Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.6714300_6714303dup | CA2320568523 | C3 | c.477-52_477-49dup (n.477-52_477-49dup) c.600-52_600-49dup (n.600-52_600-49dup) n.52_55dup | dbSNP gnomAD v4 |
19 | g.6714299C>T | CA2587878686 | C3 | c.477-51G>A (n.477-51G>A) c.600-51G>A (n.600-51G>A) n.53G>A | gnomAD v4 |
19 | g.6714303C= | CA2320568524 | C3 | c.476+49G= (n.476+49G=) c.599+49G= (n.599+49G=) n.49G= | |
19 | g.6714303C>G | CA631722478 | C3 | c.476+49G>C (n.476+49G>C) c.599+49G>C (n.599+49G>C) n.49G>C | dbSNP gnomAD v2 |
19 | g.6714303C>T | CA2587878687 | C3 | c.476+49G>A (n.476+49G>A) c.599+49G>A (n.599+49G>A) n.49G>A | gnomAD v4 |
19 | g.6714305C>G | CA2587878688 | C3 | c.476+47G>C (n.476+47G>C) c.599+47G>C (n.599+47G>C) n.47G>C | gnomAD v4 |
19 | g.6714306C>A | CA2576592449 | C3 | c.476+46G>T (n.476+46G>T) c.599+46G>T (n.599+46G>T) n.46G>T | |
19 | g.6714306C= | CA2320568525 | C3 | c.476+46G= (n.476+46G=) c.599+46G= (n.599+46G=) n.46G= | |
19 | g.6714306C>G | CA2587878689 | C3 | c.476+46G>C (n.476+46G>C) c.599+46G>C (n.599+46G>C) n.46G>C | gnomAD v4 |
19 | g.6714306C>T | CA9129763 | C3 | c.476+46G>A (n.476+46G>A) c.599+46G>A (n.599+46G>A) n.46G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.6714307G>A | CA9129764 | C3 | c.476+45C>T (n.476+45C>T) c.599+45C>T (n.599+45C>T) n.45C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714307G= | CA2320568526 | C3 | c.476+45C= (n.476+45C=) c.599+45C= (n.599+45C=) n.45C= | |
19 | g.6714307G>T | CA304799037 | C3 | c.476+45C>A (n.476+45C>A) c.599+45C>A (n.599+45C>A) n.45C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714308G>A | CA2587878690 | C3 | c.476+44C>T (n.476+44C>T) c.599+44C>T (n.599+44C>T) n.44C>T | gnomAD v4 |
19 | g.6714308G>T | CA2587878691 | C3 | c.476+44C>A (n.476+44C>A) c.599+44C>A (n.599+44C>A) n.44C>A | gnomAD v4 |
19 | g.6714309G>A | CA631722479 | C3 | c.476+43C>T (n.476+43C>T) c.599+43C>T (n.599+43C>T) n.43C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714309G>C | CA2587878692 | C3 | c.476+43C>G (n.476+43C>G) c.599+43C>G (n.599+43C>G) n.43C>G | gnomAD v4 |
19 | g.6714309G= | CA2320568527 | C3 | c.476+43C= (n.476+43C=) c.599+43C= (n.599+43C=) n.43C= | |
19 | g.6714310G>A | CA9129766 | C3 | c.476+42C>T (n.476+42C>T) c.599+42C>T (n.599+42C>T) n.42C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.6714310G= | CA2320568528 | C3 | c.476+42C= (n.476+42C=) c.599+42C= (n.599+42C=) n.42C= | |
19 | g.6714310G>T | CA9129765 | C3 | c.476+42C>A (n.476+42C>A) c.599+42C>A (n.599+42C>A) n.42C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714311A= | CA2320568529 | C3 | c.476+41T= (n.476+41T=) c.599+41T= (n.599+41T=) n.41T= | |
19 | g.6714311A>G | CA9129767 | C3 | c.476+41T>C (n.476+41T>C) c.599+41T>C (n.599+41T>C) n.41T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714313del | CA2587878693 | C3 | c.476+39del (n.476+39del) c.599+39del (n.599+39del) n.39del | gnomAD v4 |
