Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15180010G>A | CA2583062667 | NOTCH3 | c.3327+62C>T (n.3327+62C>T) c.3168+62C>T (n.3168+62C>T) c.3171+62C>T (n.3171+62C>T) | gnomAD v4 |
19 | g.15180011T>A | CA2583062669 | NOTCH3 | c.3327+61A>T (n.3327+61A>T) c.3168+61A>T (n.3168+61A>T) c.3171+61A>T (n.3171+61A>T) | gnomAD v4 |
19 | g.15180011T>C | CA2576654627 | NOTCH3 | c.3327+61A>G (n.3327+61A>G) c.3168+61A>G (n.3168+61A>G) c.3171+61A>G (n.3171+61A>G) | gnomAD v4 |
19 | g.15180012G>A | CA631943785 | NOTCH3 | c.3327+60C>T (n.3327+60C>T) c.3168+60C>T (n.3168+60C>T) c.3171+60C>T (n.3171+60C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180012G= | CA2324744190 | NOTCH3 | c.3327+60C= (n.3327+60C=) c.3168+60C= (n.3168+60C=) c.3171+60C= (n.3171+60C=) | |
19 | g.15180012G>T | CA783621579 | NOTCH3 | c.3327+60C>A (n.3327+60C>A) c.3168+60C>A (n.3168+60C>A) c.3171+60C>A (n.3171+60C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180013C>A | CA2583062673 | NOTCH3 | c.3327+59G>T (n.3327+59G>T) c.3168+59G>T (n.3168+59G>T) c.3171+59G>T (n.3171+59G>T) | gnomAD v4 |
19 | g.15180013C>G | CA2838888411 | NOTCH3 | c.3327+59G>C (n.3327+59G>C) c.3168+59G>C (n.3168+59G>C) c.3171+59G>C (n.3171+59G>C) | |
19 | g.15180013C>T | CA2583062675 | NOTCH3 | c.3327+59G>A (n.3327+59G>A) c.3168+59G>A (n.3168+59G>A) c.3171+59G>A (n.3171+59G>A) | gnomAD v4 |
19 | g.15180015del | CA2583062671 | NOTCH3 | c.3327+59del (n.3327+59del) c.3168+59del (n.3168+59del) c.3171+59del (n.3171+59del) | gnomAD v4 |
19 | g.15180014_15180015del | CA2843639372 | NOTCH3 | c.3327+58_3327+59del (n.3327+58_3327+59del) c.3168+58_3168+59del (n.3168+58_3168+59del) c.3171+58_3171+59del (n.3171+58_3171+59del) | |
19 | g.15180014C>A | CA2583062677 | NOTCH3 | c.3327+58G>T (n.3327+58G>T) c.3168+58G>T (n.3168+58G>T) c.3171+58G>T (n.3171+58G>T) | gnomAD v4 |
19 | g.15180014C>G | CA2583062678 | NOTCH3 | c.3327+58G>C (n.3327+58G>C) c.3168+58G>C (n.3168+58G>C) c.3171+58G>C (n.3171+58G>C) | gnomAD v4 |
19 | g.15180014C>T | CA2583062676 | NOTCH3 | c.3327+58G>A (n.3327+58G>A) c.3168+58G>A (n.3168+58G>A) c.3171+58G>A (n.3171+58G>A) | gnomAD v4 |
19 | g.15180015C>A | CA2583062679 | NOTCH3 | c.3327+57G>T (n.3327+57G>T) c.3168+57G>T (n.3168+57G>T) c.3171+57G>T (n.3171+57G>T) | gnomAD v4 |
19 | g.15180017G>A | CA2583062681 | NOTCH3 | c.3327+55C>T (n.3327+55C>T) c.3168+55C>T (n.3168+55C>T) c.3171+55C>T (n.3171+55C>T) | gnomAD v4 |
19 | g.15180017G>C | CA657346195 | NOTCH3 | c.3327+55C>G (n.3327+55C>G) c.3168+55C>G (n.3168+55C>G) c.3171+55C>G (n.3171+55C>G) | COSMIC |
19 | g.15180017G>T | CA2576654629 | NOTCH3 | c.3327+55C>A (n.3327+55C>A) c.3168+55C>A (n.3168+55C>A) c.3171+55C>A (n.3171+55C>A) | |
19 | g.15180018A>G | CA657346198 | NOTCH3 | c.3327+54T>C (n.3327+54T>C) c.3168+54T>C (n.3168+54T>C) c.3171+54T>C (n.3171+54T>C) | COSMIC |
19 | g.15180019C>A | CA2583062682 | NOTCH3 | c.3327+53G>T (n.3327+53G>T) c.3168+53G>T (n.3168+53G>T) c.3171+53G>T (n.3171+53G>T) | gnomAD v4 |
19 | g.15180019C= | CA2324744191 | NOTCH3 | c.3327+53G= (n.3327+53G=) c.3168+53G= (n.3168+53G=) c.3171+53G= (n.3171+53G=) | |
19 | g.15180019C>T | CA305769895 | NOTCH3 | c.3327+53G>A (n.3327+53G>A) c.3168+53G>A (n.3168+53G>A) c.3171+53G>A (n.3171+53G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180020G>A | CA783621580 | NOTCH3 | c.3327+52C>T (n.3327+52C>T) c.3168+52C>T (n.3168+52C>T) c.3171+52C>T (n.3171+52C>T) | dbSNP gnomAD v4 |
19 | g.15180020G>C | CA2324744193 | NOTCH3 | c.3327+52C>G (n.3327+52C>G) c.3168+52C>G (n.3168+52C>G) c.3171+52C>G (n.3171+52C>G) | dbSNP gnomAD v4 |
19 | g.15180020G= | CA2324744192 | NOTCH3 | c.3327+52C= (n.3327+52C=) c.3168+52C= (n.3168+52C=) c.3171+52C= (n.3171+52C=) | |
19 | g.15180020G>T | CA2576654632 | NOTCH3 | c.3327+52C>A (n.3327+52C>A) c.3168+52C>A (n.3168+52C>A) c.3171+52C>A (n.3171+52C>A) | gnomAD v4 |
19 | g.15180021C>A | CA2583062683 | NOTCH3 | c.3327+51G>T (n.3327+51G>T) c.3168+51G>T (n.3168+51G>T) c.3171+51G>T (n.3171+51G>T) | gnomAD v4 |
19 | g.15180021C>T | CA2583062684 | NOTCH3 | c.3327+51G>A (n.3327+51G>A) c.3168+51G>A (n.3168+51G>A) c.3171+51G>A (n.3171+51G>A) | gnomAD v4 |
19 | g.15180022A>C | CA2576654633 | NOTCH3 | c.3327+50T>G (n.3327+50T>G) c.3168+50T>G (n.3168+50T>G) c.3171+50T>G (n.3171+50T>G) | |
19 | g.15180022A>G | CA2583062685 | NOTCH3 | c.3327+50T>C (n.3327+50T>C) c.3168+50T>C (n.3168+50T>C) c.3171+50T>C (n.3171+50T>C) | gnomAD v4 |
19 | g.15180023C>A | CA2583062688 | NOTCH3 | c.3327+49G>T (n.3327+49G>T) c.3168+49G>T (n.3168+49G>T) c.3171+49G>T (n.3171+49G>T) | gnomAD v4 |
19 | g.15180023C= | CA2324744194 | NOTCH3 | c.3327+49G= (n.3327+49G=) c.3168+49G= (n.3168+49G=) c.3171+49G= (n.3171+49G=) | |
