5 | g.154477404_154477450del | CA2676143200 | HAND1 | c.543+20_543+66del (n.543+20_543+66del)
| gnomAD v4 |
5 | g.154477404T>A | CA2710564587 | HAND1 | c.543+62A>T (n.543+62A>T)
| dbSNP |
5 | g.154477404T>C | CA2676143215 | HAND1 | c.543+62A>G (n.543+62A>G)
| gnomAD v4 |
5 | g.154477405G>T | CA2504358596 | HAND1 | c.543+61C>A (n.543+61C>A)
| gnomAD v4 |
5 | g.154477406del | CA2676143217 | HAND1 | c.543+61del (n.543+61del)
| gnomAD v4 |
5 | g.154477406G>A | CA1083154727 | HAND1 | c.543+60C>T (n.543+60C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477406G>C | CA1592792824 | HAND1 | c.543+60C>G (n.543+60C>G)
| dbSNP gnomAD v4 |
5 | g.154477406G= | CA1592792823 | HAND1 | c.543+60C= (n.543+60C=)
| |
5 | g.154477406G>T | CA2578462595 | HAND1 | c.543+60C>A (n.543+60C>A)
| gnomAD v4 |
5 | g.154477407C>A | CA2676143222 | HAND1 | c.543+59G>T (n.543+59G>T)
| gnomAD v4 |
5 | g.154477408C>A | CA2676143224 | HAND1 | c.543+58G>T (n.543+58G>T)
| gnomAD v4 |
5 | g.154477408C>G | CA2768994035 | HAND1 | c.543+58G>C (n.543+58G>C)
| |
5 | g.154477409T>A | CA2676143226 | HAND1 | c.543+57A>T (n.543+57A>T)
| gnomAD v4 |
5 | g.154477409T>C | CA2676143227 | HAND1 | c.543+57A>G (n.543+57A>G)
| gnomAD v4 |
5 | g.154477410G>T | CA2676143228 | HAND1 | c.543+56C>A (n.543+56C>A)
| gnomAD v4 |
5 | g.154477411A>G | CA2676143229 | HAND1 | c.543+55T>C (n.543+55T>C)
| gnomAD v4 |
5 | g.154477412G>A | CA2578462596 | HAND1 | c.543+54C>T (n.543+54C>T)
| |
5 | g.154477412G>T | CA2676143230 | HAND1 | c.543+54C>A (n.543+54C>A)
| gnomAD v4 |
5 | g.154477413G= | CA1592792826 | HAND1 | c.543+53C= (n.543+53C=)
| |
5 | g.154477413G>T | CA805958398 | HAND1 | c.543+53C>A (n.543+53C>A)
| dbSNP gnomAD v4 |
5 | g.154477414C>A | CA2581518477 | HAND1 | c.543+52G>T (n.543+52G>T)
| |
5 | g.154477414C= | CA1592792827 | HAND1 | c.543+52G= (n.543+52G=)
| |
5 | g.154477414C>G | CA11949022 | HAND1 | c.543+52G>C (n.543+52G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477414C>T | CA1592792828 | HAND1 | c.543+52G>A (n.543+52G>A)
| dbSNP gnomAD v4 |
5 | g.154477415T>C | CA3526531 | HAND1 | c.543+51A>G (n.543+51A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477415T= | CA1592792831 | HAND1 | c.543+51A= (n.543+51A=)
| |
5 | g.154477416G>A | CA3526532 | HAND1 | c.543+50C>T (n.543+50C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477416G= | CA1592792834 | HAND1 | c.543+50C= (n.543+50C=)
| |
5 | g.154477416G>T | CA1083154733 | HAND1 | c.543+50C>A (n.543+50C>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477417C>T | CA2676143246 | HAND1 | c.543+49G>A (n.543+49G>A)
| gnomAD v4 |
5 | g.154477418T>C | CA563652029 | HAND1 | c.543+48A>G (n.543+48A>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477418T= | CA1592792836 | HAND1 | c.543+48A= (n.543+48A=)
| |
5 | g.154477419C>A | CA2676143249 | HAND1 | c.543+47G>T (n.543+47G>T)
| gnomAD v4 |