19 | g.6714313A>G | CA2587878694 | C3 | c.476+39T>C (n.476+39T>C) c.599+39T>C (n.599+39T>C) n.39T>C | gnomAD v4 |
19 | g.6714314G>A | CA2587878695 | C3 | c.476+38C>T (n.476+38C>T) c.599+38C>T (n.599+38C>T) n.38C>T | gnomAD v4 |
19 | g.6714315G>A | CA2587878696 | C3 | c.476+37C>T (n.476+37C>T) c.599+37C>T (n.599+37C>T) n.37C>T | gnomAD v4 |
19 | g.6714316G>A | CA2587878697 | C3 | c.476+36C>T (n.476+36C>T) c.599+36C>T (n.599+36C>T) n.36C>T | gnomAD v4 |
19 | g.6714317G= | CA2320568530 | C3 | c.476+35C= (n.476+35C=) c.599+35C= (n.599+35C=) n.35C= | |
19 | g.6714317G>T | CA9129768 | C3 | c.476+35C>A (n.476+35C>A) c.599+35C>A (n.599+35C>A) n.35C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714320C>T | CA2587878698 | C3 | c.476+32G>A (n.476+32G>A) c.599+32G>A (n.599+32G>A) n.32G>A | gnomAD v4 |
19 | g.6714321C>T | CA2587878699 | C3 | c.476+31G>A (n.476+31G>A) c.599+31G>A (n.599+31G>A) n.31G>A | gnomAD v4 |
19 | g.6714324G>A | CA2320568532 | C3 | c.476+28C>T (n.476+28C>T) c.599+28C>T (n.599+28C>T) n.28C>T | dbSNP gnomAD v4 |
19 | g.6714324G= | CA2320568531 | C3 | c.476+28C= (n.476+28C=) c.599+28C= (n.599+28C=) n.28C= | |
19 | g.6714326G>A | CA2587878700 | C3 | c.476+26C>T (n.476+26C>T) c.599+26C>T (n.599+26C>T) n.26C>T | gnomAD v4 |
19 | g.6714327C>A | CA631722480 | C3 | c.476+25G>T (n.476+25G>T) c.599+25G>T (n.599+25G>T) n.25G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714327C= | CA2320568533 | C3 | c.476+25G= (n.476+25G=) c.599+25G= (n.599+25G=) n.25G= | |
19 | g.6714327C>T | CA304799056 | C3 | c.476+25G>A (n.476+25G>A) c.599+25G>A (n.599+25G>A) n.25G>A | dbSNP |
19 | g.6714331del | CA2813446791 | C3 | c.476+25del (n.476+25del) c.599+25del (n.599+25del) n.25del | |
19 | g.6714328C>A | CA9129769 | C3 | c.476+24G>T (n.476+24G>T) c.599+24G>T (n.599+24G>T) n.24G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714328C= | CA2320568534 | C3 | c.476+24G= (n.476+24G=) c.599+24G= (n.599+24G=) n.24G= | |
19 | g.6714329C= | CA2320568535 | C3 | c.476+23G= (n.476+23G=) c.599+23G= (n.599+23G=) n.23G= | |
19 | g.6714329C>T | CA2320568536 | C3 | c.476+23G>A (n.476+23G>A) c.599+23G>A (n.599+23G>A) n.23G>A | dbSNP |
19 | g.6714332T>C | CA631722481 | C3 | c.476+20A>G (n.476+20A>G) c.599+20A>G (n.599+20A>G) n.20A>G | dbSNP gnomAD v2 |
19 | g.6714332T= | CA2320568537 | C3 | c.476+20A= (n.476+20A=) c.599+20A= (n.599+20A=) n.20A= | |
19 | g.6714333C= | CA2320568538 | C3 | c.476+19G= (n.476+19G=) c.599+19G= (n.599+19G=) n.19G= | |
19 | g.6714333C>T | CA2320568539 | C3 | c.476+19G>A (n.476+19G>A) c.599+19G>A (n.599+19G>A) n.19G>A | dbSNP gnomAD v4 |
19 | g.6714334C>G | CA2587878701 | C3 | c.476+18G>C (n.476+18G>C) c.599+18G>C (n.599+18G>C) n.18G>C | gnomAD v4 |
19 | g.6714339G>A | CA2587878702 | C3 | c.476+13C>T (n.476+13C>T) c.599+13C>T (n.599+13C>T) n.13C>T | gnomAD v4 |