19 | g.15180023C>G | CA9263119 | NOTCH3 | c.3327+49G>C (n.3327+49G>C) c.3168+49G>C (n.3168+49G>C) c.3171+49G>C (n.3171+49G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180023C>T | CA305769900 | NOTCH3 | c.3327+49G>A (n.3327+49G>A) c.3168+49G>A (n.3168+49G>A) c.3171+49G>A (n.3171+49G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180025del | CA2843639373 | NOTCH3 | c.3327+49del (n.3327+49del) c.3168+49del (n.3168+49del) c.3171+49del (n.3171+49del) | |
19 | g.15180024C>A | CA2583062691 | NOTCH3 | c.3327+48G>T (n.3327+48G>T) c.3168+48G>T (n.3168+48G>T) c.3171+48G>T (n.3171+48G>T) | gnomAD v4 |
19 | g.15180024C>T | CA2583062693 | NOTCH3 | c.3327+48G>A (n.3327+48G>A) c.3168+48G>A (n.3168+48G>A) c.3171+48G>A (n.3171+48G>A) | gnomAD v4 |
19 | g.15180025C>A | CA2583062696 | NOTCH3 | c.3327+47G>T (n.3327+47G>T) c.3168+47G>T (n.3168+47G>T) c.3171+47G>T (n.3171+47G>T) | gnomAD v4 |
19 | g.15180025C= | CA2324744195 | NOTCH3 | c.3327+47G= (n.3327+47G=) c.3168+47G= (n.3168+47G=) c.3171+47G= (n.3171+47G=) | |
19 | g.15180025C>G | CA305769910 | NOTCH3 | c.3327+47G>C (n.3327+47G>C) c.3168+47G>C (n.3168+47G>C) c.3171+47G>C (n.3171+47G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180027A= | CA2324744196 | NOTCH3 | c.3327+45T= (n.3327+45T=) c.3168+45T= (n.3168+45T=) c.3171+45T= (n.3171+45T=) | |
19 | g.15180027A>C | CA9263120 | NOTCH3 | c.3327+45T>G (n.3327+45T>G) c.3168+45T>G (n.3168+45T>G) c.3171+45T>G (n.3171+45T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180027A>G | CA2843639374 | NOTCH3 | c.3327+45T>C (n.3327+45T>C) c.3168+45T>C (n.3168+45T>C) c.3171+45T>C (n.3171+45T>C) | |
19 | g.15180028G>A | CA2576654635 | NOTCH3 | c.3327+44C>T (n.3327+44C>T) c.3168+44C>T (n.3168+44C>T) c.3171+44C>T (n.3171+44C>T) | dbSNP |
19 | g.15180028G>T | CA2583062700 | NOTCH3 | c.3327+44C>A (n.3327+44C>A) c.3168+44C>A (n.3168+44C>A) c.3171+44C>A (n.3171+44C>A) | gnomAD v4 |
19 | g.15180029C>A | CA2324744198 | NOTCH3 | c.3327+43G>T (n.3327+43G>T) c.3168+43G>T (n.3168+43G>T) c.3171+43G>T (n.3171+43G>T) | dbSNP gnomAD v4 |
19 | g.15180029C= | CA2324744197 | NOTCH3 | c.3327+43G= (n.3327+43G=) c.3168+43G= (n.3168+43G=) c.3171+43G= (n.3171+43G=) | |
19 | g.15180031T>A | CA2843639375 | NOTCH3 | c.3327+41A>T (n.3327+41A>T) c.3168+41A>T (n.3168+41A>T) c.3171+41A>T (n.3171+41A>T) | |
19 | g.15180031T>C | CA9263121 | NOTCH3 | c.3327+41A>G (n.3327+41A>G) c.3168+41A>G (n.3168+41A>G) c.3171+41A>G (n.3171+41A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180031T>G | CA631943789 | NOTCH3 | c.3327+41A>C (n.3327+41A>C) c.3168+41A>C (n.3168+41A>C) c.3171+41A>C (n.3171+41A>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180031T= | CA2324744199 | NOTCH3 | c.3327+41A= (n.3327+41A=) c.3168+41A= (n.3168+41A=) c.3171+41A= (n.3171+41A=) | |
19 | g.15180032G>T | CA2583062703 | NOTCH3 | c.3327+40C>A (n.3327+40C>A) c.3168+40C>A (n.3168+40C>A) c.3171+40C>A (n.3171+40C>A) | gnomAD v4 |
19 | g.15180032_15180033delinsGC | CA2324744200 | NOTCH3 | c.3327+39_3327+40delinsGC (n.3327+39_3327+40delinsGC) c.3168+39_3168+40delinsGC (n.3168+39_3168+40delinsGC) c.3171+39_3171+40delinsGC (n.3171+39_3171+40delinsGC) | |
19 | g.15180033C= | CA2324744202 | NOTCH3 | c.3327+39G= (n.3327+39G=) c.3168+39G= (n.3168+39G=) c.3171+39G= (n.3171+39G=) | |
19 | g.15180033C>T | CA631943791 | NOTCH3 | c.3327+39G>A (n.3327+39G>A) c.3168+39G>A (n.3168+39G>A) c.3171+39G>A (n.3171+39G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180035dup | CA2843639376 | NOTCH3 | c.3327+39dup (n.3327+39dup) c.3168+39dup (n.3168+39dup) c.3171+39dup (n.3171+39dup) | |
19 | g.15180035del | CA2324744201 | NOTCH3 | c.3327+39del (n.3327+39del) c.3168+39del (n.3168+39del) c.3171+39del (n.3171+39del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180034C>A | CA2583062706 | NOTCH3 | c.3327+38G>T (n.3327+38G>T) c.3168+38G>T (n.3168+38G>T) c.3171+38G>T (n.3171+38G>T) | gnomAD v4 |
19 | g.15180034C= | CA2324744203 | NOTCH3 | c.3327+38G= (n.3327+38G=) c.3168+38G= (n.3168+38G=) c.3171+38G= (n.3171+38G=) | |
19 | g.15180034C>T | CA9263122 | NOTCH3 | c.3327+38G>A (n.3327+38G>A) c.3168+38G>A (n.3168+38G>A) c.3171+38G>A (n.3171+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180035C>A | CA2843639377 | NOTCH3 | c.3327+37G>T (n.3327+37G>T) c.3168+37G>T (n.3168+37G>T) c.3171+37G>T (n.3171+37G>T) | |
19 | g.15180035C= | CA2324744204 | NOTCH3 | c.3327+37G= (n.3327+37G=) c.3168+37G= (n.3168+37G=) c.3171+37G= (n.3171+37G=) | |
19 | g.15180035C>T | CA631943795 | NOTCH3 | c.3327+37G>A (n.3327+37G>A) c.3168+37G>A (n.3168+37G>A) c.3171+37G>A (n.3171+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180036A= | CA2324744205 | NOTCH3 | c.3327+36T= (n.3327+36T=) c.3168+36T= (n.3168+36T=) c.3171+36T= (n.3171+36T=) | |
19 | g.15180036A>C | CA2843639378 | NOTCH3 | c.3327+36T>G (n.3327+36T>G) c.3168+36T>G (n.3168+36T>G) c.3171+36T>G (n.3171+36T>G) | |
