p.Cys20Arg) | |
| 3 | g.129061797T>G | CA354446509 | GP9 | c.58T>G (p.Cys20Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129061797T= | CA1401004652 | GP9 | c.58T= (p.Cys20=) | |
| 3 | g.129061798G>A | CA354446511 | GP9 | c.59G>A (p.Cys20Tyr) | |
| 3 | g.129061798G>C | CA354446513 | GP9 | c.59G>C (p.Cys20Ser) | |
| 3 | g.129061798G>T | CA354446515 | GP9 | c.59G>T (p.Cys20Phe) | |
| 3 | g.129061799C>A | CA354446519 | GP9 | c.60C>A (p.Cys20Ter) | gnomAD v4 |
| 3 | g.129061799C= | CA1401004653 | GP9 | c.60C= (p.Cys20=) | |
| 3 | g.129061799C>G | CA354446517 | GP9 | c.60C>G (p.Cys20Trp) | |
| 3 | g.129061799C>T | CA435766532 | GP9 | c.60C>T (p.Cys20=) | dbSNP gnomAD v2 |
| 3 | g.129061802dup | CA2758355598 | GP9 | c.63dup (p.Ser22GlnfsTer?) | |
| 3 | g.129061800C>A | CA354446521 | GP9 | c.61C>A (p.Pro21Thr) | |
| 3 | g.129061800C>G | CA354446523 | GP9 | c.61C>G (p.Pro21Ala) | |
| 3 | g.129061800C>T | CA354446524 | GP9 | c.61C>T (p.Pro21Ser) | |
| 3 | g.129061801C>A | CA354446525 | GP9 | c.62C>A (p.Pro21His) | |
| 3 | g.129061801C>G | CA354446527 | GP9 | c.62C>G (p.Pro21Arg) | |
| 3 | g.129061801C>T | CA354446529 | GP9 | c.62C>T (p.Pro21Leu) | |
| 3 | g.129061802C>A | CA435766536 | GP9 | c.63C>A (p.Pro21=) | dbSNP |
| 3 | g.129061802C= | CA1401004654 | GP9 | c.63C= (p.Pro21=) | |
| 3 | g.129061802C>G | CA435766535 | GP9 | c.63C>G (p.Pro21=) | |
| 3 | g.129061802C>T | CA435766537 | GP9 | c.63C>T (p.Pro21=) | |
| 3 | g.129061803A= | CA1401004655 | GP9 | c.64A= (p.Ser22=) | |
| 3 | g.129061803A>C | CA354446538 | GP9 | c.64A>C (p.Ser22Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129061803A>G | CA354446532 | GP9 | c.64A>G (p.Ser22Gly) | |
| 3 | g.129061803A>T | CA354446535 | GP9 | c.64A>T (p.Ser22Cys) | |
| 3 | g.129061804G>A | CA354446541 | GP9 | c.65G>A (p.Ser22Asn) | |
| 3 | g.129061804G>C | CA2602627 | GP9 | c.65G>C (p.Ser22Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129061804G= | CA1401004656 | GP9 | c.65G= (p.Ser22=) | |
| 3 | g.129061804G>T | CA354446553 | GP9 | c.65G>T (p.Ser22Ile) | |
| 3 | g.129061805C>A | CA354446557 | GP9 | c.66C>A (p.Ser22Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061805C= | CA1401004657 | GP9 | c.66C= (p.Ser22=) | |
| 3 | g.129061805C>G | CA354446559 | GP9 | c.66C>G (p.Ser22Arg) | |
| 3 | g.129061805C>T | CA435766538 | GP9 | c.66C>T (p.Ser22=) | |
| 3 | g.129061806C>A | CA354446560 | GP9 | c.67C>A (p.Pro23Thr) | gnomAD v4 |
| 3 | g.129061806C= | CA1401004658 | GP9 | c.67C= (p.Pro23=) | |
| 3 | g.129061806C>G | CA354446573 | GP9 | c.67C>G (p.Pro23Ala) | |
| 3 | g.129061806C>T | CA354446562 | GP9 | c.67C>T (p.Pro23Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061807C>A | CA354446576 | GP9 | c.68C>A (p.Pro23Gln) | gnomAD v4 |
| 3 | g.129061807C>G | CA354446582 | GP9 | c.68C>G (p.Pro23Arg) | |
| 3 | g.129061807C>T | CA354446578 | GP9 | c.68C>T (p.Pro23Leu) | COSMIC |
| 3 | g.129061808A= | CA1401004659 | GP9 | c.69A= (p.Pro23=) | |
| 3 | g.129061808A>C | CA435766543 | GP9 | c.69A>C (p.Pro23=) | |
| 3 | g.129061808A>G | CA435766540 | GP9 | c.69A>G (p.Pro23=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061808A>T | CA435766541 | GP9 | c.69A>T (p.Pro23=) | |
| 3 | g.129061809del | CA2667574785 | GP9 | c.70del (p.Cys24ValfsTer?) | gnomAD v4 |
| 3 | g.129061809T>A | CA354446589 | GP9 | c.70T>A (p.Cys24Ser) | |
| 3 | g.129061809T>C | CA123181 | GP9 | c.70T>C (p.Cys24Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061809T>G | CA354446592 | GP9 | c.70T>G (p.Cys24Gly) | |
| 3 | g.129061809T= | CA1401004660 | GP9 | c.70T= (p.Cys24=) | |
| 3 | g.129061810G>A | CA354446606 | GP9 | c.71G>A (p.Cys24Tyr) | |
| 3 | g.129061810G>C | CA354446607 | GP9 | c.71G>C (p.Cys24Ser) | |
| 3 | g.129061810G>T | CA354446608 | GP9 | c.71G>T (p.Cys24Phe) | |
| 3 | g.129061811T>A | CA354446610 | GP9 | c.72T>A (p.Cys24Ter) | |
| 3 | g.129061811T>C | CA435766547 | GP9 | c.72T>C (p.Cys24=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061811T>G | CA354446617 | GP9 | c.72T>G (p.Cys24Trp) | |
| 3 | g.129061811T= | CA1401004661 | GP9 | c.72T= (p.Cys24=) | |
| 3 | g.129061812A= | CA1401004662 | GP9 | c.73A= (p.Thr25=) | |
| 3 | g.129061812A>C | CA354446618 | GP9 | c.73A>C (p.Thr25Pro) | dbSNP gnomAD v4 |
| 3 | g.129061812A>G | CA354446620 | GP9 | c.73A>G (p.Thr25Ala) | |
| 3 | g.129061812A>T | CA354446621 | GP9 | c.73A>T (p.Thr25Ser) | |
| 3 | g.129061812_129061813del | CA2667574786 | GP9 | c.73_74del (p.Thr25LeufsTer?) | gnomAD v4 |