19 | g.6714339G>T | CA2587878703 | C3 | c.476+13C>A (n.476+13C>A) c.599+13C>A (n.599+13C>A) n.13C>A | gnomAD v4 |
19 | g.6714342C>A | CA2499225613 | C3 | c.476+10G>T (n.476+10G>T) c.599+10G>T (n.599+10G>T) n.10G>T | ClinVar dbSNP |
19 | g.6714342C= | CA2320568540 | C3 | c.476+10G= (n.476+10G=) c.599+10G= (n.599+10G=) n.10G= | |
19 | g.6714342C>G | CA631722482 | C3 | c.476+10G>C (n.476+10G>C) c.599+10G>C (n.599+10G>C) n.10G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714343del | CA2587878704 | C3 | c.476+10del (n.476+10del) c.599+10del (n.599+10del) n.10del | gnomAD v4 |
19 | g.6714343C= | CA2320568541 | C3 | c.476+9G= (n.476+9G=) c.599+9G= (n.599+9G=) n.9G= | |
19 | g.6714343C>G | CA2587878705 | C3 | c.476+9G>C (n.476+9G>C) c.599+9G>C (n.599+9G>C) n.9G>C | gnomAD v4 |
19 | g.6714343C>T | CA304799064 | C3 | c.476+9G>A (n.476+9G>A) c.599+9G>A (n.599+9G>A) n.9G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714347C>A | CA2320568543 | C3 | c.476+5G>T (n.476+5G>T) c.599+5G>T (n.599+5G>T) n.5G>T | dbSNP |
19 | g.6714347C= | CA2320568542 | C3 | c.476+5G= (n.476+5G=) c.599+5G= (n.599+5G=) n.5G= | |
19 | g.6714348A>G | CA2580097046 | C3 | c.476+4T>C (n.476+4T>C) c.599+4T>C (n.599+4T>C) n.4T>C | ClinVar |
19 | g.6714350A>C | CA403643306 | C3 | c.476+2T>G (n.476+2T>G) c.599+2T>G (n.599+2T>G) n.2T>G | |
19 | g.6714350A>G | CA403643307 | C3 | c.476+2T>C (n.476+2T>C) c.599+2T>C (n.599+2T>C) n.2T>C | |
19 | g.6714350A>T | CA403643309 | C3 | c.476+2T>A (n.476+2T>A) c.599+2T>A (n.599+2T>A) n.2T>A | |
19 | g.6714351C>A | CA403643312 | C3 | c.476+1G>T (n.476+1G>T) c.599+1G>T (n.599+1G>T) n.1G>T | |
19 | g.6714351C>G | CA403643313 | C3 | c.476+1G>C (n.476+1G>C) c.599+1G>C (n.599+1G>C) n.1G>C | |
19 | g.6714351C>T | CA403643314 | C3 | c.476+1G>A (n.476+1G>A) c.599+1G>A (n.599+1G>A) n.1G>A | dbSNP gnomAD v4 |
19 | g.6714352T>A | CA403643316 | C3 | c.476A>T (p.Asn159Ile) c.599A>T (p.Asn200Ile) | gnomAD v4 |
19 | g.6714352T>C | CA403643319 | C3 | c.476A>G (p.Asn159Ser) c.599A>G (p.Asn200Ser) | gnomAD v4 |
19 | g.6714352T>G | CA403643318 | C3 | c.476A>C (p.Asn159Thr) c.599A>C (p.Asn200Thr) | |
19 | g.6714353T>A | CA403643321 | C3 | c.475A>T (p.Asn159Tyr) c.598A>T (p.Asn200Tyr) | |
19 | g.6714353T>C | CA403643323 | C3 | c.475A>G (p.Asn159Asp) c.598A>G (p.Asn200Asp) | |
19 | g.6714353T>G | CA403643324 | C3 | c.475A>C (p.Asn159His) c.598A>C (p.Asn200His) | |
19 | g.6714354G>A | CA9129770 | C3 | c.474C>T (p.Val158=) c.597C>T (p.Val199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714354G>C | CA9129771 | C3 | c.474C>G (p.Val158=) c.597C>G (p.Val199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714354G= | CA2320568544 | C3 | c.474C= (p.Val158=) c.597C= (p.Val199=) | |
19 | g.6714354G>T | CA505125013 | C3 | c.474C>A (p.Val158=) c.597C>A (p.Val199=) | |