19 | g.15180036A>G | CA2324744206 | NOTCH3 | c.3327+36T>C (n.3327+36T>C) c.3168+36T>C (n.3168+36T>C) c.3171+36T>C (n.3171+36T>C) | dbSNP gnomAD v4 |
19 | g.15180036A>T | CA2735671481 | NOTCH3 | c.3327+36T>A (n.3327+36T>A) c.3168+36T>A (n.3168+36T>A) c.3171+36T>A (n.3171+36T>A) | dbSNP |
19 | g.15180037C>A | CA9263123 | NOTCH3 | c.3327+35G>T (n.3327+35G>T) c.3168+35G>T (n.3168+35G>T) c.3171+35G>T (n.3171+35G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180037C= | CA2324744207 | NOTCH3 | c.3327+35G= (n.3327+35G=) c.3168+35G= (n.3168+35G=) c.3171+35G= (n.3171+35G=) | |
19 | g.15180037C>T | CA9263124 | NOTCH3 | c.3327+35G>A (n.3327+35G>A) c.3168+35G>A (n.3168+35G>A) c.3171+35G>A (n.3171+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180038C>T | CA2583062711 | NOTCH3 | c.3327+34G>A (n.3327+34G>A) c.3168+34G>A (n.3168+34G>A) c.3171+34G>A (n.3171+34G>A) | gnomAD v4 |
19 | g.15180040C= | CA2324744208 | NOTCH3 | c.3327+32G= (n.3327+32G=) c.3168+32G= (n.3168+32G=) c.3171+32G= (n.3171+32G=) | |
19 | g.15180040C>T | CA631943797 | NOTCH3 | c.3327+32G>A (n.3327+32G>A) c.3168+32G>A (n.3168+32G>A) c.3171+32G>A (n.3171+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180041C>T | CA2583062714 | NOTCH3 | c.3327+31G>A (n.3327+31G>A) c.3168+31G>A (n.3168+31G>A) c.3171+31G>A (n.3171+31G>A) | gnomAD v4 |
19 | g.15180043C>T | CA2583062716 | NOTCH3 | c.3327+29G>A (n.3327+29G>A) c.3168+29G>A (n.3168+29G>A) c.3171+29G>A (n.3171+29G>A) | gnomAD v4 |
19 | g.15180046C>A | CA2735795008 | NOTCH3 | c.3327+26G>T (n.3327+26G>T) c.3168+26G>T (n.3168+26G>T) c.3171+26G>T (n.3171+26G>T) | dbSNP |
19 | g.15180046C>T | CA2576654637 | NOTCH3 | c.3327+26G>A (n.3327+26G>A) c.3168+26G>A (n.3168+26G>A) c.3171+26G>A (n.3171+26G>A) | |
19 | g.15180047C>T | CA2583062718 | NOTCH3 | c.3327+25G>A (n.3327+25G>A) c.3168+25G>A (n.3168+25G>A) c.3171+25G>A (n.3171+25G>A) | gnomAD v4 |
19 | g.15180048C>A | CA2839692441 | NOTCH3 | c.3327+24G>T (n.3327+24G>T) c.3168+24G>T (n.3168+24G>T) c.3171+24G>T (n.3171+24G>T) | |
19 | g.15180048C= | CA2324744209 | NOTCH3 | c.3327+24G= (n.3327+24G=) c.3168+24G= (n.3168+24G=) c.3171+24G= (n.3171+24G=) | |
19 | g.15180048C>G | CA9263125 | NOTCH3 | c.3327+24G>C (n.3327+24G>C) c.3168+24G>C (n.3168+24G>C) c.3171+24G>C (n.3171+24G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180048C>T | CA2583062726 | NOTCH3 | c.3327+24G>A (n.3327+24G>A) c.3168+24G>A (n.3168+24G>A) c.3171+24G>A (n.3171+24G>A) | gnomAD v4 |
19 | g.15180049T>C | CA2583062729 | NOTCH3 | c.3327+23A>G (n.3327+23A>G) c.3168+23A>G (n.3168+23A>G) c.3171+23A>G (n.3171+23A>G) | gnomAD v4 |
19 | g.15180050C= | CA2324744211 | NOTCH3 | c.3327+22G= (n.3327+22G=) c.3168+22G= (n.3168+22G=) c.3171+22G= (n.3171+22G=) | |
19 | g.15180050C>G | CA631943806 | NOTCH3 | c.3327+22G>C (n.3327+22G>C) c.3168+22G>C (n.3168+22G>C) c.3171+22G>C (n.3171+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180050C>T | CA9263127 | NOTCH3 | c.3327+22G>A (n.3327+22G>A) c.3168+22G>A (n.3168+22G>A) c.3171+22G>A (n.3171+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180050_15180051delinsCT | CA2324744210 | NOTCH3 | c.3327+21_3327+22delinsAG (n.3327+21_3327+22delinsAG) c.3168+21_3168+22delinsAG (n.3168+21_3168+22delinsAG) c.3171+21_3171+22delinsAG (n.3171+21_3171+22delinsAG) | |
19 | g.15180051del | CA9263126 | NOTCH3 | c.3327+21del (n.3327+21del) c.3168+21del (n.3168+21del) c.3171+21del (n.3171+21del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180052C>G | CA2583062735 | NOTCH3 | c.3327+20G>C (n.3327+20G>C) c.3168+20G>C (n.3168+20G>C) c.3171+20G>C (n.3171+20G>C) | gnomAD v4 |
19 | g.15180053C>A | CA2583062739 | NOTCH3 | c.3327+19G>T (n.3327+19G>T) c.3168+19G>T (n.3168+19G>T) c.3171+19G>T (n.3171+19G>T) | gnomAD v4 |
19 | g.15180053C= | CA2324744212 | NOTCH3 | c.3327+19G= (n.3327+19G=) c.3168+19G= (n.3168+19G=) c.3171+19G= (n.3171+19G=) | |
19 | g.15180053C>G | CA783621581 | NOTCH3 | c.3327+19G>C (n.3327+19G>C) c.3168+19G>C (n.3168+19G>C) c.3171+19G>C (n.3171+19G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180053C>T | CA2583062737 | NOTCH3 | c.3327+19G>A (n.3327+19G>A) c.3168+19G>A (n.3168+19G>A) c.3171+19G>A (n.3171+19G>A) | gnomAD v4 |
19 | g.15180054T>C | CA2583062742 | NOTCH3 | c.3327+18A>G (n.3327+18A>G) c.3168+18A>G (n.3168+18A>G) c.3171+18A>G (n.3171+18A>G) | gnomAD v4 |
19 | g.15180055G>A | CA2583062743 | NOTCH3 | c.3327+17C>T (n.3327+17C>T) c.3168+17C>T (n.3168+17C>T) c.3171+17C>T (n.3171+17C>T) | gnomAD v4 |
19 | g.15180055G>C | CA2741615197 | NOTCH3 | c.3327+17C>G (n.3327+17C>G) c.3168+17C>G (n.3168+17C>G) c.3171+17C>G (n.3171+17C>G) | |
19 | g.15180055G>T | CA2583062744 | NOTCH3 | c.3327+17C>A (n.3327+17C>A) c.3168+17C>A (n.3168+17C>A) c.3171+17C>A (n.3171+17C>A) | gnomAD v4 |