5 | g.154477420A>G | CA2676143250 | HAND1 | c.543+46T>C (n.543+46T>C)
| gnomAD v4 |
5 | g.154477420A>T | CA2578462597 | HAND1 | c.543+46T>A (n.543+46T>A)
| |
5 | g.154477421C>A | CA3526533 | HAND1 | c.543+45G>T (n.543+45G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477421C= | CA1592792839 | HAND1 | c.543+45G= (n.543+45G=)
| |
5 | g.154477422C>A | CA130059581 | HAND1 | c.543+44G>T (n.543+44G>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477422C= | CA1592792846 | HAND1 | c.543+44G= (n.543+44G=)
| |
5 | g.154477422C>T | CA3526534 | HAND1 | c.543+44G>A (n.543+44G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477423del | CA2676143260 | HAND1 | c.543+43del (n.543+43del)
| dbSNP gnomAD v4 |
5 | g.154477423G>A | CA2578462598 | HAND1 | c.543+43C>T (n.543+43C>T)
| gnomAD v4 |
5 | g.154477423G>T | CA2676143261 | HAND1 | c.543+43C>A (n.543+43C>A)
| gnomAD v4 |
5 | g.154477424C>A | CA2676143262 | HAND1 | c.543+42G>T (n.543+42G>T)
| gnomAD v4 |
5 | g.154477425T>C | CA2676143264 | HAND1 | c.543+41A>G (n.543+41A>G)
| gnomAD v4 |
5 | g.154477425_154477426insTCGACTA | CA2676143265 | HAND1 | c.543+40_543+41insTAGTCGA (n.543+40_543+41insTAGTCGA)
| dbSNP gnomAD v4 |
5 | g.154477427C>A | CA2676143269 | HAND1 | c.543+39G>T (n.543+39G>T)
| gnomAD v4 |
5 | g.154477427C= | CA1592792852 | HAND1 | c.543+39G= (n.543+39G=)
| |
5 | g.154477427C>T | CA563652030 | HAND1 | c.543+39G>A (n.543+39G>A)
| dbSNP gnomAD v2 |
5 | g.154477428T>C | CA2578462599 | HAND1 | c.543+38A>G (n.543+38A>G)
| |
5 | g.154477428T>G | CA2676143272 | HAND1 | c.543+38A>C (n.543+38A>C)
| gnomAD v4 |
5 | g.154477429G>A | CA2676143278 | HAND1 | c.543+37C>T (n.543+37C>T)
| gnomAD v4 |
5 | g.154477429G>T | CA2578462600 | HAND1 | c.543+37C>A (n.543+37C>A)
| gnomAD v4 |
5 | g.154477430C= | CA1592792854 | HAND1 | c.543+36G= (n.543+36G=)
| |
5 | g.154477430C>G | CA2578462601 | HAND1 | c.543+36G>C (n.543+36G>C)
| |
5 | g.154477430C>T | CA3526535 | HAND1 | c.543+36G>A (n.543+36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477431A= | CA1592792856 | HAND1 | c.543+35T= (n.543+35T=)
| |
5 | g.154477431A>C | CA1592792857 | HAND1 | c.543+35T>G (n.543+35T>G)
| dbSNP |
5 | g.154477431_154477432insG | CA2676143281 | HAND1 | c.543+34_543+35insC (n.543+34_543+35insC)
| dbSNP gnomAD v4 |
5 | g.154477432C>A | CA3526536 | HAND1 | c.543+34G>T (n.543+34G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477432C= | CA1592792858 | HAND1 | c.543+34G= (n.543+34G=)
| |
5 | g.154477432C>T | CA2569109950 | HAND1 | c.543+34G>A (n.543+34G>A)
| gnomAD v4 |
5 | g.154477432_154477433insT | CA2676143287 | HAND1 | c.543+33_543+34insA (n.543+33_543+34insA)
| dbSNP gnomAD v4 |
5 | g.154477433C>A | CA805958431 | HAND1 | c.543+33G>T (n.543+33G>T)
| dbSNP gnomAD v4 |
5 | g.154477433C= | CA1592792863 | HAND1 | c.543+33G= (n.543+33G=)
| |