19 | g.6714355A>C | CA403643327 | C3 | c.473T>G (p.Val158Gly) c.596T>G (p.Val199Gly) | |
19 | g.6714355A>G | CA403643329 | C3 | c.473T>C (p.Val158Ala) c.596T>C (p.Val199Ala) | |
19 | g.6714355A>T | CA403643331 | C3 | c.473T>A (p.Val158Asp) c.596T>A (p.Val199Asp) | |
19 | g.6714356C>A | CA403643332 | C3 | c.472G>T (p.Val158Phe) c.595G>T (p.Val199Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714356C= | CA2320568545 | C3 | c.472G= (p.Val158=) c.595G= (p.Val199=) | |
19 | g.6714356C>G | CA403643334 | C3 | c.472G>C (p.Val158Leu) c.595G>C (p.Val199Leu) | |
19 | g.6714356C>T | CA9129772 | C3 | c.472G>A (p.Val158Ile) c.595G>A (p.Val199Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714357G>A | CA9129773 | C3 | c.471C>T (p.Leu157=) c.594C>T (p.Leu198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.6714357G>C | CA505125014 | C3 | c.471C>G (p.Leu157=) c.594C>G (p.Leu198=) | |
19 | g.6714357G= | CA2320568546 | C3 | c.471C= (p.Leu157=) c.594C= (p.Leu198=) | |
19 | g.6714357G>T | CA505125015 | C3 | c.471C>A (p.Leu157=) c.594C>A (p.Leu198=) | gnomAD v4 |
19 | g.6714358A>C | CA403643336 | C3 | c.470T>G (p.Leu157Arg) c.593T>G (p.Leu198Arg) | gnomAD v4 |
19 | g.6714358A>G | CA403643339 | C3 | c.470T>C (p.Leu157Pro) c.593T>C (p.Leu198Pro) | |
19 | g.6714358A>T | CA403643337 | C3 | c.470T>A (p.Leu157His) c.593T>A (p.Leu198His) | gnomAD v4 |
19 | g.6714359G>A | CA403643340 | C3 | c.469C>T (p.Leu157Phe) c.592C>T (p.Leu198Phe) | |
19 | g.6714359G>C | CA403643341 | C3 | c.469C>G (p.Leu157Val) c.592C>G (p.Leu198Val) | |
19 | g.6714359G>T | CA403643343 | C3 | c.469C>A (p.Leu157Ile) c.592C>A (p.Leu198Ile) | |
19 | g.6714360T>A | CA403643344 | C3 | c.468A>T (p.Glu156Asp) c.591A>T (p.Glu197Asp) | |
19 | g.6714360T>C | CA505125016 | C3 | c.468A>G (p.Glu156=) c.591A>G (p.Glu197=) | ClinVar dbSNP gnomAD v4 |
19 | g.6714360T>G | CA403643346 | C3 | c.468A>C (p.Glu156Asp) c.591A>C (p.Glu197Asp) | |
19 | g.6714361T>A | CA403643347 | C3 | c.467A>T (p.Glu156Val) c.590A>T (p.Glu197Val) | |
19 | g.6714361T>C | CA403643348 | C3 | c.467A>G (p.Glu156Gly) c.590A>G (p.Glu197Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714361T>G | CA403643350 | C3 | c.467A>C (p.Glu156Ala) c.590A>C (p.Glu197Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714361T= | CA2320568547 | C3 | c.467A= (p.Glu156=) c.590A= (p.Glu197=) | |
19 | g.6714362C>A | CA403643352 | C3 | c.466G>T (p.Glu156Ter) c.589G>T (p.Glu197Ter) | |
19 | g.6714362C= | CA2320568548 | C3 | c.466G= (p.Glu156=) c.589G= (p.Glu197=) | |
19 | g.6714362C>G | CA403643353 | C3 | c.466G>C (p.Glu156Gln) c.589G>C (p.Glu197Gln) | dbSNP |
19 | g.6714362C>T | CA403643354 | C3 | c.466G>A (p.Glu156Lys) c.589G>A (p.Glu197Lys) | |
19 | g.6714363del | CA2587878706 | C3 | c.466del (p.Glu156AsnfsTer28) c.589del (p.Glu197AsnfsTer28) | gnomAD v4 |