19 | g.15180058del | CA2576654638 | NOTCH3 | c.3327+17del (n.3327+17del) c.3168+17del (n.3168+17del) c.3171+17del (n.3171+17del) | gnomAD v4 |
19 | g.15180056G= | CA2324744213 | NOTCH3 | c.3327+16C= (n.3327+16C=) c.3168+16C= (n.3168+16C=) c.3171+16C= (n.3171+16C=) | |
19 | g.15180056G>T | CA783621582 | NOTCH3 | c.3327+16C>A (n.3327+16C>A) c.3168+16C>A (n.3168+16C>A) c.3171+16C>A (n.3171+16C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180057G>A | CA2583062749 | NOTCH3 | c.3327+15C>T (n.3327+15C>T) c.3168+15C>T (n.3168+15C>T) c.3171+15C>T (n.3171+15C>T) | gnomAD v4 |
19 | g.15180057G>C | CA631943814 | NOTCH3 | c.3327+15C>G (n.3327+15C>G) c.3168+15C>G (n.3168+15C>G) c.3171+15C>G (n.3171+15C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180057G= | CA2324744214 | NOTCH3 | c.3327+15C= (n.3327+15C=) c.3168+15C= (n.3168+15C=) c.3171+15C= (n.3171+15C=) | |
19 | g.15180058G= | CA2324744215 | NOTCH3 | c.3327+14C= (n.3327+14C=) c.3168+14C= (n.3168+14C=) c.3171+14C= (n.3171+14C=) | |
19 | g.15180058G>T | CA2324744216 | NOTCH3 | c.3327+14C>A (n.3327+14C>A) c.3168+14C>A (n.3168+14C>A) c.3171+14C>A (n.3171+14C>A) | dbSNP |
19 | g.15180059A>T | CA2735795010 | NOTCH3 | c.3327+13T>A (n.3327+13T>A) c.3168+13T>A (n.3168+13T>A) c.3171+13T>A (n.3171+13T>A) | dbSNP |
19 | g.15180060G>A | CA2576654639 | NOTCH3 | c.3327+12C>T (n.3327+12C>T) c.3168+12C>T (n.3168+12C>T) c.3171+12C>T (n.3171+12C>T) | |
19 | g.15180060G= | CA2324744217 | NOTCH3 | c.3327+12C= (n.3327+12C=) c.3168+12C= (n.3168+12C=) c.3171+12C= (n.3171+12C=) | |
19 | g.15180060G>T | CA631943818 | NOTCH3 | c.3327+12C>A (n.3327+12C>A) c.3168+12C>A (n.3168+12C>A) c.3171+12C>A (n.3171+12C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180061C= | CA2324744218 | NOTCH3 | c.3327+11G= (n.3327+11G=) c.3168+11G= (n.3168+11G=) c.3171+11G= (n.3171+11G=) | |
19 | g.15180061C>G | CA2581974277 | NOTCH3 | c.3327+11G>C (n.3327+11G>C) c.3168+11G>C (n.3168+11G>C) c.3171+11G>C (n.3171+11G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180061C>T | CA9263128 | NOTCH3 | c.3327+11G>A (n.3327+11G>A) c.3168+11G>A (n.3168+11G>A) c.3171+11G>A (n.3171+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180062G>A | CA9263129 | NOTCH3 | c.3327+10C>T (n.3327+10C>T) c.3168+10C>T (n.3168+10C>T) c.3171+10C>T (n.3171+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180062G>C | CA2735622791 | NOTCH3 | c.3327+10C>G (n.3327+10C>G) c.3168+10C>G (n.3168+10C>G) c.3171+10C>G (n.3171+10C>G) | dbSNP |
19 | g.15180062G= | CA2324744219 | NOTCH3 | c.3327+10C= (n.3327+10C=) c.3168+10C= (n.3168+10C=) c.3171+10C= (n.3171+10C=) | |
19 | g.15180062G>T | CA2583062762 | NOTCH3 | c.3327+10C>A (n.3327+10C>A) c.3168+10C>A (n.3168+10C>A) c.3171+10C>A (n.3171+10C>A) | gnomAD v4 |
19 | g.15180063C>T | CA2576654642 | NOTCH3 | c.3327+9G>A (n.3327+9G>A) c.3168+9G>A (n.3168+9G>A) c.3171+9G>A (n.3171+9G>A) | |
19 | g.15180067dup | CA2832577957 | NOTCH3 | c.3327+9dup (n.3327+9dup) c.3168+9dup (n.3168+9dup) c.3171+9dup (n.3171+9dup) | |
19 | g.15180067del | CA2576654641 | NOTCH3 | c.3327+9del (n.3327+9del) c.3168+9del (n.3168+9del) c.3171+9del (n.3171+9del) | gnomAD v4 |
19 | g.15180064C>T | CA2741615198 | NOTCH3 | c.3327+8G>A (n.3327+8G>A) c.3168+8G>A (n.3168+8G>A) c.3171+8G>A (n.3171+8G>A) | |
19 | g.15180065C>A | CA2583062770 | NOTCH3 | c.3327+7G>T (n.3327+7G>T) c.3168+7G>T (n.3168+7G>T) c.3171+7G>T (n.3171+7G>T) | gnomAD v4 |
19 | g.15180065C= | CA2324744220 | NOTCH3 | c.3327+7G= (n.3327+7G=) c.3168+7G= (n.3168+7G=) c.3171+7G= (n.3171+7G=) | |
19 | g.15180065C>G | CA9263130 | NOTCH3 | c.3327+7G>C (n.3327+7G>C) c.3168+7G>C (n.3168+7G>C) c.3171+7G>C (n.3171+7G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180065C>T | CA2583062768 | NOTCH3 | c.3327+7G>A (n.3327+7G>A) c.3168+7G>A (n.3168+7G>A) c.3171+7G>A (n.3171+7G>A) | gnomAD v4 |
19 | g.15180066C>A | CA2843639379 | NOTCH3 | c.3327+6G>T (n.3327+6G>T) c.3168+6G>T (n.3168+6G>T) c.3171+6G>T (n.3171+6G>T) | |
19 | g.15180066C= | CA2324744221 | NOTCH3 | c.3327+6G= (n.3327+6G=) c.3168+6G= (n.3168+6G=) c.3171+6G= (n.3171+6G=) | |
19 | g.15180066C>G | CA305769919 | NOTCH3 | c.3327+6G>C (n.3327+6G>C) c.3168+6G>C (n.3168+6G>C) c.3171+6G>C (n.3171+6G>C) | dbSNP gnomAD v4 |
19 | g.15180067C>T | CA2813714770 | NOTCH3 | c.3327+5G>A (n.3327+5G>A) c.3168+5G>A (n.3168+5G>A) c.3171+5G>A (n.3171+5G>A) | |
19 | g.15180070A>C | CA404512788 | NOTCH3 | c.3327+2T>G (n.3327+2T>G) c.3168+2T>G (n.3168+2T>G) c.3171+2T>G (n.3171+2T>G) | gnomAD v4 |
19 | g.15180070A>G | CA404512786 | NOTCH3 | c.3327+2T>C (n.3327+2T>C) c.3168+2T>C (n.3168+2T>C) c.3171+2T>C (n.3171+2T>C) | |
19 | g.15180070A>T | CA404512790 | NOTCH3 | c.3327+2T>A (n.3327+2T>A) c.3168+2T>A (n.3168+2T>A) c.3171+2T>A (n.3171+2T>A) | |