5 | g.154477433C>T | CA563652031 | HAND1 | c.543+33G>A (n.543+33G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477434C>A | CA2676143291 | HAND1 | c.543+32G>T (n.543+32G>T)
| gnomAD v4 |
5 | g.154477434C= | CA1592792867 | HAND1 | c.543+32G= (n.543+32G=)
| |
5 | g.154477434C>G | CA2578462602 | HAND1 | c.543+32G>C (n.543+32G>C)
| gnomAD v4 |
5 | g.154477434C>T | CA3526537 | HAND1 | c.543+32G>A (n.543+32G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477435T>A | CA3526538 | HAND1 | c.543+31A>T (n.543+31A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477435T= | CA1592792869 | HAND1 | c.543+31A= (n.543+31A=)
| |
5 | g.154477436T>A | CA3526539 | HAND1 | c.543+30A>T (n.543+30A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477436T>G | CA805958436 | HAND1 | c.543+30A>C (n.543+30A>C)
| dbSNP |
5 | g.154477436T= | CA1592792871 | HAND1 | c.543+30A= (n.543+30A=)
| |
5 | g.154477436_154477437delinsTG | CA1592792872 | HAND1 | c.543+29_543+30delinsCA (n.543+29_543+30delinsCA)
| |
5 | g.154477437G>A | CA2676143304 | HAND1 | c.543+29C>T (n.543+29C>T)
| gnomAD v4 |
5 | g.154477437G= | CA1592792875 | HAND1 | c.543+29C= (n.543+29C=)
| |
5 | g.154477437G>T | CA3526540 | HAND1 | c.543+29C>A (n.543+29C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477438del | CA1083154748 | HAND1 | c.543+29del (n.543+29del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477438G>C | CA1592792879 | HAND1 | c.543+28C>G (n.543+28C>G)
| dbSNP |
5 | g.154477438G= | CA1592792878 | HAND1 | c.543+28C= (n.543+28C=)
| |
5 | g.154477438G>T | CA2676143308 | HAND1 | c.543+28C>A (n.543+28C>A)
| gnomAD v4 |
5 | g.154477441G>A | CA3526541 | HAND1 | c.543+25C>T (n.543+25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477441G= | CA1592792881 | HAND1 | c.543+25C= (n.543+25C=)
| |
5 | g.154477441G>T | CA2676143309 | HAND1 | c.543+25C>A (n.543+25C>A)
| gnomAD v4 |
5 | g.154477442del | CA2578462603 | HAND1 | c.543+25del (n.543+25del)
| |
5 | g.154477442G>T | CA2676143315 | HAND1 | c.543+24C>A (n.543+24C>A)
| gnomAD v4 |
5 | g.154477443A= | CA1592792883 | HAND1 | c.543+23T= (n.543+23T=)
| |
5 | g.154477443A>G | CA805958443 | HAND1 | c.543+23T>C (n.543+23T>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477444G>A | CA563652032 | HAND1 | c.543+22C>T (n.543+22C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477444G= | CA1592792885 | HAND1 | c.543+22C= (n.543+22C=)
| |
5 | g.154477444G>T | CA2676143320 | HAND1 | c.543+22C>A (n.543+22C>A)
| gnomAD v4 |
5 | g.154477445C= | CA1592792886 | HAND1 | c.543+21G= (n.543+21G=)
| |
5 | g.154477445C>G | CA1083154774 | HAND1 | c.543+21G>C (n.543+21G>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477445C>T | CA2676143327 | HAND1 | c.543+21G>A (n.543+21G>A)
| gnomAD v4 |
5 | g.154477446A= | CA1592792887 | HAND1 | c.543+20T= (n.543+20T=)
| |