19 | g.6714363C>A | CA505125017 | C3 | c.465G>T (p.Pro155=) c.588G>T (p.Pro196=) | |
19 | g.6714363C= | CA2320568549 | C3 | c.465G= (p.Pro155=) c.588G= (p.Pro196=) | |
19 | g.6714363C>G | CA505125018 | C3 | c.465G>C (p.Pro155=) c.588G>C (p.Pro196=) | |
19 | g.6714363C>T | CA9129774 | C3 | c.465G>A (p.Pro155=) c.588G>A (p.Pro196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714364G>A | CA403643358 | C3 | c.464C>T (p.Pro155Leu) c.587C>T (p.Pro196Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714364G>C | CA403643356 | C3 | c.464C>G (p.Pro155Arg) c.587C>G (p.Pro196Arg) | |
19 | g.6714364G= | CA2320568550 | C3 | c.464C= (p.Pro155=) c.587C= (p.Pro196=) | |
19 | g.6714364G>T | CA403643355 | C3 | c.464C>A (p.Pro155Gln) c.587C>A (p.Pro196Gln) | |
19 | g.6714365G>A | CA403643359 | C3 | c.463C>T (p.Pro155Ser) c.586C>T (p.Pro196Ser) | |
19 | g.6714365G>C | CA403643360 | C3 | c.463C>G (p.Pro155Ala) c.586C>G (p.Pro196Ala) | |
19 | g.6714365G>T | CA403643362 | C3 | c.463C>A (p.Pro155Thr) c.586C>A (p.Pro196Thr) | |
19 | g.6714366A>C | CA403643363 | C3 | c.462T>G (p.Ile154Met) c.585T>G (p.Ile195Met) | |
19 | g.6714366A>G | CA505125020 | C3 | c.462T>C (p.Ile154=) c.585T>C (p.Ile195=) | gnomAD v4 |
19 | g.6714366A>T | CA505125019 | C3 | c.462T>A (p.Ile154=) c.585T>A (p.Ile195=) | |
19 | g.6714367A= | CA2320568551 | C3 | c.461T= (p.Ile154=) c.584T= (p.Ile195=) | |
19 | g.6714367A>C | CA403643365 | C3 | c.461T>G (p.Ile154Ser) c.584T>G (p.Ile195Ser) | |
19 | g.6714367A>G | CA9129775 | C3 | c.461T>C (p.Ile154Thr) c.584T>C (p.Ile195Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714367A>T | CA403643367 | C3 | c.461T>A (p.Ile154Asn) c.584T>A (p.Ile195Asn) | |
19 | g.6714368T>A | CA403643368 | C3 | c.460A>T (p.Ile154Phe) c.583A>T (p.Ile195Phe) | |
19 | g.6714368T>C | CA403643369 | C3 | c.460A>G (p.Ile154Val) c.583A>G (p.Ile195Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714368T>G | CA403643370 | C3 | c.460A>C (p.Ile154Leu) c.583A>C (p.Ile195Leu) | |
19 | g.6714368T= | CA2320568552 | C3 | c.460A= (p.Ile154=) c.583A= (p.Ile195=) | |
19 | g.6714369G>A | CA505125021 | C3 | c.459C>T (p.Asp153=) c.582C>T (p.Asp194=) | gnomAD v4 |
19 | g.6714369G>C | CA403643371 | C3 | c.459C>G (p.Asp153Glu) c.582C>G (p.Asp194Glu) | |
19 | g.6714369G>T | CA403643372 | C3 | c.459C>A (p.Asp153Glu) c.582C>A (p.Asp194Glu) | |
19 | g.6714370T>A | CA403643374 | C3 | c.458A>T (p.Asp153Val) c.581A>T (p.Asp194Val) | |
19 | g.6714370T>C | CA403643377 | C3 | c.458A>G (p.Asp153Gly) c.581A>G (p.Asp194Gly) | |
19 | g.6714370T>G | CA403643375 | C3 | c.458A>C (p.Asp153Ala) c.581A>C (p.Asp194Ala) | |
19 | g.6714371C>A | CA403643379 | C3 | c.457G>T (p.Asp153Tyr) c.580G>T (p.Asp194Tyr) | |
19 | g.6714371C>G | CA403643382 | C3 | c.457G>C (p.Asp153His) c.580G>C (p.Asp194His) | |
19 | g.6714371C>T | CA403643380 | C3 | c.457G>A (p.Asp153Asn) c.580G>A (p.Asp194Asn) | gnomAD v4 COSMIC |