19 | g.15180071C>A | CA404512792 | NOTCH3 | c.3327+1G>T (n.3327+1G>T) c.3168+1G>T (n.3168+1G>T) c.3171+1G>T (n.3171+1G>T) | |
19 | g.15180071C>G | CA404512811 | NOTCH3 | c.3327+1G>C (n.3327+1G>C) c.3168+1G>C (n.3168+1G>C) c.3171+1G>C (n.3171+1G>C) | |
19 | g.15180071C>T | CA404512795 | NOTCH3 | c.3327+1G>A (n.3327+1G>A) c.3168+1G>A (n.3168+1G>A) c.3171+1G>A (n.3171+1G>A) | gnomAD v4 |
19 | g.15180072C>A | CA404512814 | NOTCH3 | c.3327G>T (p.Glu1109Asp) c.3168G>T (p.Glu1056Asp) c.3171G>T (p.Glu1057Asp) | |
19 | g.15180072C>G | CA404512817 | NOTCH3 | c.3327G>C (p.Glu1109Asp) c.3168G>C (p.Glu1056Asp) c.3171G>C (p.Glu1057Asp) | |
19 | g.15180072C>T | CA505823480 | NOTCH3 | c.3327G>A (p.Glu1109=) c.3168G>A (p.Glu1056=) c.3171G>A (p.Glu1057=) | gnomAD v4 |
19 | g.15180073T>A | CA404512820 | NOTCH3 | c.3326A>T (p.Glu1109Val) c.3167A>T (p.Glu1056Val) c.3170A>T (p.Glu1057Val) | |
19 | g.15180073T>C | CA404512823 | NOTCH3 | c.3326A>G (p.Glu1109Gly) c.3167A>G (p.Glu1056Gly) c.3170A>G (p.Glu1057Gly) | dbSNP |
19 | g.15180073T>G | CA404512826 | NOTCH3 | c.3326A>C (p.Glu1109Ala) c.3167A>C (p.Glu1056Ala) c.3170A>C (p.Glu1057Ala) | |
19 | g.15180074C>A | CA404512831 | NOTCH3 | c.3325G>T (p.Glu1109Ter) c.3166G>T (p.Glu1056Ter) c.3169G>T (p.Glu1057Ter) | |
19 | g.15180074C>G | CA404512833 | NOTCH3 | c.3325G>C (p.Glu1109Gln) c.3166G>C (p.Glu1056Gln) c.3169G>C (p.Glu1057Gln) | |
19 | g.15180074C>T | CA404512836 | NOTCH3 | c.3325G>A (p.Glu1109Lys) c.3166G>A (p.Glu1056Lys) c.3169G>A (p.Glu1057Lys) | |
19 | g.15180075A>C | CA404512839 | NOTCH3 | c.3324T>G (p.Cys1108Trp) c.3165T>G (p.Cys1055Trp) c.3168T>G (p.Cys1056Trp) | |
19 | g.15180075A>G | CA505823495 | NOTCH3 | c.3324T>C (p.Cys1108=) c.3165T>C (p.Cys1055=) c.3168T>C (p.Cys1056=) | |
19 | g.15180075A>T | CA404512840 | NOTCH3 | c.3324T>A (p.Cys1108Ter) c.3165T>A (p.Cys1055Ter) c.3168T>A (p.Cys1056Ter) | gnomAD v4 |
19 | g.15180076C>A | CA404512844 | NOTCH3 | c.3323G>T (p.Cys1108Phe) c.3164G>T (p.Cys1055Phe) c.3167G>T (p.Cys1056Phe) | |
19 | g.15180076C>G | CA404512846 | NOTCH3 | c.3323G>C (p.Cys1108Ser) c.3164G>C (p.Cys1055Ser) c.3167G>C (p.Cys1056Ser) | |
19 | g.15180076C>T | CA404512849 | NOTCH3 | c.3323G>A (p.Cys1108Tyr) c.3164G>A (p.Cys1055Tyr) c.3167G>A (p.Cys1056Tyr) | |
19 | g.15180077A>C | CA404512852 | NOTCH3 | c.3322T>G (p.Cys1108Gly) c.3163T>G (p.Cys1055Gly) c.3166T>G (p.Cys1056Gly) | |
19 | g.15180077A>G | CA404512856 | NOTCH3 | c.3322T>C (p.Cys1108Arg) c.3163T>C (p.Cys1055Arg) c.3166T>C (p.Cys1056Arg) | gnomAD v4 |
19 | g.15180077A>T | CA404512854 | NOTCH3 | c.3322T>A (p.Cys1108Ser) c.3163T>A (p.Cys1055Ser) c.3166T>A (p.Cys1056Ser) | |
19 | g.15180078C>A | CA9263131 | NOTCH3 | c.3321G>T (p.Met1107Ile) c.3162G>T (p.Met1054Ile) c.3165G>T (p.Met1055Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180078C= | CA2324744222 | NOTCH3 | c.3321G= (p.Met1107=) c.3162G= (p.Met1054=) c.3165G= (p.Met1055=) | |
19 | g.15180078C>G | CA404512862 | NOTCH3 | c.3321G>C (p.Met1107Ile) c.3162G>C (p.Met1054Ile) c.3165G>C (p.Met1055Ile) | |
19 | g.15180078C>T | CA404512867 | NOTCH3 | c.3321G>A (p.Met1107Ile) c.3162G>A (p.Met1054Ile) c.3165G>A (p.Met1055Ile) | |
19 | g.15180079A= | CA2324744223 | NOTCH3 | c.3320T= (p.Met1107=) c.3161T= (p.Met1054=) c.3164T= (p.Met1055=) | |
19 | g.15180079A>C | CA404512873 | NOTCH3 | c.3320T>G (p.Met1107Arg) c.3161T>G (p.Met1054Arg) c.3164T>G (p.Met1055Arg) | dbSNP |
19 | g.15180079A>G | CA404512877 | NOTCH3 | c.3320T>C (p.Met1107Thr) c.3161T>C (p.Met1054Thr) c.3164T>C (p.Met1055Thr) | dbSNP |
19 | g.15180079A>T | CA404512879 | NOTCH3 | c.3320T>A (p.Met1107Lys) c.3161T>A (p.Met1054Lys) c.3164T>A (p.Met1055Lys) | |
19 | g.15180080T>A | CA404512881 | NOTCH3 | c.3319A>T (p.Met1107Leu) c.3160A>T (p.Met1054Leu) c.3163A>T (p.Met1055Leu) | |
19 | g.15180080T>C | CA404512884 | NOTCH3 | c.3319A>G (p.Met1107Val) c.3160A>G (p.Met1054Val) c.3163A>G (p.Met1055Val) | |
19 | g.15180080T>G | CA404512887 | NOTCH3 | c.3319A>C (p.Met1107Leu) c.3160A>C (p.Met1054Leu) c.3163A>C (p.Met1055Leu) | gnomAD v4 |
19 | g.15180081G>A | CA305769920 | NOTCH3 | c.3318C>T (p.Tyr1106=) c.3159C>T (p.Tyr1053=) c.3162C>T (p.Tyr1054=) | ClinVar dbSNP gnomAD v4 |
19 | g.15180081G>C | CA404512896 | NOTCH3 | c.3318C>G (p.Tyr1106Ter) c.3159C>G (p.Tyr1053Ter) c.3162C>G (p.Tyr1054Ter) | |
19 | g.15180081G= | CA2324744224 | NOTCH3 | c.3318C= (p.Tyr1106=) c.3159C= (p.Tyr1053=) c.3162C= (p.Tyr1054=) | |
19 | g.15180081G>T | CA404512892 | NOTCH3 | c.3318C>A (p.Tyr1106Ter) c.3159C>A (p.Tyr1053Ter) c.3162C>A (p.Tyr1054Ter) | |
19 | g.15180082T>A | CA404512902 | NOTCH3 | c.3317A>T (p.Tyr1106Phe) c.3158A>T (p.Tyr1053Phe) c.3161A>T (p.Tyr1054Phe) | dbSNP |
19 | g.15180082T>C | CA404512905 | NOTCH3 | c.3317A>G (p.Tyr1106Cys) c.3158A>G (p.Tyr1053Cys) c.3161A>G (p.Tyr1054Cys) | |