5 | g.154477446A>T | CA563652033 | HAND1 | c.543+20T>A (n.543+20T>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477447T>A | CA805958448 | HAND1 | c.543+19A>T (n.543+19A>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477447T>C | CA2676143334 | HAND1 | c.543+19A>G (n.543+19A>G)
| gnomAD v4 |
5 | g.154477447T= | CA1592792889 | HAND1 | c.543+19A= (n.543+19A=)
| |
5 | g.154477448G>A | CA2676143335 | HAND1 | c.543+18C>T (n.543+18C>T)
| gnomAD v4 |
5 | g.154477448G>T | CA2676143336 | HAND1 | c.543+18C>A (n.543+18C>A)
| gnomAD v4 |
5 | g.154477449del | CA2676143340 | HAND1 | c.543+17del (n.543+17del)
| gnomAD v4 |
5 | g.154477449C>A | CA2676143342 | HAND1 | c.543+17G>T (n.543+17G>T)
| gnomAD v4 |
5 | g.154477449C= | CA1592792894 | HAND1 | c.543+17G= (n.543+17G=)
| |
5 | g.154477449C>G | CA563652034 | HAND1 | c.543+17G>C (n.543+17G>C)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477449C>T | CA563652035 | HAND1 | c.543+17G>A (n.543+17G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477450A= | CA1592792896 | HAND1 | c.543+16T= (n.543+16T=)
| |
5 | g.154477450A>C | CA563652036 | HAND1 | c.543+16T>G (n.543+16T>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477450A>T | CA2676143350 | HAND1 | c.543+16T>A (n.543+16T>A)
| gnomAD v4 |
5 | g.154477451A>T | CA2578462604 | HAND1 | c.543+15T>A (n.543+15T>A)
| |
5 | g.154477452G>A | CA3526542 | HAND1 | c.543+14C>T (n.543+14C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477452G= | CA1592792900 | HAND1 | c.543+14C= (n.543+14C=)
| |
5 | g.154477452G>T | CA2676143353 | HAND1 | c.543+14C>A (n.543+14C>A)
| gnomAD v4 |
5 | g.154477453C= | CA1592792903 | HAND1 | c.543+13G= (n.543+13G=)
| |
5 | g.154477453C>T | CA130059670 | HAND1 | c.543+13G>A (n.543+13G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477456del | CA2578462605 | HAND1 | c.543+13del (n.543+13del)
| gnomAD v3 gnomAD v4 |
5 | g.154477454C= | CA1592792908 | HAND1 | c.543+12G= (n.543+12G=)
| |
5 | g.154477454C>T | CA130059675 | HAND1 | c.543+12G>A (n.543+12G>A)
| dbSNP gnomAD v4 |
5 | g.154477455C= | CA1592792910 | HAND1 | c.543+11G= (n.543+11G=)
| |
5 | g.154477455C>G | CA563652037 | HAND1 | c.543+11G>C (n.543+11G>C)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477457A= | CA1592792912 | HAND1 | c.543+9T= (n.543+9T=)
| |
5 | g.154477457A>G | CA563652038 | HAND1 | c.543+9T>C (n.543+9T>C)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477458G>A | CA1592792917 | HAND1 | c.543+8C>T (n.543+8C>T)
| dbSNP gnomAD v4 |
5 | g.154477458G= | CA1592792915 | HAND1 | c.543+8C= (n.543+8C=)
| |
5 | g.154477458G>T | CA2676143367 | HAND1 | c.543+8C>A (n.543+8C>A)
| gnomAD v4 |
5 | g.154477459G>A | CA563652039 | HAND1 | c.543+7C>T (n.543+7C>T)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477459G= | CA1592792919 | HAND1 | c.543+7C= (n.543+7C=)
| |
5 | g.154477459G>T | CA2578462606 | HAND1 | c.543+7C>A (n.543+7C>A)
| gnomAD v4 |