19 | g.6714373dup | CA2840904896 | C3 | c.457dup (p.Asp153GlyfsTer18) c.580dup (p.Asp194GlyfsTer18) | |
19 | g.6714372C>A | CA403643383 | C3 | c.456G>T (p.Trp152Cys) c.579G>T (p.Trp193Cys) | |
19 | g.6714372C>G | CA403643386 | C3 | c.456G>C (p.Trp152Cys) c.579G>C (p.Trp193Cys) | |
19 | g.6714372C>T | CA403643384 | C3 | c.456G>A (p.Trp152Ter) c.579G>A (p.Trp193Ter) | |
19 | g.6714373C>A | CA403643388 | C3 | c.455G>T (p.Trp152Leu) c.578G>T (p.Trp193Leu) | |
19 | g.6714373C>G | CA403643390 | C3 | c.455G>C (p.Trp152Ser) c.578G>C (p.Trp193Ser) | |
19 | g.6714373C>T | CA403643391 | C3 | c.455G>A (p.Trp152Ter) c.578G>A (p.Trp193Ter) | COSMIC |
19 | g.6714374A>C | CA403643392 | C3 | c.454T>G (p.Trp152Gly) c.577T>G (p.Trp193Gly) | |
19 | g.6714374A>G | CA403643394 | C3 | c.454T>C (p.Trp152Arg) c.577T>C (p.Trp193Arg) | |
19 | g.6714374A>T | CA403643395 | C3 | c.454T>A (p.Trp152Arg) c.577T>A (p.Trp193Arg) | |
19 | g.6714375A>C | CA505125022 | C3 | c.453T>G (p.Ser151=) c.576T>G (p.Ser192=) | |
19 | g.6714375A>G | CA505125023 | C3 | c.453T>C (p.Ser151=) c.576T>C (p.Ser192=) | |
19 | g.6714375A>T | CA505125024 | C3 | c.453T>A (p.Ser151=) c.576T>A (p.Ser192=) | |
19 | g.6714376G>A | CA403643397 | C3 | c.452C>T (p.Ser151Phe) c.575C>T (p.Ser192Phe) | |
19 | g.6714376G>C | CA403643398 | C3 | c.452C>G (p.Ser151Cys) c.575C>G (p.Ser192Cys) | |
19 | g.6714376G>T | CA403643400 | C3 | c.452C>A (p.Ser151Tyr) c.575C>A (p.Ser192Tyr) | |
19 | g.6714377A>C | CA403643401 | C3 | c.451T>G (p.Ser151Ala) c.574T>G (p.Ser192Ala) | |
19 | g.6714377A>G | CA403643403 | C3 | c.451T>C (p.Ser151Pro) c.574T>C (p.Ser192Pro) | |
19 | g.6714377A>T | CA403643404 | C3 | c.451T>A (p.Ser151Thr) c.574T>A (p.Ser192Thr) | |
19 | g.6714378C>A | CA403643406 | C3 | c.450G>T (p.Leu150Phe) c.573G>T (p.Leu191Phe) | |
19 | g.6714378C>G | CA403643407 | C3 | c.450G>C (p.Leu150Phe) c.573G>C (p.Leu191Phe) | |
19 | g.6714378C>T | CA505125025 | C3 | c.450G>A (p.Leu150=) c.573G>A (p.Leu191=) | |
19 | g.6714379A>C | CA403643409 | C3 | c.449T>G (p.Leu150Trp) c.572T>G (p.Leu191Trp) | |
19 | g.6714379A>G | CA403643410 | C3 | c.449T>C (p.Leu150Ser) c.572T>C (p.Leu191Ser) | gnomAD v4 |
19 | g.6714379A>T | CA403643411 | C3 | c.449T>A (p.Leu150Ter) c.572T>A (p.Leu191Ter) | |
19 | g.6714380A>C | CA403643413 | C3 | c.448T>G (p.Leu150Val) c.571T>G (p.Leu191Val) | |
19 | g.6714380A>G | CA505125026 | C3 | c.448T>C (p.Leu150=) c.571T>C (p.Leu191=) | |
19 | g.6714380A>T | CA403643415 | C3 | c.448T>A (p.Leu150Met) c.571T>A (p.Leu191Met) | |
19 | g.6714381G>A | CA505125027 | C3 | c.447C>T (p.Pro149=) c.570C>T (p.Pro190=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714381G>C | CA505125028 | C3 | c.447C>G (p.Pro149=) c.570C>G (p.Pro190=) | |
19 | g.6714381G= | CA2320568553 | C3 | c.447C= (p.Pro149=) c.570C= (p.Pro190=) | |