19 | g.15180082T>G | CA404512907 | NOTCH3 | c.3317A>C (p.Tyr1106Ser) c.3158A>C (p.Tyr1053Ser) c.3161A>C (p.Tyr1054Ser) | |
19 | g.15180083del | CA2576654643 | NOTCH3 | c.3316del (p.Tyr1106ThrfsTer?) c.3157del (p.Tyr1053ThrfsTer?) c.3160del (p.Tyr1054ThrfsTer?) | |
19 | g.15180083A= | CA2324744225 | NOTCH3 | c.3316T= (p.Tyr1106=) c.3157T= (p.Tyr1053=) c.3160T= (p.Tyr1054=) | |
19 | g.15180083A>C | CA404512910 | NOTCH3 | c.3316T>G (p.Tyr1106Asp) c.3157T>G (p.Tyr1053Asp) c.3160T>G (p.Tyr1054Asp) | |
19 | g.15180083A>G | CA9263132 | NOTCH3 | c.3316T>C (p.Tyr1106His) c.3157T>C (p.Tyr1053His) c.3160T>C (p.Tyr1054His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180083A>T | CA404512915 | NOTCH3 | c.3316T>A (p.Tyr1106Asn) c.3157T>A (p.Tyr1053Asn) c.3160T>A (p.Tyr1054Asn) | |
19 | g.15180084G>A | CA505824169 | NOTCH3 | c.3315C>T (p.Gly1105=) c.3156C>T (p.Gly1052=) c.3159C>T (p.Gly1053=) | gnomAD v4 |
19 | g.15180084G>C | CA505824170 | NOTCH3 | c.3315C>G (p.Gly1105=) c.3156C>G (p.Gly1052=) c.3159C>G (p.Gly1053=) | |
19 | g.15180084G>T | CA505824172 | NOTCH3 | c.3315C>A (p.Gly1105=) c.3156C>A (p.Gly1052=) c.3159C>A (p.Gly1053=) | |
19 | g.15180084_15180085delinsGC | CA2324744226 | NOTCH3 | c.3314_3315delinsGC (p.Gly1105=) c.3155_3156delinsGC (p.Gly1052=) c.3158_3159delinsGC (p.Gly1053=) | |
19 | g.15180085C>A | CA404512918 | NOTCH3 | c.3314G>T (p.Gly1105Val) c.3155G>T (p.Gly1052Val) c.3158G>T (p.Gly1053Val) | |
19 | g.15180085C= | CA2324744227 | NOTCH3 | c.3314G= (p.Gly1105=) c.3155G= (p.Gly1052=) c.3158G= (p.Gly1053=) | |
19 | g.15180085C>G | CA9263133 | NOTCH3 | c.3314G>C (p.Gly1105Ala) c.3155G>C (p.Gly1052Ala) c.3158G>C (p.Gly1053Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180085C>T | CA404512921 | NOTCH3 | c.3314G>A (p.Gly1105Asp) c.3155G>A (p.Gly1052Asp) c.3158G>A (p.Gly1053Asp) | dbSNP |
19 | g.15180090dup | CA2583062771 | NOTCH3 | c.3314dup (p.Tyr1106LeufsTer4) c.3155dup (p.Tyr1053LeufsTer4) c.3158dup (p.Tyr1054LeufsTer4) | gnomAD v4 |
19 | g.15180090del | CA645600796 | NOTCH3 | c.3314del (p.Gly1105AlafsTer?) c.3155del (p.Gly1052AlafsTer?) c.3158del (p.Gly1053AlafsTer?) | dbSNP COSMIC COSMIC |
19 | g.15180089_15180090del | CA2838888414 | NOTCH3 | c.3313_3314del (p.Gly1105LeufsTer4) c.3154_3155del (p.Gly1052LeufsTer4) c.3157_3158del (p.Gly1053LeufsTer4) | |
19 | g.15180086C>A | CA404512926 | NOTCH3 | c.3313G>T (p.Gly1105Cys) c.3154G>T (p.Gly1052Cys) c.3157G>T (p.Gly1053Cys) | |
19 | g.15180086C= | CA2324744228 | NOTCH3 | c.3313G= (p.Gly1105=) c.3154G= (p.Gly1052=) c.3157G= (p.Gly1053=) | |
19 | g.15180086C>G | CA404512927 | NOTCH3 | c.3313G>C (p.Gly1105Arg) c.3154G>C (p.Gly1052Arg) c.3157G>C (p.Gly1053Arg) | |
19 | g.15180086C>T | CA404512928 | NOTCH3 | c.3313G>A (p.Gly1105Ser) c.3154G>A (p.Gly1052Ser) c.3157G>A (p.Gly1053Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180087C>A | CA505824178 | NOTCH3 | c.3312G>T (p.Gly1104=) c.3153G>T (p.Gly1051=) c.3156G>T (p.Gly1052=) | |
19 | g.15180087C= | CA2324744229 | NOTCH3 | c.3312G= (p.Gly1104=) c.3153G= (p.Gly1051=) c.3156G= (p.Gly1052=) | |
19 | g.15180087C>G | CA505824179 | NOTCH3 | c.3312G>C (p.Gly1104=) c.3153G>C (p.Gly1051=) c.3156G>C (p.Gly1052=) | |
19 | g.15180087C>T | CA505824180 | NOTCH3 | c.3312G>A (p.Gly1104=) c.3153G>A (p.Gly1051=) c.3156G>A (p.Gly1052=) | dbSNP gnomAD v4 |
19 | g.15180088C>A | CA404512934 | NOTCH3 | c.3311G>T (p.Gly1104Val) c.3152G>T (p.Gly1051Val) c.3155G>T (p.Gly1052Val) | |
19 | g.15180088C= | CA2324744230 | NOTCH3 | c.3311G= (p.Gly1104=) c.3152G= (p.Gly1051=) c.3155G= (p.Gly1052=) | |
19 | g.15180088C>G | CA404512929 | NOTCH3 | c.3311G>C (p.Gly1104Ala) c.3152G>C (p.Gly1051Ala) c.3155G>C (p.Gly1052Ala) | |
19 | g.15180088C>T | CA9263134 | NOTCH3 | c.3311G>A (p.Gly1104Glu) c.3152G>A (p.Gly1051Glu) c.3155G>A (p.Gly1052Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180089C>A | CA404512939 | NOTCH3 | c.3310G>T (p.Gly1104Trp) c.3151G>T (p.Gly1051Trp) c.3154G>T (p.Gly1052Trp) | COSMIC |
19 | g.15180089C>G | CA404512941 | NOTCH3 | c.3310G>C (p.Gly1104Arg) c.3151G>C (p.Gly1051Arg) c.3154G>C (p.Gly1052Arg) | |
19 | g.15180089C>T | CA404512950 | NOTCH3 | c.3310G>A (p.Gly1104Arg) c.3151G>A (p.Gly1051Arg) c.3154G>A (p.Gly1052Arg) | |
19 | g.15180090C>A | CA404512953 | NOTCH3 | c.3309G>T (p.Met1103Ile) c.3150G>T (p.Met1050Ile) c.3153G>T (p.Met1051Ile) | COSMIC COSMIC |
19 | g.15180090C= | CA2324744231 | NOTCH3 | c.3309G= (p.Met1103=) c.3150G= (p.Met1050=) c.3153G= (p.Met1051=) | |
19 | g.15180090C>G | CA404512957 | NOTCH3 | c.3309G>C (p.Met1103Ile) c.3150G>C (p.Met1050Ile) c.3153G>C (p.Met1051Ile) | |
19 | g.15180090C>T | CA404512961 | NOTCH3 | c.3309G>A (p.Met1103Ile) c.3150G>A (p.Met1050Ile) c.3153G>A (p.Met1051Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.15180091A= | CA2324744232 | NOTCH3 | c.3308T= (p.Met1103=) c.3149T= (p.Met1050=) c.3152T= (p.Met1051=) | |