5 | g.154477460A>T | CA645549418 | HAND1 | c.543+6T>A (n.543+6T>A)
| COSMIC |
5 | g.154477462T>C | CA805958460 | HAND1 | c.543+4A>G (n.543+4A>G)
| dbSNP |
5 | g.154477462T= | CA1592792922 | HAND1 | c.543+4A= (n.543+4A=)
| |
5 | g.154477463C= | CA1592792926 | HAND1 | c.543+3G= (n.543+3G=)
| |
5 | g.154477463C>T | CA563652040 | HAND1 | c.543+3G>A (n.543+3G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477464A>C | CA361921375 | HAND1 | c.543+2T>G (n.543+2T>G)
| |
5 | g.154477464A>G | CA361921373 | HAND1 | c.543+2T>C (n.543+2T>C)
| |
5 | g.154477464A>T | CA361921370 | HAND1 | c.543+2T>A (n.543+2T>A)
| |
5 | g.154477465C>A | CA361921377 | HAND1 | c.543+1G>T (n.543+1G>T)
| gnomAD v4 |
5 | g.154477465C>G | CA361921378 | HAND1 | c.543+1G>C (n.543+1G>C)
| |
5 | g.154477465C>T | CA361921380 | HAND1 | c.543+1G>A (n.543+1G>A)
| |
5 | g.154477466C>A | CA447235221 | HAND1 | c.543G>T (p.Leu181=)
| |
5 | g.154477466C>G | CA447235225 | HAND1 | c.543G>C (p.Leu181=)
| |
5 | g.154477466C>T | CA447235223 | HAND1 | c.543G>A (p.Leu181=)
| |
5 | g.154477467A>C | CA361921383 | HAND1 | c.542T>G (p.Leu181Arg)
| |
5 | g.154477467A>G | CA361921384 | HAND1 | c.542T>C (p.Leu181Pro)
| gnomAD v4 |
5 | g.154477467A>T | CA361921385 | HAND1 | c.542T>A (p.Leu181Gln)
| |
5 | g.154477468G>A | CA447235230 | HAND1 | c.541C>T (p.Leu181=)
| gnomAD v4 |
5 | g.154477468G>C | CA361921386 | HAND1 | c.541C>G (p.Leu181Val)
| gnomAD v4 |
5 | g.154477468G>T | CA361921387 | HAND1 | c.541C>A (p.Leu181Met)
| |
5 | g.154477469C>A | CA361921389 | HAND1 | c.540G>T (p.Glu180Asp)
| |
5 | g.154477469C>G | CA361921391 | HAND1 | c.540G>C (p.Glu180Asp)
| |
5 | g.154477469C>T | CA447235236 | HAND1 | c.540G>A (p.Glu180=)
| |
5 | g.154477470T>A | CA361921394 | HAND1 | c.539A>T (p.Glu180Val)
| |
5 | g.154477470T>C | CA361921399 | HAND1 | c.539A>G (p.Glu180Gly)
| |
5 | g.154477470T>G | CA361921397 | HAND1 | c.539A>C (p.Glu180Ala)
| |
5 | g.154477471C>A | CA361921403 | HAND1 | c.538G>T (p.Glu180Ter)
| |
5 | g.154477471C>G | CA361921406 | HAND1 | c.538G>C (p.Glu180Gln)
| |
5 | g.154477471C>T | CA361921414 | HAND1 | c.538G>A (p.Glu180Lys)
| |
5 | g.154477472C>A | CA361921415 | HAND1 | c.537G>T (p.Arg179Ser)
| gnomAD v4 |
5 | g.154477472C>G | CA361921421 | HAND1 | c.537G>C (p.Arg179Ser)
| |
5 | g.154477472C>T | CA447235241 | HAND1 | c.537G>A (p.Arg179=)
| COSMIC |
5 | g.154477473C>A | CA361921424 | HAND1 | c.536G>T (p.Arg179Met)
| |
5 | g.154477473C>G | CA361921427 | HAND1 | c.536G>C (p.Arg179Thr)
| |
5 | g.154477473C>T | CA361921430 | HAND1 | c.536G>A (p.Arg179Lys)
| gnomAD v4 |
5 | g.154477474T>A | CA361921434 | HAND1 | c.535A>T (p.Arg179Trp)
| ClinVar |
5 | g.154477474T>C | CA361921433 | HAND1 | c.535A>G (p.Arg179Gly)
| |
5 | g.154477474T>G | CA447235245 | HAND1 | c.535A>C (p.Arg179=)
| |
5 | g.154477477del | CA2676143384 | HAND1 | c.535del (p.Arg179GlyfsTer?)