19 | g.6714381G>T | CA505125029 | C3 | c.447C>A (p.Pro149=) c.570C>A (p.Pro190=) | |
19 | g.6714382G>A | CA403643416 | C3 | c.446C>T (p.Pro149Leu) c.569C>T (p.Pro190Leu) | dbSNP |
19 | g.6714382G>C | CA403643417 | C3 | c.446C>G (p.Pro149Arg) c.569C>G (p.Pro190Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714382G= | CA2320568554 | C3 | c.446C= (p.Pro149=) c.569C= (p.Pro190=) | |
19 | g.6714382G>T | CA403643419 | C3 | c.446C>A (p.Pro149His) c.569C>A (p.Pro190His) | |
19 | g.6714383G>A | CA304799106 | C3 | c.445C>T (p.Pro149Ser) c.568C>T (p.Pro190Ser) | dbSNP |
19 | g.6714383G>C | CA403643422 | C3 | c.445C>G (p.Pro149Ala) c.568C>G (p.Pro190Ala) | |
19 | g.6714383G= | CA2320568555 | C3 | c.445C= (p.Pro149=) c.568C= (p.Pro190=) | |
19 | g.6714383G>T | CA403643423 | C3 | c.445C>A (p.Pro149Thr) c.568C>A (p.Pro190Thr) | |
19 | g.6714384C>A | CA403643424 | C3 | c.444G>T (p.Leu148Phe) c.567G>T (p.Leu189Phe) | |
19 | g.6714384C>G | CA403643425 | C3 | c.444G>C (p.Leu148Phe) c.567G>C (p.Leu189Phe) | |
19 | g.6714384C>T | CA505125030 | C3 | c.444G>A (p.Leu148=) c.567G>A (p.Leu189=) | |
19 | g.6714385A>C | CA403643427 | C3 | c.443T>G (p.Leu148Trp) c.566T>G (p.Leu189Trp) | |
19 | g.6714385A>G | CA403643429 | C3 | c.443T>C (p.Leu148Ser) c.566T>C (p.Leu189Ser) | |
19 | g.6714385A>T | CA403643431 | C3 | c.443T>A (p.Leu148Ter) c.566T>A (p.Leu189Ter) | |
19 | g.6714386A>C | CA403643432 | C3 | c.442T>G (p.Leu148Val) c.565T>G (p.Leu189Val) | |
19 | g.6714386A>G | CA505125031 | C3 | c.442T>C (p.Leu148=) c.565T>C (p.Leu189=) | |
19 | g.6714386A>T | CA403643433 | C3 | c.442T>A (p.Leu148Met) c.565T>A (p.Leu189Met) | |
19 | g.6714387G>A | CA505125032 | C3 | c.441C>T (p.Val147=) c.564C>T (p.Val188=) | |
19 | g.6714387G>C | CA505125033 | C3 | c.441C>G (p.Val147=) c.564C>G (p.Val188=) | |
19 | g.6714387G>T | CA505125034 | C3 | c.441C>A (p.Val147=) c.564C>A (p.Val188=) | |
19 | g.6714388A>C | CA403643435 | C3 | c.440T>G (p.Val147Gly) c.563T>G (p.Val188Gly) | |
19 | g.6714388A>G | CA403643437 | C3 | c.440T>C (p.Val147Ala) c.563T>C (p.Val188Ala) | |
19 | g.6714388A>T | CA403643438 | C3 | c.440T>A (p.Val147Asp) c.563T>A (p.Val188Asp) | |
19 | g.6714389C>A | CA304799108 | C3 | c.439G>T (p.Val147Phe) c.562G>T (p.Val188Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714389C= | CA2320568556 | C3 | c.439G= (p.Val147=) c.562G= (p.Val188=) | |
19 | g.6714389C>G | CA403643440 | C3 | c.439G>C (p.Val147Leu) c.562G>C (p.Val188Leu) | |
19 | g.6714389C>T | CA9129776 | C3 | c.439G>A (p.Val147Ile) c.562G>A (p.Val188Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.6714390G>A | CA9129777 | C3 | c.438C>T (p.Gly146=) c.561C>T (p.Gly187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714390G>C | CA505125035 | C3 | c.438C>G (p.Gly146=) c.561C>G (p.Gly187=) | |
19 | g.6714390G= | CA2320568557 | C3 | c.438C= (p.Gly146=) c.561C= (p.Gly187=) | |