19 | g.15180091A>C | CA404512964 | NOTCH3 | c.3308T>G (p.Met1103Arg) c.3149T>G (p.Met1050Arg) c.3152T>G (p.Met1051Arg) | |
19 | g.15180091A>G | CA9263135 | NOTCH3 | c.3308T>C (p.Met1103Thr) c.3149T>C (p.Met1050Thr) c.3152T>C (p.Met1051Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180091A>T | CA404512968 | NOTCH3 | c.3308T>A (p.Met1103Lys) c.3149T>A (p.Met1050Lys) c.3152T>A (p.Met1051Lys) | |
19 | g.15180092T>A | CA404512973 | NOTCH3 | c.3307A>T (p.Met1103Leu) c.3148A>T (p.Met1050Leu) c.3151A>T (p.Met1051Leu) | dbSNP |
19 | g.15180092T>C | CA9263136 | NOTCH3 | c.3307A>G (p.Met1103Val) c.3148A>G (p.Met1050Val) c.3151A>G (p.Met1051Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180092T>G | CA404512976 | NOTCH3 | c.3307A>C (p.Met1103Leu) c.3148A>C (p.Met1050Leu) c.3151A>C (p.Met1051Leu) | |
19 | g.15180092T= | CA2324744233 | NOTCH3 | c.3307A= (p.Met1103=) c.3148A= (p.Met1050=) c.3151A= (p.Met1051=) | |
19 | g.15180093A>C | CA404512978 | NOTCH3 | c.3306T>G (p.Tyr1102Ter) c.3147T>G (p.Tyr1049Ter) c.3150T>G (p.Tyr1050Ter) | |
19 | g.15180093A>G | CA505824183 | NOTCH3 | c.3306T>C (p.Tyr1102=) c.3147T>C (p.Tyr1049=) c.3150T>C (p.Tyr1050=) | |
19 | g.15180093A>T | CA404512979 | NOTCH3 | c.3306T>A (p.Tyr1102Ter) c.3147T>A (p.Tyr1049Ter) c.3150T>A (p.Tyr1050Ter) | |
19 | g.15180094T>A | CA9263137 | NOTCH3 | c.3305A>T (p.Tyr1102Phe) c.3146A>T (p.Tyr1049Phe) c.3149A>T (p.Tyr1050Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180094T>C | CA404512986 | NOTCH3 | c.3305A>G (p.Tyr1102Cys) c.3146A>G (p.Tyr1049Cys) c.3149A>G (p.Tyr1050Cys) | gnomAD v4 |
19 | g.15180094T>G | CA404512982 | NOTCH3 | c.3305A>C (p.Tyr1102Ser) c.3146A>C (p.Tyr1049Ser) c.3149A>C (p.Tyr1050Ser) | |
19 | g.15180094T= | CA2324744234 | NOTCH3 | c.3305A= (p.Tyr1102=) c.3146A= (p.Tyr1049=) c.3149A= (p.Tyr1050=) | |
19 | g.15180095A>C | CA404512989 | NOTCH3 | c.3304T>G (p.Tyr1102Asp) c.3145T>G (p.Tyr1049Asp) c.3148T>G (p.Tyr1050Asp) | |
19 | g.15180095A>G | CA404512992 | NOTCH3 | c.3304T>C (p.Tyr1102His) c.3145T>C (p.Tyr1049His) c.3148T>C (p.Tyr1050His) | gnomAD v4 |
19 | g.15180095A>T | CA404512993 | NOTCH3 | c.3304T>A (p.Tyr1102Asn) c.3145T>A (p.Tyr1049Asn) c.3148T>A (p.Tyr1050Asn) | dbSNP |
19 | g.15180096G>A | CA505824191 | NOTCH3 | c.3303C>T (p.Gly1101=) c.3144C>T (p.Gly1048=) c.3147C>T (p.Gly1049=) | |
19 | g.15180096G>C | CA505824192 | NOTCH3 | c.3303C>G (p.Gly1101=) c.3144C>G (p.Gly1048=) c.3147C>G (p.Gly1049=) | gnomAD v4 |
19 | g.15180096G>T | CA505824194 | NOTCH3 | c.3303C>A (p.Gly1101=) c.3144C>A (p.Gly1048=) c.3147C>A (p.Gly1049=) | |
19 | g.15180097C>A | CA404512998 | NOTCH3 | c.3302G>T (p.Gly1101Val) c.3143G>T (p.Gly1048Val) c.3146G>T (p.Gly1049Val) | |
19 | g.15180097C>G | CA404513000 | NOTCH3 | c.3302G>C (p.Gly1101Ala) c.3143G>C (p.Gly1048Ala) c.3146G>C (p.Gly1049Ala) | |
19 | g.15180097C>T | CA404513001 | NOTCH3 | c.3302G>A (p.Gly1101Asp) c.3143G>A (p.Gly1048Asp) c.3146G>A (p.Gly1049Asp) | dbSNP gnomAD v4 |
19 | g.15180098C>A | CA404513002 | NOTCH3 | c.3301G>T (p.Gly1101Cys) c.3142G>T (p.Gly1048Cys) c.3145G>T (p.Gly1049Cys) | gnomAD v4 |
19 | g.15180098C= | CA2324744235 | NOTCH3 | c.3301G= (p.Gly1101=) c.3142G= (p.Gly1048=) c.3145G= (p.Gly1049=) | |
19 | g.15180098C>G | CA404513003 | NOTCH3 | c.3301G>C (p.Gly1101Arg) c.3142G>C (p.Gly1048Arg) c.3145G>C (p.Gly1049Arg) | |
19 | g.15180098C>T | CA404513005 | NOTCH3 | c.3301G>A (p.Gly1101Ser) c.3142G>A (p.Gly1048Ser) c.3145G>A (p.Gly1049Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180099A>C | CA505824201 | NOTCH3 | c.3300T>G (p.Arg1100=) c.3141T>G (p.Arg1047=) c.3144T>G (p.Arg1048=) | |
19 | g.15180099A>G | CA505824199 | NOTCH3 | c.3300T>C (p.Arg1100=) c.3141T>C (p.Arg1047=) c.3144T>C (p.Arg1048=) | |
19 | g.15180099A>T | CA505824204 | NOTCH3 | c.3300T>A (p.Arg1100=) c.3141T>A (p.Arg1047=) c.3144T>A (p.Arg1048=) | |
19 | g.15180100C>A | CA404513007 | NOTCH3 | c.3299G>T (p.Arg1100Leu) c.3140G>T (p.Arg1047Leu) c.3143G>T (p.Arg1048Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180100C= | CA2324744236 | NOTCH3 | c.3299G= (p.Arg1100=) c.3140G= (p.Arg1047=) c.3143G= (p.Arg1048=) | |
19 | g.15180100C>G | CA404513010 | NOTCH3 | c.3299G>C (p.Arg1100Pro) c.3140G>C (p.Arg1047Pro) c.3143G>C (p.Arg1048Pro) | gnomAD v4 |
19 | g.15180100C>T | CA9263138 | NOTCH3 | c.3299G>A (p.Arg1100His) c.3140G>A (p.Arg1047His) c.3143G>A (p.Arg1048His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180101G>A | CA305769949 | NOTCH3 | c.3298C>T (p.Arg1100Cys) c.3139C>T (p.Arg1047Cys) c.3142C>T (p.Arg1048Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180101G>C | CA404513018 | NOTCH3 | c.3298C>G (p.Arg1100Gly) c.3139C>G (p.Arg1047Gly) c.3142C>G (p.Arg1048Gly) | dbSNP |