| gnomAD v4 |
5 | g.154477475T>A | CA361921435 | HAND1 | c.534A>T (p.Lys178Asn)
| |
5 | g.154477475T>C | CA447235247 | HAND1 | c.534A>G (p.Lys178=)
| |
5 | g.154477475T>G | CA361921436 | HAND1 | c.534A>C (p.Lys178Asn)
| |
5 | g.154477476T>A | CA361921438 | HAND1 | c.533A>T (p.Lys178Ile)
| |
5 | g.154477476T>C | CA361921439 | HAND1 | c.533A>G (p.Lys178Arg)
| dbSNP |
5 | g.154477476T>G | CA361921441 | HAND1 | c.533A>C (p.Lys178Thr)
| |
5 | g.154477476T= | CA1592792929 | HAND1 | c.533A= (p.Lys178=)
| |
5 | g.154477477T>A | CA361921443 | HAND1 | c.532A>T (p.Lys178Ter)
| |
5 | g.154477477T>C | CA361921444 | HAND1 | c.532A>G (p.Lys178Glu)
| |
5 | g.154477477T>G | CA361921445 | HAND1 | c.532A>C (p.Lys178Gln)
| |
5 | g.154477478C>A | CA447235252 | HAND1 | c.531G>T (p.Arg177=)
| |
5 | g.154477478C= | CA1592792935 | HAND1 | c.531G= (p.Arg177=)
| |
5 | g.154477478C>G | CA3526543 | HAND1 | c.531G>C (p.Arg177=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477478C>T | CA447235253 | HAND1 | c.531G>A (p.Arg177=)
| gnomAD v4 |
5 | g.154477479C>A | CA130059683 | HAND1 | c.530G>T (p.Arg177Leu)
| dbSNP |
5 | g.154477479C= | CA1592792940 | HAND1 | c.530G= (p.Arg177=)
| |
5 | g.154477479C>G | CA361921449 | HAND1 | c.530G>C (p.Arg177Pro)
| |
5 | g.154477479C>T | CA3526544 | HAND1 | c.530G>A (p.Arg177Gln)
| dbSNP ExAC |
5 | g.154477480G>A | CA361921456 | HAND1 | c.529C>T (p.Arg177Trp)
| dbSNP gnomAD v2 |
5 | g.154477480G>C | CA361921465 | HAND1 | c.529C>G (p.Arg177Gly)
| |
5 | g.154477480G= | CA1592792945 | HAND1 | c.529C= (p.Arg177=)
| |
5 | g.154477480G>T | CA3526545 | HAND1 | c.529C>A (p.Arg177=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477481C>A | CA361921467 | HAND1 | c.528G>T (p.Lys176Asn)
| |
5 | g.154477481C>G | CA361921474 | HAND1 | c.528G>C (p.Lys176Asn)
| |
5 | g.154477481C>T | CA447235259 | HAND1 | c.528G>A (p.Lys176=)
| |
5 | g.154477482T>A | CA361921477 | HAND1 | c.527A>T (p.Lys176Met)
| |
5 | g.154477482T>C | CA361921478 | HAND1 | c.527A>G (p.Lys176Arg)
| |
5 | g.154477482T>G | CA361921482 | HAND1 | c.527A>C (p.Lys176Thr)
| |
5 | g.154477483T>A | CA361921483 | HAND1 | c.526A>T (p.Lys176Ter)
| |
5 | g.154477483T>C | CA361921484 | HAND1 | c.526A>G (p.Lys176Glu)
| COSMIC |
5 | g.154477483T>G | CA361921485 | HAND1 | c.526A>C (p.Lys176Gln)
| |
5 | g.154477484G>A | CA447235261 | HAND1 | c.525C>T (p.Ser175=)
| |
5 | g.154477484G>C | CA361921493 | HAND1 | c.525C>G (p.Ser175Arg)
| |
5 | g.154477484G>T | CA361921490 | HAND1 | c.525C>A (p.Ser175Arg)
| |
5 | g.154477485C>A | CA361921497 | HAND1 | c.524G>T (p.Ser175Ile)
| |
5 | g.154477485C= | CA1592792947 | HAND1 | c.524G= (p.Ser175=)
| |
5 | g.154477485C>G | CA361921507 | HAND1 | c.524G>C (p.Ser175Thr)
| |
5 | g.154477485C>T | CA361921513 | HAND1 | c.524G>A (p.Ser175Asn)
| dbSNP COSMIC |
5 | g.154477486T>A | CA361921515 | HAND1 | c.523A>T (p.Ser175Cys)
| |
5 | g.154477486T>C | CA361921516 | HAND1 | c.523A>G (p.Ser175Gly)
| gnomAD v4 |
5 | g.154477486T>G | CA361921517 | HAND1 | c.523A>C (p.Ser175Arg)
| |
5 | g.154477487C>A | CA361921518 | HAND1 | c.522G>T (p.Glu174Asp)
| |
5 | g.154477487C>G | CA361921519 | HAND1 | c.522G>C (p.Glu174Asp)
| |
5 | g.154477487C>T | CA447235263 | HAND1 | c.522G>A (p.Glu174=)
| |
5 | g.154477488T>A | CA361921520 | HAND1 | c.521A>T (p.Glu174Val)
| |
5 | g.154477488T>C | CA3526546 | HAND1 | c.521A>G (p.Glu174Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477488T>G | CA361921522 | HAND1 | c.521A>C (p.Glu174Ala)
| |
5 | g.154477488T= | CA1592792950 | HAND1 | c.521A= (p.Glu174=)
| |
5 | g.154477489C>A | CA361921524 | HAND1 | c.520G>T (p.Glu174Ter)
| |
5 | g.154477489C>G | CA361921526 | HAND1 | c.520G>C (p.Glu174Gln)
| |
5 | g.154477489C>T | CA361921525 | HAND1 | c.520G>A (p.Glu174Lys)
| |
5 | g.154477490A= | CA1592792954 | HAND1 | c.519T= (p.Arg173=)
| |
5 | g.154477490A>C | CA447421469 | HAND1 | c.519T>G (p.Arg173=)
| dbSNP |
5 | g.154477490A>G | CA447421471 | HAND1 | c.519T>C (p.Arg173=)
| |
5 | g.154477490A>T | CA447421474 | HAND1 | c.519T>A (p.Arg173=)
| |
5 | g.154477491C>A | CA3526547 | HAND1 | c.518G>T (p.Arg173Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477491C= | CA1592792957 | HAND1 | c.518G= (p.Arg173=)
| |
5 | g.154477491C>G | CA361921527 | HAND1 | c.518G>C (p.Arg173Pro)
| |
5 | g.154477491C>T | CA130059698 | HAND1 | c.518G>A (p.Arg173His)
| dbSNP |
5 | g.154477492G>A | CA361921530 | HAND1 | c.517C>T (p.Arg173Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.154477492G>C | CA361921533 | HAND1 | c.517C>G (p.Arg173Gly)
| gnomAD v4 |
5 | g.154477492G= | CA1592792961 | HAND1 | c.517C= (p.Arg173=)
| |
5 | g.154477492G>T | CA361921534 | HAND1 | c.517C>A (p.Arg173Ser)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477493G>A | CA447421483 | HAND1 | c.516C>T (p.Gly172=)
| |
5 | g.154477493G>C | CA447421485 | HAND1 | c.516C>G (p.Gly172=)
| |
5 | g.154477493G>T | CA447421486 | HAND1 | c.516C>A (p.Gly172=)
| ClinVar gnomAD v4 |
5 | g.154477494C>A | CA361921535 | HAND1 | c.515G>T (p.Gly172Val)
| |
5 | g.154477494C>G | CA361921536 | HAND1 | c.515G>C (p.Gly172Ala)
| |
5 | g.154477494C>T | CA361921537 | HAND1 | c.515G>A (p.Gly172Asp)
| |
5 | g.154477495C>A | CA361921540 | HAND1 | c.514G>T (p.Gly172Cys)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.154477495C= | CA1592792966 | HAND1 | c.514G= (p.Gly172=)
| |
5 | g.154477495C>G | CA361921541 | HAND1 | c.514G>C (p.Gly172Arg)
| |
5 | g.154477495C>T | CA361921538 | HAND1 | c.514G>A (p.Gly172Ser)
| |
5 | g.154477496G>A | CA447421496 | HAND1 | c.513C>T (p.Gly171=)
| |
5 | g.154477496G>C | CA447421497 | HAND1 | c.513C>G (p.Gly171=)
| |
5 | g.154477496G= | CA1592792969 | HAND1 | c.513C= (p.Gly171=)
| |
5 | g.154477496G>T | CA447421498 | HAND1 | c.513C>A (p.Gly171=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.154477497C>A | CA361921544 | HAND1 | c.512G>T (p.Gly171Val)
| |
5 | g.154477497C= | CA1592792972 | HAND1 | c.512G= (p.Gly171=)
| |
5 | g.154477497C>G | CA361921542 | HAND1 | c.512G>C (p.Gly171Ala)
| |
5 | g.154477497C>T | CA3526548 | HAND1 | c.512G>A (p.Gly171Asp)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.154477498C>A | CA361921568 | HAND1 | c.511G>T (p.Gly171Cys)
| |
5 | g.154477498C>G | CA361921570 | HAND1 | c.511G>C (p.Gly171Arg)
| |
5 | g.154477498C>T | CA361921574 | HAND1 | c.511G>A (p.Gly171Ser)
| gnomAD v4 |
5 | g.154477499A= | CA1592792974 | HAND1 | c.510T= (p.Asp170=)
| |
5 | g.154477499A>C | CA361921577 | HAND1 | c.510T>G (p.Asp170Glu)
| |
5 | g.154477499A>G | CA447421504 | HAND1 | c.510T>C (p.Asp170=)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.154477499A>T | CA361921579 | HAND1 | c.510T>A (p.Asp170Glu)
| |
5 | g.154477500T>A | CA361921587 | HAND1 | c.509A>T (p.Asp170Val)
| |
5 | g.154477500T>C | CA361921590 | HAND1 | c.509A>G (p.Asp170Gly)
| gnomAD v4 |
5 | g.154477500T>G | CA361921591 | HAND1 | c.509A>C (p.Asp170Ala)
| |
5 | g.154477501C>A | CA361921602 | HAND1 | c.508G>T (p.Asp170Tyr)
| |
5 | g.154477501C>G | CA361921597 | HAND1 | c.508G>C (p.Asp170His)
| |
5 | g.154477501C>T | CA361921594 | HAND1 | c.508G>A (p.Asp170Asn)
| gnomAD v4 |
5 | g.154477502C>A | CA447421512 | HAND1 | c.507G>T (p.Ala169=)
| gnomAD v4 |
5 | g.154477502C= | CA1592792978 | HAND1 | c.507G= (p.Ala169=)
| |
5 | g.154477502C>G | CA447421515 | HAND1 | c.507G>C (p.Ala169=)
| |
5 | g.154477502C>T | CA3526549 | HAND1 | c.507G>A (p.Ala169=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.154477503G>A | CA361921605 | HAND1 | c.506C>T (p.Ala169Val)
| dbSNP gnomAD v4 |
5 | g.154477503G>C | CA361921608 | HAND1 | c.506C>G (p.Ala169Gly)
| |
5 | g.154477503G>T | CA361921610 | HAND1 | c.506C>A (p.Ala169Glu)
| |
5 | g.154477504C>A | CA361921613 | HAND1 | c.505G>T (p.Ala169Ser)
| |
5 | g.154477504C>G | CA361921614 | HAND1 | c.505G>C (p.Ala169Pro)
| |
5 | g.154477504C>T | CA361921615 | HAND1 | c.505G>A (p.Ala169Thr)
| |