19 | g.6714390G>T | CA505125036 | C3 | c.438C>A (p.Gly146=) c.561C>A (p.Gly187=) | |
19 | g.6714391C>A | CA403643446 | C3 | c.437G>T (p.Gly146Val) c.560G>T (p.Gly187Val) | |
19 | g.6714391C>G | CA403643444 | C3 | c.437G>C (p.Gly146Ala) c.560G>C (p.Gly187Ala) | |
19 | g.6714391C>T | CA403643445 | C3 | c.437G>A (p.Gly146Asp) c.560G>A (p.Gly187Asp) | |
19 | g.6714392C>A | CA403643448 | C3 | c.436G>T (p.Gly146Cys) c.559G>T (p.Gly187Cys) | |
19 | g.6714392C>G | CA403643450 | C3 | c.436G>C (p.Gly146Arg) c.559G>C (p.Gly187Arg) | |
19 | g.6714392C>T | CA403643451 | C3 | c.436G>A (p.Gly146Ser) c.559G>A (p.Gly187Ser) | |
19 | g.6714393A>C | CA505125037 | C3 | c.435T>G (p.Leu145=) c.558T>G (p.Leu186=) | |
19 | g.6714393A>G | CA505125038 | C3 | c.435T>C (p.Leu145=) c.558T>C (p.Leu186=) | |
19 | g.6714393A>T | CA505125039 | C3 | c.435T>A (p.Leu145=) c.558T>A (p.Leu186=) | |
19 | g.6714394A= | CA2320568558 | C3 | c.434T= (p.Leu145=) c.557T= (p.Leu186=) | |
19 | g.6714394A>C | CA403643453 | C3 | c.434T>G (p.Leu145Arg) c.557T>G (p.Leu186Arg) | |
19 | g.6714394A>G | CA9129778 | C3 | c.434T>C (p.Leu145Pro) c.557T>C (p.Leu186Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714394A>T | CA403643455 | C3 | c.434T>A (p.Leu145His) c.557T>A (p.Leu186His) | |
19 | g.6714395G>A | CA403643457 | C3 | c.433C>T (p.Leu145Phe) c.556C>T (p.Leu186Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714395G>C | CA403643458 | C3 | c.433C>G (p.Leu145Val) c.556C>G (p.Leu186Val) | |
19 | g.6714395G= | CA2320568559 | C3 | c.433C= (p.Leu145=) c.556C= (p.Leu186=) | |
19 | g.6714395G>T | CA403643460 | C3 | c.433C>A (p.Leu145Ile) c.556C>A (p.Leu186Ile) | |
19 | g.6714396C>A | CA403643463 | C3 | c.432G>T (p.Gln144His) c.555G>T (p.Gln185His) | |
19 | g.6714396C>G | CA403643464 | C3 | c.432G>C (p.Gln144His) c.555G>C (p.Gln185His) | ClinVar |
19 | g.6714396C>T | CA505125040 | C3 | c.432G>A (p.Gln144=) c.555G>A (p.Gln185=) | |
19 | g.6714397T>A | CA403643467 | C3 | c.431A>T (p.Gln144Leu) c.554A>T (p.Gln185Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714397T>C | CA403643469 | C3 | c.431A>G (p.Gln144Arg) c.554A>G (p.Gln185Arg) | |
19 | g.6714397T>G | CA403643465 | C3 | c.431A>C (p.Gln144Pro) c.554A>C (p.Gln185Pro) | |
19 | g.6714397T= | CA2320568560 | C3 | c.431A= (p.Gln144=) c.554A= (p.Gln185=) | |
19 | g.6714398G>A | CA403643473 | C3 | c.430C>T (p.Gln144Ter) c.553C>T (p.Gln185Ter) | |
19 | g.6714398G>C | CA403643470 | C3 | c.430C>G (p.Gln144Glu) c.553C>G (p.Gln185Glu) | |
19 | g.6714398G>T | CA403643472 | C3 | c.430C>A (p.Gln144Lys) c.553C>A (p.Gln185Lys) | |
19 | g.6714399G>A | CA505125041 | C3 | c.429C>T (p.Asn143=) c.552C>T (p.Asn184=) | |
19 | g.6714399G>C | CA403643475 | C3 | c.429C>G (p.Asn143Lys) c.552C>G (p.Asn184Lys) | gnomAD v4 |
19 | g.6714399G>T | CA403643477 | C3 | c.429C>A (p.Asn143Lys) c.552C>A (p.Asn184Lys) |