19 | g.15180101G= | CA2324744237 | NOTCH3 | c.3298C= (p.Arg1100=) c.3139C= (p.Arg1047=) c.3142C= (p.Arg1048=) | |
19 | g.15180101G>T | CA404513014 | NOTCH3 | c.3298C>A (p.Arg1100Ser) c.3139C>A (p.Arg1047Ser) c.3142C>A (p.Arg1048Ser) | |
19 | g.15180102G>A | CA505824208 | NOTCH3 | c.3297C>T (p.Cys1099=) c.3138C>T (p.Cys1046=) c.3141C>T (p.Cys1047=) | dbSNP |
19 | g.15180102G>C | CA404513025 | NOTCH3 | c.3297C>G (p.Cys1099Trp) c.3138C>G (p.Cys1046Trp) c.3141C>G (p.Cys1047Trp) | |
19 | g.15180102G>T | CA404513028 | NOTCH3 | c.3297C>A (p.Cys1099Ter) c.3138C>A (p.Cys1046Ter) c.3141C>A (p.Cys1047Ter) | |
19 | g.15180103C>A | CA404513031 | NOTCH3 | c.3296G>T (p.Cys1099Phe) c.3137G>T (p.Cys1046Phe) c.3140G>T (p.Cys1047Phe) | |
19 | g.15180103C= | CA2324744238 | NOTCH3 | c.3296G= (p.Cys1099=) c.3137G= (p.Cys1046=) c.3140G= (p.Cys1047=) | |
19 | g.15180103C>G | CA404513033 | NOTCH3 | c.3296G>C (p.Cys1099Ser) c.3137G>C (p.Cys1046Ser) c.3140G>C (p.Cys1047Ser) | |
19 | g.15180103C>T | CA404513034 | NOTCH3 | c.3296G>A (p.Cys1099Tyr) c.3137G>A (p.Cys1046Tyr) c.3140G>A (p.Cys1047Tyr) | ClinVar dbSNP gnomAD v4 |
19 | g.15180104A>C | CA404513035 | NOTCH3 | c.3295T>G (p.Cys1099Gly) c.3136T>G (p.Cys1046Gly) c.3139T>G (p.Cys1047Gly) | |
19 | g.15180104A>G | CA404513037 | NOTCH3 | c.3295T>C (p.Cys1099Arg) c.3136T>C (p.Cys1046Arg) c.3139T>C (p.Cys1047Arg) | |
19 | g.15180104A>T | CA404513042 | NOTCH3 | c.3295T>A (p.Cys1099Ser) c.3136T>A (p.Cys1046Ser) c.3139T>A (p.Cys1047Ser) | |
19 | g.15180105G>A | CA505824215 | NOTCH3 | c.3294C>T (p.Thr1098=) c.3135C>T (p.Thr1045=) c.3138C>T (p.Thr1046=) | |
19 | g.15180105G>C | CA505824211 | NOTCH3 | c.3294C>G (p.Thr1098=) c.3135C>G (p.Thr1045=) c.3138C>G (p.Thr1046=) | |
19 | g.15180105G= | CA2324744239 | NOTCH3 | c.3294C= (p.Thr1098=) c.3135C= (p.Thr1045=) c.3138C= (p.Thr1046=) | |
19 | g.15180105G>T | CA9263139 | NOTCH3 | c.3294C>A (p.Thr1098=) c.3135C>A (p.Thr1045=) c.3138C>A (p.Thr1046=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180106G>A | CA404513045 | NOTCH3 | c.3293C>T (p.Thr1098Ile) c.3134C>T (p.Thr1045Ile) c.3137C>T (p.Thr1046Ile) | gnomAD v4 |
19 | g.15180106G>C | CA404513049 | NOTCH3 | c.3293C>G (p.Thr1098Ser) c.3134C>G (p.Thr1045Ser) c.3137C>G (p.Thr1046Ser) | dbSNP |
19 | g.15180106G= | CA2324744240 | NOTCH3 | c.3293C= (p.Thr1098=) c.3134C= (p.Thr1045=) c.3137C= (p.Thr1046=) | |
19 | g.15180106G>T | CA9263140 | NOTCH3 | c.3293C>A (p.Thr1098Asn) c.3134C>A (p.Thr1045Asn) c.3137C>A (p.Thr1046Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180107T>A | CA404513053 | NOTCH3 | c.3292A>T (p.Thr1098Ser) c.3133A>T (p.Thr1045Ser) c.3136A>T (p.Thr1046Ser) | dbSNP |
19 | g.15180107T>C | CA404513057 | NOTCH3 | c.3292A>G (p.Thr1098Ala) c.3133A>G (p.Thr1045Ala) c.3136A>G (p.Thr1046Ala) | |
19 | g.15180107T>G | CA404513058 | NOTCH3 | c.3292A>C (p.Thr1098Pro) c.3133A>C (p.Thr1045Pro) c.3136A>C (p.Thr1046Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180107T= | CA2324744241 | NOTCH3 | c.3292A= (p.Thr1098=) c.3133A= (p.Thr1045=) c.3136A= (p.Thr1046=) | |
19 | g.15180108C>A | CA9263141 | NOTCH3 | c.3291G>T (p.Gly1097=) c.3132G>T (p.Gly1044=) c.3135G>T (p.Gly1045=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180108C= | CA2324744242 | NOTCH3 | c.3291G= (p.Gly1097=) c.3132G= (p.Gly1044=) c.3135G= (p.Gly1045=) | |
19 | g.15180108C>G | CA505824222 | NOTCH3 | c.3291G>C (p.Gly1097=) c.3132G>C (p.Gly1044=) c.3135G>C (p.Gly1045=) | |
19 | g.15180108C>T | CA505824223 | NOTCH3 | c.3291G>A (p.Gly1097=) c.3132G>A (p.Gly1044=) c.3135G>A (p.Gly1045=) | |
19 | g.15180113dup | CA2813714774 | NOTCH3 | c.3291dup (p.Thr1098AspfsTer12) c.3132dup (p.Thr1045AspfsTer12) c.3135dup (p.Thr1046AspfsTer12) | |
19 | g.15180113del | CA505824225 | NOTCH3 | c.3291del (p.Thr1098ProfsTer?) c.3132del (p.Thr1045ProfsTer?) c.3135del (p.Thr1046ProfsTer?) | COSMIC COSMIC |
19 | g.15180109C>A | CA404513063 | NOTCH3 | c.3290G>T (p.Gly1097Val) c.3131G>T (p.Gly1044Val) c.3134G>T (p.Gly1045Val) | |
19 | g.15180109C>G | CA404513066 | NOTCH3 | c.3290G>C (p.Gly1097Ala) c.3131G>C (p.Gly1044Ala) c.3134G>C (p.Gly1045Ala) | |
19 | g.15180109C>T | CA404513070 | NOTCH3 | c.3290G>A (p.Gly1097Glu) c.3131G>A (p.Gly1044Glu) c.3134G>A (p.Gly1045Glu) | |
19 | g.15180110C>A | CA404513073 | NOTCH3 | c.3289G>T (p.Gly1097Trp) c.3130G>T (p.Gly1044Trp) c.3133G>T (p.Gly1045Trp) | |
19 | g.15180110C= | CA2324744243 | NOTCH3 | c.3289G= (p.Gly1097=) c.3130G= (p.Gly1044=) c.3133G= (p.Gly1045=) | |
19 | g.15180110C>G | CA404513075 | NOTCH3 | c.3289G>C (p.Gly1097Arg) c.3130G>C (p.Gly1044Arg) c.3133G>C (p.Gly1045Arg) | |
19 | g.15180110C>T | CA9263142 | NOTCH3 | c.3289G>A (p.Gly1097Arg) c.3130G>A (p.Gly1044Arg) c.3133G>A (p.Gly1045Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |